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
【目的】探究酪氨酸酶相关蛋白1b(tyrosinase-related protein 1b,TYRP1b)基因变异与斑马鱼体色性状的相关性。【方法】以体色表型存在显著差异的红色、黄色和蓝色斑马鱼共计219个样本的肌肉组织DNA为模板,设计3对引物,采用PCR扩增、San...【目的】探究酪氨酸酶相关蛋白1b(tyrosinase-related protein 1b,TYRP1b)基因变异与斑马鱼体色性状的相关性。【方法】以体色表型存在显著差异的红色、黄色和蓝色斑马鱼共计219个样本的肌肉组织DNA为模板,设计3对引物,采用PCR扩增、Sanger测序技术筛查TYRP1b基因单核苷酸多态性(single nucleotide polymorphisms,SNPs),并将SNPs与斑马鱼体色性状进行关联分析。【结果】获得的斑马鱼TYRP1b基因外显子2、部分内含子3、外显子4、内含子4、外显子5、内含子5、外显子6和外显子7长度分别为134、212、168、135、180、113、150、171 bp。SNPs筛查显示,3种体色斑马鱼群体共筛查到18个SNPs,部分内含子3存在11个SNPs位点:g.2125G>A、g.2150G>A、g.2152G>T、g.2161C>A、g.2175A>T、g.2180G>T、g.2185A>T、g.2192A>C、g.2200A>T、g.2201A>C和g.2213T>C;内含子4检测到4个SNPs位点:g.7C>A、g.65A>G、g.84T>A和g.103C>T;内含子5存在1个SNPs位点:g.61G>T;外显子4、6分别存在1个SNPs位点:g.125G>T和g.80T>A,且均为同义突变;外显子2、5和7均未检测到SNPs。关联分析表明,TYRP1b基因内含子3中g.2152G>T、g.2175A>T、g.2180T>G、g.2192A>C、g.2200A>T、g.2201A>C位点、内含子4中g.65A>G位点及外显子6中g.80T>A位点的基因型均与斑马鱼体色性状极显著相关(P<0.01)。【结论】斑马鱼TYRP1b基因内含子3、4及外显子6存在8个与体色表型存在关联的SNPs,可能影响斑马鱼体色性状或与之紧密连锁。展开更多
目的:研究长链非编码RNA(lncRNA)生长阻滞特异性转录物5(GAS5)基因多态性与多囊卵巢综合征(PCOS)发病的关联性。方法:选取2018年5月~2019年5月在广西右江民族医学院附属医院生殖医学中心确诊的236例PCOS患者作为病例组,同时选取同期性...目的:研究长链非编码RNA(lncRNA)生长阻滞特异性转录物5(GAS5)基因多态性与多囊卵巢综合征(PCOS)发病的关联性。方法:选取2018年5月~2019年5月在广西右江民族医学院附属医院生殖医学中心确诊的236例PCOS患者作为病例组,同时选取同期性别、年龄相匹配的277例健康女性作为对照组,采用iMLDR单核苷酸多态性(SNP)分型方法检测GAS5基因rs145204276 I/D、rs55829688 C/T和rs6790 G/A位点基因型。采用logistic回归分析GAS5基因多态性与PCOS的相关性。结果:GAS5基因rs145204276 I/D位点多态性在对照组和PCOS组之间差异有统计学意义,logistic回归分析结果显示,与I/I基因型相比,I/D和D/D基因型以及显性模型I/D+D/D具有较低的PCOS发病风险[I/D vs I/I:OR(95%CI)=0.61(0.42,0.88),P=0.009;D/D vs I/I:OR(95%CI)=0.44(0.23,0.84),P=0.013;I/D+D/D vs I/I:OR(95%CI)=0.57(0.40,0.81),P=0.002];与I等位基因相比,D等位基因显著降低PCOS的发病风险[D vs I:OR(95%CI)=0.62(0.47,0.82),P=0.001]。rs55829688 C/T和rs6790 G/A位点多态性在对照组和PCOS组之间比较差异均无统计学意义(P>0.05)。单倍型联合分析显示D-T-A单倍型在对照组和PCOS组间的分布差异有统计学意义[OR(95%CI)=0.61(0.45,0.84),P=0.002]。结论:GAS5基因rs145204276 I/D位点多态性可能与PCOS遗传易感性相关,即携带D等位基因的个体可能具有较低的PCOS发病风险。展开更多
【目的】挖掘西瓜耐盐相关的关键候选基因,为探究西瓜应答盐胁迫的机制、培育耐盐西瓜新品种奠定重要基础。【方法】通过对121份西瓜核心种质材料的耐盐性相关指标进行测定,利用全基因组关联分析(genome-wide association study,GWAS)...【目的】挖掘西瓜耐盐相关的关键候选基因,为探究西瓜应答盐胁迫的机制、培育耐盐西瓜新品种奠定重要基础。【方法】通过对121份西瓜核心种质材料的耐盐性相关指标进行测定,利用全基因组关联分析(genome-wide association study,GWAS)定位与表型数据相关的单核苷酸多态性(single nucleotide polymorphisms,SNPs)变异位点,并对候选区间内的基因进行功能注释,最终利用耐盐材料和盐敏感材料的转录组数据确定耐盐相关的关键候选基因。【结果】在根表面积指标下鉴定出1个显著SNP位点,在候选区间内获得23个基因;在根K^(+)含量指标下鉴定出25个显著SNP位点,在候选区间内获得25个基因;在根Na^(+)含量指标下鉴定出2个显著SNP位点,在候选区间内获得10个基因;在根可溶性糖含量指标下鉴定出1个显著SNP位点,在候选区间内获得18个基因。所有候选基因在150 mmol·L^(-1)Na Cl处理前后的耐盐和盐敏感材料中,Cla97C08G145130、Cla97C04G073300和Cla97C01G009540三个候选基因的表达量均受盐胁迫的诱导显著上调表达。【结论】推测Cla97C08G145130、Cla97C04G073300和Cla97C01G009540为西瓜耐盐相关的关键候选基因,为解析提高西瓜耐盐性的分子机制及开发分子标记用于辅助选择育种奠定了基础。展开更多
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.
