The follicle stimulating hormone beta-subunit （FSHβ） gene plays an important role in piglets. Marker-assisted selection （MAS） in conjunction with traditional selection methods is most effective for improving the ...The follicle stimulating hormone beta-subunit （FSHβ） gene plays an important role in piglets. Marker-assisted selection （MAS） in conjunction with traditional selection methods is most effective for improving the piglets breeding traits. To find the new SNPs, the polymorphism of it in six pig breeds （Min, Landrace, Yorkshine, Duroc, wild boar, and wild boar × Landrace） was analyzed by using PCR-SSCP and was further compared with each other. Polymorphism was found and the sequencing results showed that there was one silent mutation on exon2 （C48T） and two mutations on exon3 （T422C and A514G）. Genotype distribution of FSHβ in Min and wild boar on exon3 was in accordance with Hardy-Weinberg Law.展开更多
Background and objective:Lung cancer is one of the malignant tumors.Gene mutations associated with cellular immune function and regulating the activation and proliferation of immune cells.Several publications have exp...Background and objective:Lung cancer is one of the malignant tumors.Gene mutations associated with cellular immune function and regulating the activation and proliferation of immune cells.Several publications have explored the relationship between cytotoxic T lymphocyte antigen-4(CTLA-4)+49 adenine(A)/guanine(G)polymorphism and susceptibility of lung cancer,but the results remain controversial.Thus,we performed this meta-analysis to derive a more comprehensive estimation of the relationship.Methods:All articles addressed lung cancer and polymorphisms of CTLA-4 were searched from the Pub Med,EMBASE databases published up to June 29,2019.Odds ratios(ORs)with 95%confidence intervals(CIs)were used to assess the strength of association.Publication bias of relevant studies was examined via Begg’s test and funnel plots.Results:The meta-analysis included 8 case-control studies covering 4,430 lung cancer patients and 5,198 healthy controls from September 2008 to April 2020.The overall eligible data indicated that CTLA-4+49 A/G polymorphisms did not correlate with the elevated lung cancer risk in all genetic comparison models(dominant model:OR=1.037,95%CI:0.925-1.161;recessive model:OR=0.968,95%CI:0.888-1.055;allele model:OR=0.992,95%CI:0.933-1.054;homozygous model:OR=0.980,95%CI:0.857-1.121;heterozygous model:OR=1.023,95%CI:0.906-1.154).In further stratified analyses,CTLA-4+49 A/G polymorphism was found to be significantly associated with susceptibility to NSCLC in these models(dominant model:OR=1.404,95%CI:1.074-1.836;allele model:OR=1.273,95%CI:1.034-1.565;homozygous model:OR=1.553,95%CI:1.044-2.310;heterozygous model:OR=1.308,95%CI:1.062-1.611).Conclusion:CTLA-4+49 A/G polymorphism were not associated with the risk of lung cancer but might be a risk factor only in NSCLC.展开更多
Reproduction trait plays an important role in pig production. Identification of molecular markers that are linked to litter size may contribute to the genetic development of porcine reproduction traits. In this study,...Reproduction trait plays an important role in pig production. Identification of molecular markers that are linked to litter size may contribute to the genetic development of porcine reproduction traits. In this study, porcine ring finger protein 4 （pRNF4） and Matrix metalloproteinase 9 （pMMP-9） were selected as candidate genes on the basis of their physiological roles in reproduction. Two single-nucleotide polymorphisms （416C〉T in pRNF4 and - 1257G〉A in pMMP-9） that could be detected by PCR restriction fragment length polymorphism （PCR-RFLP） were discovered and tested for statistical associations with litter size traits in three populations. For 416C〉T, TT genotype was associated with a significantly higher （p〈0.05） number of live births than those recorded for CC sows and the additive effect was significant （p〈0.05） in Qingping and Min Pigs populations in later parities. For -1257G〉A, inconsistent results were found in three populations. The results suggested that T allele in pRNF4 gene might confer a high prolificacy in breeding and further studies were needed to confLrm the results.展开更多
Based on chicken＇ consensus map issued in 2000, 17 microsatellites near 4 candidate genes such as IGF2, OBR, GDF8 and APOA 1 in 4 chromosomes （chromosome 5, 7, 8 and 24） were chosen for polymorphism analysis and co...Based on chicken＇ consensus map issued in 2000, 17 microsatellites near 4 candidate genes such as IGF2, OBR, GDF8 and APOA 1 in 4 chromosomes （chromosome 5, 7, 8 and 24） were chosen for polymorphism analysis and construction of linkage map. Combining the technique of PCR and the fluorescent semi-automated detection, genome scanning was performed for 440 chickens, which was derived from China Agricultural University chicken resource families within three generations. The individuals of this resource families were genotyped. The results showed that the number of alleles ranged from 4 to 14; heterozygosity （H） of markers was between 0.3116 and 0.9148. Polymorphic information content （PIC） varied from 0.2672 to 0.8679. Microsatellites along with above-mentioned 4 candidate genes doing as general markers were used to construct linkage map. The spans of 4 linkage maps constructed in the part region of chromosome 5, 7, 8 and 24 were 263.5, 79.9, 206.2 and 104.2 cM, respectively. The order of markers was consistent with that of counterpart of reported consensus map. However, The spans of linkage map were larger than that of consensus map. The constructed linkage maps laid the foundation for mapping quantitative trait loci （QTL） responsible for economically important traits in chicken.展开更多
Objective Tacrolimus is an immunosuppressive drug with narrow therapeutic range and wide interindividual variation in its pharmacokinetics.Tacrolimus is a substrate of cytochrome P450(CYP)3A5.The aim of this study was...Objective Tacrolimus is an immunosuppressive drug with narrow therapeutic range and wide interindividual variation in its pharmacokinetics.Tacrolimus is a substrate of cytochrome P450(CYP)3A5.The aim of this study was to evaluate whether the A6986G polymorphism is associated with tacrolimus concentration/dose ratio.Methods Fifty-two Chinese renal transplant patients were enrolled in this study.Their body weight,dosage and concentration of tacrolimus were observed.CYP3A5 genotype was determined by polymerase chain reaction followed by restriction fragment length polymorphism analysis.Results A significant association was found between tacrolimus levels per dose/kg/d and CYP3A5 gene A6986G polymorphism(P<0.001).The CYP3A5*3*3 patients have a significantly higher tacrolimus level/dose than CYP3A5*1*1 and CYP3A5*1*3.Conclusions CYP3A5 gene A6986G polymorphism is associated with tacrolimus pharmacokinetics and dose requirements.Pharmacogenetic methods could be employed prospectively to help the dose selection and to individualize immunosuppressive therapy according to the result.展开更多
The cytochrome P450 2El （ CYP2E1 ） and aldehyde dehydrogenase 2 （ALDH2） have been demonstrated that they were related to the development of hepatocellular carcinoma （HCC）. However, the associations have not been...The cytochrome P450 2El （ CYP2E1 ） and aldehyde dehydrogenase 2 （ALDH2） have been demonstrated that they were related to the development of hepatocellular carcinoma （HCC）. However, the associations have not been explained conclusively, and the combined analysis with the CYP2E1 Rsa I polymorphism and the ALDH2 pol- ymorphism have not been clarifed. In this study, we performed a meta-analysis to interpret the association between CYP2E1 and ALDH2 polymorphisms and HCC risk. Published literatures were retrieved from PubMed and Embase up to July, 2014. The pooled odds ratio （OR） with 95% confidence interval （CI） was calculated by using fixed- effects or random-effects model. A total of twelve case-controlled studies with 1 077 cancer cases and 2 000 controls concerning the CYP2E1 polymorphism were selected for this meta-analysis. The results indicated that there was no significantly associations between CYP2E1 polymorphism and risk of HCC （cl/c2 vs el/el ： OR - 1.11, 95% CI： 0.88-=1.39, P-0.38; c2/c2 vs el/el. OR -0.90, 95% CI. 0.54-=1.50, P-0.69; cl/c2 ＋ c2/c2 vs el/ el ： OR - 1.07, 95% CI： 0.89 -~ 1.30, P -0.47）. Further analysis of subgroup based on the ethnicity also showed no statistically significant associated with risk of HCC between the East Asians and the Europeans. In addi- tion, eight studies including 911 cases and 1 903 controls were included in this meta-analysis about the association between ALDH2 polymorphism and HCC risk. Results Based on our study also showed no significant association between ALDH2 polymorphism and the risk of HCC risk （ ＊ 1/＊ 2 vs ＊ 1/＊ 1： OR -0. 92, 95% CI： 0.65 -＊ 1.32, P-0.66; ,2/,2 vs ＊ 1/＊ 1. OR -0.82, 95% CI. 0.57-=1.18, P-0.28, ＊ 1/,2 ＋ ,2/,2 vs ＊ 1/＊ 1 ： OR -0.90, 95% CI. 0. 63 -- 1.29, P -0. 57）. The present meta-analysis indicated that there was no sig- nificant association between CYP2E1 polymorphism or ALDH2 polymorphism and HCC risk in the East Asians and the Europeans.展开更多
OBJECTIVE To evaluate the association between DNA(cytosine-5)-methyltransferase 3 alpha(DNMT3A)genetic polymorphisms and the disease prognosis of R882 mutation negative acute myeloid leukemia(AML)patients.METHODS DNMT...OBJECTIVE To evaluate the association between DNA(cytosine-5)-methyltransferase 3 alpha(DNMT3A)genetic polymorphisms and the disease prognosis of R882 mutation negative acute myeloid leukemia(AML)patients.METHODS DNMT3A 11 SNPs(rs11695471,rs2289195,rs734693,rs2276598,rs1465825,rs7590760,rs13401241,rs7581217,rs749131,rs41284843 and rs7560488)were genotyped using a MassA RRAY platform or Sanger sequencing method in 317 diagnostic non-FABM3 AML patients without R882 mutation from southern China.AML patients underwent combined chemotherapy with cytarabine and anthracyclines.Overall survival(OS)and Disease-free survival(DFS)as major end points were defined.The prognostic(median OS and DFS)evaluations were performed by Kaplan-Meier curve and Cox′s proportional hazard model.RESULTS We found that the rs2289195 G>A SNP could act as a poor prognostic predictor independently(HR=0.442,P=0.035 for OS;HR=0.431,P=0.031 for DFS),while the rs1465825 T>C SNP and rs7590760 G>C SNP appeared to predict independently poor prognosis for both OS(HR=1.453,P=0.037 for rs1465825;HR=1.584,P=0.063 for rs7590760)and DFS(HR=1.459,P=0.057 for rs1465825;HR=1.965,P=0.017for rs7590760).However,no significant associations between other DNMT3A polymorphisms and prognosis(OS in conjunction with DFS)were observed.CONCLUSION DNMT3A polymorphisms may be potential predictive markers for AML prognosis in R882 mutation negative patients,which might improve prognostic stratification of AML.展开更多
OBJECTIVE SNPs in lnc RNAs may alter the expression or secondary structure of lnc RNAs and then impact their functions.Whether lnc RNA SNPs affect the prognosis of acute myeloid leukemia(AML)remains unknown.To search ...OBJECTIVE SNPs in lnc RNAs may alter the expression or secondary structure of lnc RNAs and then impact their functions.Whether lnc RNA SNPs affect the prognosis of acute myeloid leukemia(AML)remains unknown.To search the association between lnc RNA SNPs and AML outcomes,thirty tag SNPs in GAS5,H19,MALAT1,WT1-as and SRA were genotyped in313 AML patients.METHODS Survival analysis was performed in both AML patients recruited presently and GEO samples.The expression of GAS5 and TP63 was analyzed by real-time quantitative PCR.Dual-luciferase reporter gene assay was used to confirm the interactions between GAS5 rs55829688 and TP63.RESULTS Survival analysis indicated that rs55829688(T>C),located in GAS5 promoter,was significantly associated with the prognosis of AML.The average overall survival(OS)for patients with the rs55829688 CC genotype was significantly shorter than those carrying the rs55829688 T allele(P=0.018).Patients with rs55829688 CC genotype showed higher GAS5 expression in PBMCs than carriers of rs55829688T allele(P=0.025).Rs55829688 CC homozygotes also harbored a longer platelets recovery than those with rs55829688 T allele(P=0.040).In vitro study showed that GAS5 promoter harboring the rs55829688 C al ele showed marginal y increased reporter gene activity(P=0.054),and the promoter activity was increased by TP63 in a dose-dependent manner(P=0.001).Moreover,GAS5 expression was associated with AML OS in the GEO GSE12417 dataset,and GAS5 higher expression predict shorter OS(P=0.011).CONCLUSION Rs55829688 polymorphism could increase GAS5 expression by interacting with TP63 and was associated with worse OS in Chinese AML patients.展开更多