文摘目的探讨龙血竭联合氟尿嘧啶注射液对不同转化生长因子-β(Transforming growth factor-β,TGF-β)单核苷酸多态性瘢痕疙瘩患者的疗效。方法纳入2019年7月—2022年1月医院收治的瘢痕疙瘩患者240例,根据TGF-β单核苷酸多态分为野生组(野生型TGF-β)、突变组(突变型TGF-β),并将突变组分为亚组:rs747857组(rs747857型TGF-β)、rs1800469组(rs1800469型TGF-β)、rs2241716组(rs2241716型TGF-β)。使用氟尿嘧啶注射液单药治疗或血竭联合氟尿嘧啶注射液治疗5组患者。5组患者治疗前和首次治疗后12个月通过温哥华瘢痕量表(Vancouver scar scale,VSS)、瘢痕评估量表(Patient and observer scar assessment scale,POSAS)和皮肤病生活质量指数(Dermatologic quality of life index,DLQI)量表进行评分。结果与野生组比较,突变组、rs747857组、rs1800469组、rs2241716组TGF-βmRNA的表达水平均上升(P<0.05)。与野生组相比,单药治疗下突变组、rs1800469组和rs2241716组患者在治疗后VSS总评分、POSAS总评分均显著上升(P<0.05);而与单药治疗相比,联合治疗下突变组、rs1800469组和rs2241716组患者在治疗后VSS总评分、POSAS总评分均显著下降(P<0.05)。与野生组相比,rs2241716组患者在治疗后的DLQI量表评分均显著上升(P<0.05);而与单药治疗相比,联合治疗下rs2241716组患者在治疗后的DLQI量表评分均显著下降(P<0.05)。与野生组相比,rs1800469组和rs2241716组患者在治疗后的有效率显著下降(P<0.05);而与单药治疗相比,联合治疗下rs1800469组和rs2241716组患者在治疗后的有效率显著上升(P<0.05)。与野生组相比,突变组、rs1800469组和rs2241716组患者的首次显效及达到首次显效时氟尿嘧啶次数均延后(P<0.05);而与单药治疗相比,联合治疗下突变组、rs1800469组和rs2241716组患者的首次显效及达到首次显效时氟尿嘧啶次数均提前(P<0.05)。与单药治疗相比,联合治疗下野生组、突变组、rs747857组、rs1800469组、rs2241716组的总不良反应更少(P<0.05)。结论龙血竭联合氟尿嘧啶注射液对不同TGF-β单核苷酸多态性瘢痕疙瘩患者有较好的疗效,和较少的不良反应。
文摘目的:研究长链非编码RNA(lncRNA)生长阻滞特异性转录物5(GAS5)基因多态性与多囊卵巢综合征(PCOS)发病的关联性。方法:选取2018年5月~2019年5月在广西右江民族医学院附属医院生殖医学中心确诊的236例PCOS患者作为病例组,同时选取同期性别、年龄相匹配的277例健康女性作为对照组,采用iMLDR单核苷酸多态性(SNP)分型方法检测GAS5基因rs145204276 I/D、rs55829688 C/T和rs6790 G/A位点基因型。采用logistic回归分析GAS5基因多态性与PCOS的相关性。结果:GAS5基因rs145204276 I/D位点多态性在对照组和PCOS组之间差异有统计学意义,logistic回归分析结果显示,与I/I基因型相比,I/D和D/D基因型以及显性模型I/D+D/D具有较低的PCOS发病风险[I/D vs I/I:OR(95%CI)=0.61(0.42,0.88),P=0.009;D/D vs I/I:OR(95%CI)=0.44(0.23,0.84),P=0.013;I/D+D/D vs I/I:OR(95%CI)=0.57(0.40,0.81),P=0.002];与I等位基因相比,D等位基因显著降低PCOS的发病风险[D vs I:OR(95%CI)=0.62(0.47,0.82),P=0.001]。rs55829688 C/T和rs6790 G/A位点多态性在对照组和PCOS组之间比较差异均无统计学意义(P>0.05)。单倍型联合分析显示D-T-A单倍型在对照组和PCOS组间的分布差异有统计学意义[OR(95%CI)=0.61(0.45,0.84),P=0.002]。结论:GAS5基因rs145204276 I/D位点多态性可能与PCOS遗传易感性相关,即携带D等位基因的个体可能具有较低的PCOS发病风险。