Three breeds of sows were observed to investigate the relationship between Single Nucleotide Polymorphisms（SNPs） in Mu Opioid Receptor（MOR）and stereotypic behaviour,such as,sham-chewing,bar biting and standing sti...Three breeds of sows were observed to investigate the relationship between Single Nucleotide Polymorphisms（SNPs） in Mu Opioid Receptor（MOR）and stereotypic behaviour,such as,sham-chewing,bar biting and standing still in order to better understand the mechanism of stereotypic development of the animals in restrained conditions.MOR exon 2 partial sequences were amplified to analyze single nucleotide polymorphisms by PCR-SSCP.One SNP,a silence mutant was found.A significant difference （P〈0.01）was found in the frequency of genotypes in these 3 breeds where only the BB genotype,which was identical to that published in GenBank,was found in the Duroc breed,while no AA genotype was found in Landrace,3 genotypes AA,BB and AB were found in Yorkshire.The result also indicated that the individuals with AA and AB genotypes tended to be more active in sham-chewing than those with the BB genotype（P〈0.05）.The overall results of this study suggested that sham-chewing of sows may be subjected to both genetic control and environmental conditions,but activity level was more likely to be affected by their environment.We can putatively draw the conclusion that MOR gene has effect on the sham-chewing behavioral traits of sow.展开更多
In order to further study functions of the porcine myostatin gene, we analyzed the polymorphisms of porcine myostatin gene in promoter region among different breeds including Yorkshire, Landrace, Duroc, Junmu, Min pig...In order to further study functions of the porcine myostatin gene, we analyzed the polymorphisms of porcine myostatin gene in promoter region among different breeds including Yorkshire, Landrace, Duroc, Junmu, Min pig and Sanjiang white pig by PCR-RFLPs. The allele T dominated in the imported lean-type pig breeds such as Yorkshire, Landrace and Duroc. No allele A was detected in Junmu and Sanjiang white pig, and the frequencies of three genotypes were about equal in Min pig. The result using X2 analysis showed that the distribution of three genotypes was related to pig breeds.展开更多
Polymorphisms of porcine ob exon 1 and exon 2 among different breeds including Landrace, Duroc, Min pig, Yorkshire pig, double-muscled Yorkshire, Sanjiang pig, wild boar and cross bred pig were analyzed by PCR-SSCP in...Polymorphisms of porcine ob exon 1 and exon 2 among different breeds including Landrace, Duroc, Min pig, Yorkshire pig, double-muscled Yorkshire, Sanjiang pig, wild boar and cross bred pig were analyzed by PCR-SSCP in the current study. Three pairs of primers according to the ob cDNA sequence obtained from GenBank database were designed to amplify the first two exons, which were then genotyped by SSCP. The T to C transversion was found in exon 2, which resulted in 3 genotypes named AA, AB and BB, respectively in these different porcine breeds. There was only genotype of BB in the Min pig, while no allele B was detected in double-muscled Yorkshire, and the 3 genotypes all existed in other breeds. There was significant difference on the genotype frequencies in various breeds. There was a trend that the frequency of allele A was positively associated with muscle ratio distribution on the one hand, and on the other hand, it was linked to the selected direction. So the allele A could be used as a selective marker of high muscle ratio in pig breeding.展开更多
While we studied pharmacokinetics of SM-12502 which was under development as an anti-PAF agent, we found three subjects showing a slow metabolic phenotype in its pharmacokinetics. Analyzing the genes for CYP2A6 from t...While we studied pharmacokinetics of SM-12502 which was under development as an anti-PAF agent, we found three subjects showing a slow metabolic phenotype in its pharmacokinetics. Analyzing the genes for CYP2A6 from the three subjects, we discovered that the three subjects possessed the whole CYP2A6 gene deletion (CYP2A6*4C), a novel genetic polymorphism of the CYP2A6 gene. Genetically engineered Salmonella YG7108 cells expressing human CYP2A6 or CYP2E1 together with the NADPH-CYP reductase were established in our laboratory to compare the mutagen-producing capacity of these enzymes for various N-nitrosamines. We found that CYP2E1 was responsible for the metabolic activation of N-nitrosamines with relatively short alkyl chains, whereas CYP2A6 was involved in the metabolic activation of N-nitrosamines possessing relatively bulky alkyl chains such as a tobacco-specific nitrosamine, NNK, which has been known to cause lung tumor in rodents. Thus, to examine a hypothesis that individuals possessing the CYP2A6*4C have the reduced risk of lung cancer due to the lack of the capacity of the metabolic activation of certain carcinogens in tobacco smoke, a case-control study was performed.展开更多
Objective:To investigate the association between the polymorphism of HLA-A,HLA-B genes and pre-eclampsia. Methods:HLA-A,HLA-B genotyping was performed by polymerase chain reaction sequence-specific primer (PCR-SSP) in...Objective:To investigate the association between the polymorphism of HLA-A,HLA-B genes and pre-eclampsia. Methods:HLA-A,HLA-B genotyping was performed by polymerase chain reaction sequence-specific primer (PCR-SSP) in 119 preeclampsia patients,117 normal pregnant women and their neonates. Results:The study showed that 16 HLA-A and 39 HLA-B alleles were obtained in pre-eclamptic patients and normal pregnant women. 15 HLA-A and 37 HLA-B alleles were obtained in their neonates. No significant difference was found in maternal or neonatal HLA-A,HLA-B alleles between pre-eclampsia group and control group (P_(c)>0.05). The frequencies of HLA-A11,HLA-A24,HLA-B13,HLA-B14,HLA-B15,HLA-B52 maternal/fetus genetic assoications were significantly diffe-rent between pre-eclampsia group and control group (P<0.05). Conclusion:Some HLA-A,HLA-B maternal/fetus special bindings may be associated with the susceptibility or protective of pre-eclampsia.展开更多
Objective To evaluate the association of GGN repeat polymorphism of androgen receptor(AR)with ovarian reserve and ovarian response in controlled ovarian stimulation(COS).Methods This genetic association study was cond...Objective To evaluate the association of GGN repeat polymorphism of androgen receptor(AR)with ovarian reserve and ovarian response in controlled ovarian stimulation(COS).Methods This genetic association study was conducted among a total of 361 women aged≤40 years with basal FSH≤12 U/L undergoing the GnRH-agonist long protocol for COS in a university affiliated IVF center.GGN repeat in the AR gene was analyzed with Sanger sequencing.The primary endpoint was the number of antral follicle counts(AFCs),and the secondary endpoints were stimulation days,total dose of gonadotropin(Gn)used,total number of retrieved oocytes,ovarian sensitivity index,and follicular output rate.Results The GGN repeat in exon 1 of the AR gene ranged from 13 to 24,and the median repeat length was 22.Based on the genotypes(S for GGN repeats<22,L for GGN repeats≥22),the patients were divided into 3 groups:SS,SL,and LL.Generalized regression analysis indicated that the number of AFCs in group SS was significantly lower than those in group SL(adjusted β=1.8,95%CI:0.2-3.4,P=0.024)and group LL(adjusted β=1.5,95%CI:0.2-2.7,P=0.021).No significant difference was observed in the number of AFCs between group SL and group LL(P>0.05).Generalized regression analysis indicated no significant differences in ovarian stimulation parameters among the 3 groups,either before or after adjusting for confounding factors(P>0.05).Conclusion GGN repeat length on the AR gene is associated with AFC but not with ovarian response in Chinese women,indicating that AR gene polymorphisms may affect ovarian reserve.展开更多
Objective The detection of RNA single nucleotide polymorphism(SNP)is of great importance due to their association with protein expression related to various diseases and drug responses.At present,splintR ligase-assist...Objective The detection of RNA single nucleotide polymorphism(SNP)is of great importance due to their association with protein expression related to various diseases and drug responses.At present,splintR ligase-assisted methods are important approaches for RNA direct detection,but its specificity will be limited when the fidelity of ligases is not ideal.The aim of this study was to create a method to improve the specificity of splintR ligase for RNA detection.Methods In this study,a dualcompetitive-padlock-probe(DCPLP)assay without the need for additional enzymes or reactions is proposed to improve specificity of splintR ligase ligation.To verify the method,we employed dual competitive padlock probe-mediated rolling circle amplification(DCPLP-RCA)to genotype the CYP2C9 gene.Results The specificity was well improved through the competition and strand displacement of dual padlock probe,with an 83.26%reduction in nonspecific signal.By detecting synthetic RNA samples,the method demonstrated a dynamic detection range of 10 pmol/L-1 nmol/L.Furthermore,clinical samples were applied to the method to evaluate its performance,and the genotyping results were consistent with those obtained using the qPCR method.Conclusion This study has successfully established a highly specific direct RNA SNP detection method,and provided a novel avenue for accurate identification of various types of RNAs.展开更多
As an important wild blueberry resource,Vaccinium uliginosum has attracted more and more attention.At present,the wild resources are under destruction.The conservation of wild Vaccinium uliginosum resources is imminen...As an important wild blueberry resource,Vaccinium uliginosum has attracted more and more attention.At present,the wild resources are under destruction.The conservation of wild Vaccinium uliginosum resources is imminent.However,there are few researches on the protection and preservation of its germplasm resources.In vitro preservation is an important method for germplasm conservation.In this study,one strain of wild Vaccinium uliginosum was used as material.The effects of temperature(25℃,15℃,10℃,or 0℃),media(WPM,1/2WPM or 1/3WPM),medium supplements(sorbitol or mannose),and photoperiod(8,10,12,or 14 h•d^(-1))on the growth,survival rate and rejuvenation rate of the plantlets were studied.The physiological changes of plantlets during preservation were analyzed.Methylation-sensitive amplified polymorphism(MSAP)analysis of genomic DNA methylation of plantlets was carried out to explore the genetic stability of the plantlets after preservation.The research results provided a theoretical basis for the germplasm preservation of Vaccinium uliginosum.展开更多
In this work, comprehensive studies of 2,4-dinitroanisole(2,4DNAN) were carried out using powder thermorentgenography of the internal standard. The time of the complete polymorphic transition in the solid phase β→a ...In this work, comprehensive studies of 2,4-dinitroanisole(2,4DNAN) were carried out using powder thermorentgenography of the internal standard. The time of the complete polymorphic transition in the solid phase β→a in 2,4DNAN under various combinations of conditions has been determined. It has been established that, regardless of the season of manufacture of the substance, when it is stored for 8-9months, with a change in ambient temperature from minus 30℃ to plus 30℃, a complete polymorphic transition β→a occurs. When stored in conditions below minus 5℃, polymorphic transition does not occur. When stored in conditions above plus 30℃ in a closed container, polymorphic transition occurs within 3 weeks. The polymorphic transition is accompanied by a decrease in density by 1.3%-1.5% and an increase in melting temperature by 10-12℃, depending on the degree of purity of the starting substance. The activation energy of the molecular rearrangement was 68-70 k J/mol(16.5 ± 3 kcal/mol). The mechanism of polymorphic transition has been evaluated, which is presumably based on internal homodiffusion and energy transfer to the surface of the mass of powder particles and the product. The average activation energy of the polymorphic transition process was 110 ± 6.2 k J/mol(26.2 kcal/mol). In an open container, reactions proceed by a homogeneous mechanism, and in a closed container by a heterogeneous mechanism involving the gas phase.展开更多
基金Supported by National Key Technology R&D Program in the 11th Five Year Plan of China (2008BADB2B01)
文摘The follicle stimulating hormone beta-subunit （FSHβ） gene plays an important role in piglets. Marker-assisted selection （MAS） in conjunction with traditional selection methods is most effective for improving the piglets breeding traits. To find the new SNPs, the polymorphism of it in six pig breeds （Min, Landrace, Yorkshine, Duroc, wild boar, and wild boar × Landrace） was analyzed by using PCR-SSCP and was further compared with each other. Polymorphism was found and the sequencing results showed that there was one silent mutation on exon2 （C48T） and two mutations on exon3 （T422C and A514G）. Genotype distribution of FSHβ in Min and wild boar on exon3 was in accordance with Hardy-Weinberg Law.
文摘Background and objective:Lung cancer is one of the malignant tumors.Gene mutations associated with cellular immune function and regulating the activation and proliferation of immune cells.Several publications have explored the relationship between cytotoxic T lymphocyte antigen-4(CTLA-4)+49 adenine(A)/guanine(G)polymorphism and susceptibility of lung cancer,but the results remain controversial.Thus,we performed this meta-analysis to derive a more comprehensive estimation of the relationship.Methods:All articles addressed lung cancer and polymorphisms of CTLA-4 were searched from the Pub Med,EMBASE databases published up to June 29,2019.Odds ratios(ORs)with 95%confidence intervals(CIs)were used to assess the strength of association.Publication bias of relevant studies was examined via Begg’s test and funnel plots.Results:The meta-analysis included 8 case-control studies covering 4,430 lung cancer patients and 5,198 healthy controls from September 2008 to April 2020.The overall eligible data indicated that CTLA-4+49 A/G polymorphisms did not correlate with the elevated lung cancer risk in all genetic comparison models(dominant model:OR=1.037,95%CI:0.925-1.161;recessive model:OR=0.968,95%CI:0.888-1.055;allele model:OR=0.992,95%CI:0.933-1.054;homozygous model:OR=0.980,95%CI:0.857-1.121;heterozygous model:OR=1.023,95%CI:0.906-1.154).In further stratified analyses,CTLA-4+49 A/G polymorphism was found to be significantly associated with susceptibility to NSCLC in these models(dominant model:OR=1.404,95%CI:1.074-1.836;allele model:OR=1.273,95%CI:1.034-1.565;homozygous model:OR=1.553,95%CI:1.044-2.310;heterozygous model:OR=1.308,95%CI:1.062-1.611).Conclusion:CTLA-4+49 A/G polymorphism were not associated with the risk of lung cancer but might be a risk factor only in NSCLC.
基金Supported by the National Natural Science Foundation of China(31301935)Ph.D.Programs Foundation of Ministry of Education of China(20112325120013)
文摘Reproduction trait plays an important role in pig production. Identification of molecular markers that are linked to litter size may contribute to the genetic development of porcine reproduction traits. In this study, porcine ring finger protein 4 （pRNF4） and Matrix metalloproteinase 9 （pMMP-9） were selected as candidate genes on the basis of their physiological roles in reproduction. Two single-nucleotide polymorphisms （416C〉T in pRNF4 and - 1257G〉A in pMMP-9） that could be detected by PCR restriction fragment length polymorphism （PCR-RFLP） were discovered and tested for statistical associations with litter size traits in three populations. For 416C〉T, TT genotype was associated with a significantly higher （p〈0.05） number of live births than those recorded for CC sows and the additive effect was significant （p〈0.05） in Qingping and Min Pigs populations in later parities. For -1257G〉A, inconsistent results were found in three populations. The results suggested that T allele in pRNF4 gene might confer a high prolificacy in breeding and further studies were needed to confLrm the results.
基金Supported by Program for New Century Excellent Talents in University(NCET-04-0343)National Natural Science Foundation Key Project(30430510)Excellent Young Teachers Program of MOE.People's Republic of China(1985)
文摘Based on chicken＇ consensus map issued in 2000, 17 microsatellites near 4 candidate genes such as IGF2, OBR, GDF8 and APOA 1 in 4 chromosomes （chromosome 5, 7, 8 and 24） were chosen for polymorphism analysis and construction of linkage map. Combining the technique of PCR and the fluorescent semi-automated detection, genome scanning was performed for 440 chickens, which was derived from China Agricultural University chicken resource families within three generations. The individuals of this resource families were genotyped. The results showed that the number of alleles ranged from 4 to 14; heterozygosity （H） of markers was between 0.3116 and 0.9148. Polymorphic information content （PIC） varied from 0.2672 to 0.8679. Microsatellites along with above-mentioned 4 candidate genes doing as general markers were used to construct linkage map. The spans of 4 linkage maps constructed in the part region of chromosome 5, 7, 8 and 24 were 263.5, 79.9, 206.2 and 104.2 cM, respectively. The order of markers was consistent with that of counterpart of reported consensus map. However, The spans of linkage map were larger than that of consensus map. The constructed linkage maps laid the foundation for mapping quantitative trait loci （QTL） responsible for economically important traits in chicken.
基金Project(03GZ3072)supported by the Science end Technology Departmeat of Hunan Provincepproject(2004035206)supported by the China Poatdoctoral Foundationprojecl(30300383)supported by the National Natuml Sciences Foundastion of China
文摘Objective Tacrolimus is an immunosuppressive drug with narrow therapeutic range and wide interindividual variation in its pharmacokinetics.Tacrolimus is a substrate of cytochrome P450(CYP)3A5.The aim of this study was to evaluate whether the A6986G polymorphism is associated with tacrolimus concentration/dose ratio.Methods Fifty-two Chinese renal transplant patients were enrolled in this study.Their body weight,dosage and concentration of tacrolimus were observed.CYP3A5 genotype was determined by polymerase chain reaction followed by restriction fragment length polymorphism analysis.Results A significant association was found between tacrolimus levels per dose/kg/d and CYP3A5 gene A6986G polymorphism(P<0.001).The CYP3A5*3*3 patients have a significantly higher tacrolimus level/dose than CYP3A5*1*1 and CYP3A5*1*3.Conclusions CYP3A5 gene A6986G polymorphism is associated with tacrolimus pharmacokinetics and dose requirements.Pharmacogenetic methods could be employed prospectively to help the dose selection and to individualize immunosuppressive therapy according to the result.
文摘The cytochrome P450 2El （ CYP2E1 ） and aldehyde dehydrogenase 2 （ALDH2） have been demonstrated that they were related to the development of hepatocellular carcinoma （HCC）. However, the associations have not been explained conclusively, and the combined analysis with the CYP2E1 Rsa I polymorphism and the ALDH2 pol- ymorphism have not been clarifed. In this study, we performed a meta-analysis to interpret the association between CYP2E1 and ALDH2 polymorphisms and HCC risk. Published literatures were retrieved from PubMed and Embase up to July, 2014. The pooled odds ratio （OR） with 95% confidence interval （CI） was calculated by using fixed- effects or random-effects model. A total of twelve case-controlled studies with 1 077 cancer cases and 2 000 controls concerning the CYP2E1 polymorphism were selected for this meta-analysis. The results indicated that there was no significantly associations between CYP2E1 polymorphism and risk of HCC （cl/c2 vs el/el ： OR - 1.11, 95% CI： 0.88-=1.39, P-0.38; c2/c2 vs el/el. OR -0.90, 95% CI. 0.54-=1.50, P-0.69; cl/c2 ＋ c2/c2 vs el/ el ： OR - 1.07, 95% CI： 0.89 -~ 1.30, P -0.47）. Further analysis of subgroup based on the ethnicity also showed no statistically significant associated with risk of HCC between the East Asians and the Europeans. In addi- tion, eight studies including 911 cases and 1 903 controls were included in this meta-analysis about the association between ALDH2 polymorphism and HCC risk. Results Based on our study also showed no significant association between ALDH2 polymorphism and the risk of HCC risk （ ＊ 1/＊ 2 vs ＊ 1/＊ 1： OR -0. 92, 95% CI： 0.65 -＊ 1.32, P-0.66; ,2/,2 vs ＊ 1/＊ 1. OR -0.82, 95% CI. 0.57-=1.18, P-0.28, ＊ 1/,2 ＋ ,2/,2 vs ＊ 1/＊ 1 ： OR -0.90, 95% CI. 0. 63 -- 1.29, P -0. 57）. The present meta-analysis indicated that there was no sig- nificant association between CYP2E1 polymorphism or ALDH2 polymorphism and HCC risk in the East Asians and the Europeans.
基金The project supported by National Naural Science Foundation of China(81422052)Special Topic of the Major Subject of National Science and Technology(2012ZX09509-107)Hunan Provincial Natural Science Foundation of China(13JJ1010)
文摘OBJECTIVE To evaluate the association between DNA(cytosine-5)-methyltransferase 3 alpha(DNMT3A)genetic polymorphisms and the disease prognosis of R882 mutation negative acute myeloid leukemia(AML)patients.METHODS DNMT3A 11 SNPs(rs11695471,rs2289195,rs734693,rs2276598,rs1465825,rs7590760,rs13401241,rs7581217,rs749131,rs41284843 and rs7560488)were genotyped using a MassA RRAY platform or Sanger sequencing method in 317 diagnostic non-FABM3 AML patients without R882 mutation from southern China.AML patients underwent combined chemotherapy with cytarabine and anthracyclines.Overall survival(OS)and Disease-free survival(DFS)as major end points were defined.The prognostic(median OS and DFS)evaluations were performed by Kaplan-Meier curve and Cox′s proportional hazard model.RESULTS We found that the rs2289195 G>A SNP could act as a poor prognostic predictor independently(HR=0.442,P=0.035 for OS;HR=0.431,P=0.031 for DFS),while the rs1465825 T>C SNP and rs7590760 G>C SNP appeared to predict independently poor prognosis for both OS(HR=1.453,P=0.037 for rs1465825;HR=1.584,P=0.063 for rs7590760)and DFS(HR=1.459,P=0.057 for rs1465825;HR=1.965,P=0.017for rs7590760).However,no significant associations between other DNMT3A polymorphisms and prognosis(OS in conjunction with DFS)were observed.CONCLUSION DNMT3A polymorphisms may be potential predictive markers for AML prognosis in R882 mutation negative patients,which might improve prognostic stratification of AML.
基金The project supported by National Natural Science Foundation of China(81422052,81403017)Special Topic of the Major Subject of National Science and Technology(2012ZX09509-339107)+1 种基金Hunan Provincial Natural Science Foundation of China(13JJ1010)by Funds for Hunan Education Department Program(12K006)
文摘OBJECTIVE SNPs in lnc RNAs may alter the expression or secondary structure of lnc RNAs and then impact their functions.Whether lnc RNA SNPs affect the prognosis of acute myeloid leukemia(AML)remains unknown.To search the association between lnc RNA SNPs and AML outcomes,thirty tag SNPs in GAS5,H19,MALAT1,WT1-as and SRA were genotyped in313 AML patients.METHODS Survival analysis was performed in both AML patients recruited presently and GEO samples.The expression of GAS5 and TP63 was analyzed by real-time quantitative PCR.Dual-luciferase reporter gene assay was used to confirm the interactions between GAS5 rs55829688 and TP63.RESULTS Survival analysis indicated that rs55829688(T>C),located in GAS5 promoter,was significantly associated with the prognosis of AML.The average overall survival(OS)for patients with the rs55829688 CC genotype was significantly shorter than those carrying the rs55829688 T allele(P=0.018).Patients with rs55829688 CC genotype showed higher GAS5 expression in PBMCs than carriers of rs55829688T allele(P=0.025).Rs55829688 CC homozygotes also harbored a longer platelets recovery than those with rs55829688 T allele(P=0.040).In vitro study showed that GAS5 promoter harboring the rs55829688 C al ele showed marginal y increased reporter gene activity(P=0.054),and the promoter activity was increased by TP63 in a dose-dependent manner(P=0.001).Moreover,GAS5 expression was associated with AML OS in the GEO GSE12417 dataset,and GAS5 higher expression predict shorter OS(P=0.011).CONCLUSION Rs55829688 polymorphism could increase GAS5 expression by interacting with TP63 and was associated with worse OS in Chinese AML patients.
基金Supported by National Natural Sciences Foundation of China(39970533)
文摘Three breeds of sows were observed to investigate the relationship between Single Nucleotide Polymorphisms（SNPs） in Mu Opioid Receptor（MOR）and stereotypic behaviour,such as,sham-chewing,bar biting and standing still in order to better understand the mechanism of stereotypic development of the animals in restrained conditions.MOR exon 2 partial sequences were amplified to analyze single nucleotide polymorphisms by PCR-SSCP.One SNP,a silence mutant was found.A significant difference （P〈0.01）was found in the frequency of genotypes in these 3 breeds where only the BB genotype,which was identical to that published in GenBank,was found in the Duroc breed,while no AA genotype was found in Landrace,3 genotypes AA,BB and AB were found in Yorkshire.The result also indicated that the individuals with AA and AB genotypes tended to be more active in sham-chewing than those with the BB genotype（P〈0.05）.The overall results of this study suggested that sham-chewing of sows may be subjected to both genetic control and environmental conditions,but activity level was more likely to be affected by their environment.We can putatively draw the conclusion that MOR gene has effect on the sham-chewing behavioral traits of sow.
基金Key Items of Plan of Science and Technology of Heilongjiang Province (CGB01B104)
文摘In order to further study functions of the porcine myostatin gene, we analyzed the polymorphisms of porcine myostatin gene in promoter region among different breeds including Yorkshire, Landrace, Duroc, Junmu, Min pig and Sanjiang white pig by PCR-RFLPs. The allele T dominated in the imported lean-type pig breeds such as Yorkshire, Landrace and Duroc. No allele A was detected in Junmu and Sanjiang white pig, and the frequencies of three genotypes were about equal in Min pig. The result using X2 analysis showed that the distribution of three genotypes was related to pig breeds.
文摘Polymorphisms of porcine ob exon 1 and exon 2 among different breeds including Landrace, Duroc, Min pig, Yorkshire pig, double-muscled Yorkshire, Sanjiang pig, wild boar and cross bred pig were analyzed by PCR-SSCP in the current study. Three pairs of primers according to the ob cDNA sequence obtained from GenBank database were designed to amplify the first two exons, which were then genotyped by SSCP. The T to C transversion was found in exon 2, which resulted in 3 genotypes named AA, AB and BB, respectively in these different porcine breeds. There was only genotype of BB in the Min pig, while no allele B was detected in double-muscled Yorkshire, and the 3 genotypes all existed in other breeds. There was significant difference on the genotype frequencies in various breeds. There was a trend that the frequency of allele A was positively associated with muscle ratio distribution on the one hand, and on the other hand, it was linked to the selected direction. So the allele A could be used as a selective marker of high muscle ratio in pig breeding.
文摘While we studied pharmacokinetics of SM-12502 which was under development as an anti-PAF agent, we found three subjects showing a slow metabolic phenotype in its pharmacokinetics. Analyzing the genes for CYP2A6 from the three subjects, we discovered that the three subjects possessed the whole CYP2A6 gene deletion (CYP2A6*4C), a novel genetic polymorphism of the CYP2A6 gene. Genetically engineered Salmonella YG7108 cells expressing human CYP2A6 or CYP2E1 together with the NADPH-CYP reductase were established in our laboratory to compare the mutagen-producing capacity of these enzymes for various N-nitrosamines. We found that CYP2E1 was responsible for the metabolic activation of N-nitrosamines with relatively short alkyl chains, whereas CYP2A6 was involved in the metabolic activation of N-nitrosamines possessing relatively bulky alkyl chains such as a tobacco-specific nitrosamine, NNK, which has been known to cause lung tumor in rodents. Thus, to examine a hypothesis that individuals possessing the CYP2A6*4C have the reduced risk of lung cancer due to the lack of the capacity of the metabolic activation of certain carcinogens in tobacco smoke, a case-control study was performed.
文摘Objective:To investigate the association between the polymorphism of HLA-A,HLA-B genes and pre-eclampsia. Methods:HLA-A,HLA-B genotyping was performed by polymerase chain reaction sequence-specific primer (PCR-SSP) in 119 preeclampsia patients,117 normal pregnant women and their neonates. Results:The study showed that 16 HLA-A and 39 HLA-B alleles were obtained in pre-eclamptic patients and normal pregnant women. 15 HLA-A and 37 HLA-B alleles were obtained in their neonates. No significant difference was found in maternal or neonatal HLA-A,HLA-B alleles between pre-eclampsia group and control group (P_(c)>0.05). The frequencies of HLA-A11,HLA-A24,HLA-B13,HLA-B14,HLA-B15,HLA-B52 maternal/fetus genetic assoications were significantly diffe-rent between pre-eclampsia group and control group (P<0.05). Conclusion:Some HLA-A,HLA-B maternal/fetus special bindings may be associated with the susceptibility or protective of pre-eclampsia.
文摘Objective To evaluate the association of GGN repeat polymorphism of androgen receptor(AR)with ovarian reserve and ovarian response in controlled ovarian stimulation(COS).Methods This genetic association study was conducted among a total of 361 women aged≤40 years with basal FSH≤12 U/L undergoing the GnRH-agonist long protocol for COS in a university affiliated IVF center.GGN repeat in the AR gene was analyzed with Sanger sequencing.The primary endpoint was the number of antral follicle counts(AFCs),and the secondary endpoints were stimulation days,total dose of gonadotropin(Gn)used,total number of retrieved oocytes,ovarian sensitivity index,and follicular output rate.Results The GGN repeat in exon 1 of the AR gene ranged from 13 to 24,and the median repeat length was 22.Based on the genotypes(S for GGN repeats<22,L for GGN repeats≥22),the patients were divided into 3 groups:SS,SL,and LL.Generalized regression analysis indicated that the number of AFCs in group SS was significantly lower than those in group SL(adjusted β=1.8,95%CI:0.2-3.4,P=0.024)and group LL(adjusted β=1.5,95%CI:0.2-2.7,P=0.021).No significant difference was observed in the number of AFCs between group SL and group LL(P>0.05).Generalized regression analysis indicated no significant differences in ovarian stimulation parameters among the 3 groups,either before or after adjusting for confounding factors(P>0.05).Conclusion GGN repeat length on the AR gene is associated with AFC but not with ovarian response in Chinese women,indicating that AR gene polymorphisms may affect ovarian reserve.
文摘Objective The detection of RNA single nucleotide polymorphism(SNP)is of great importance due to their association with protein expression related to various diseases and drug responses.At present,splintR ligase-assisted methods are important approaches for RNA direct detection,but its specificity will be limited when the fidelity of ligases is not ideal.The aim of this study was to create a method to improve the specificity of splintR ligase for RNA detection.Methods In this study,a dualcompetitive-padlock-probe(DCPLP)assay without the need for additional enzymes or reactions is proposed to improve specificity of splintR ligase ligation.To verify the method,we employed dual competitive padlock probe-mediated rolling circle amplification(DCPLP-RCA)to genotype the CYP2C9 gene.Results The specificity was well improved through the competition and strand displacement of dual padlock probe,with an 83.26%reduction in nonspecific signal.By detecting synthetic RNA samples,the method demonstrated a dynamic detection range of 10 pmol/L-1 nmol/L.Furthermore,clinical samples were applied to the method to evaluate its performance,and the genotyping results were consistent with those obtained using the qPCR method.Conclusion This study has successfully established a highly specific direct RNA SNP detection method,and provided a novel avenue for accurate identification of various types of RNAs.
基金Supported by the National Natural Science Foundation of China(32172521)。
文摘As an important wild blueberry resource,Vaccinium uliginosum has attracted more and more attention.At present,the wild resources are under destruction.The conservation of wild Vaccinium uliginosum resources is imminent.However,there are few researches on the protection and preservation of its germplasm resources.In vitro preservation is an important method for germplasm conservation.In this study,one strain of wild Vaccinium uliginosum was used as material.The effects of temperature(25℃,15℃,10℃,or 0℃),media(WPM,1/2WPM or 1/3WPM),medium supplements(sorbitol or mannose),and photoperiod(8,10,12,or 14 h•d^(-1))on the growth,survival rate and rejuvenation rate of the plantlets were studied.The physiological changes of plantlets during preservation were analyzed.Methylation-sensitive amplified polymorphism(MSAP)analysis of genomic DNA methylation of plantlets was carried out to explore the genetic stability of the plantlets after preservation.The research results provided a theoretical basis for the germplasm preservation of Vaccinium uliginosum.
基金supported by the Ministry of Science and Higher Education of the Russian Federation(Agreement with Zelinsky Institute of Organic Chemistry RAS Grant No.075-15-2020-803).
文摘In this work, comprehensive studies of 2,4-dinitroanisole(2,4DNAN) were carried out using powder thermorentgenography of the internal standard. The time of the complete polymorphic transition in the solid phase β→a in 2,4DNAN under various combinations of conditions has been determined. It has been established that, regardless of the season of manufacture of the substance, when it is stored for 8-9months, with a change in ambient temperature from minus 30℃ to plus 30℃, a complete polymorphic transition β→a occurs. When stored in conditions below minus 5℃, polymorphic transition does not occur. When stored in conditions above plus 30℃ in a closed container, polymorphic transition occurs within 3 weeks. The polymorphic transition is accompanied by a decrease in density by 1.3%-1.5% and an increase in melting temperature by 10-12℃, depending on the degree of purity of the starting substance. The activation energy of the molecular rearrangement was 68-70 k J/mol(16.5 ± 3 kcal/mol). The mechanism of polymorphic transition has been evaluated, which is presumably based on internal homodiffusion and energy transfer to the surface of the mass of powder particles and the product. The average activation energy of the polymorphic transition process was 110 ± 6.2 k J/mol(26.2 kcal/mol). In an open container, reactions proceed by a homogeneous mechanism, and in a closed container by a heterogeneous mechanism involving the gas phase.
