摘要
目的:探讨一个中国Joubert综合征家系的致病基因及位点。方法:对该Joubert综合征家系的先证者进行全外显子组测序,通过与已知数据库的比对分析,找到候选的致病基因及位点,利用聚合酶链式反应(PCR)和Sanger测序进行验证。结果:在先证者的8号染色体CSPP1基因上存在2个杂合突变位点,分别为c.1132C>T,p.R378X以及c.2244_2245delAA,p.E750GfsX30。这两个位点在家系中符合遗传共分离规律。结论:全外显子组测序结合Sanger测序发现CSPP1基因的c.1132C>T,p.R378X以及c.2244_2245delAA p.E750fsX30位点为引起该Joubert综合征家系临床病变的突变位点,这是国内首次报道的由CSPP1基因突变导致的Joubert综合征病例。
Objective： To investigate the causal gene and its genetic loci in a Chinese family with Joubert syndrome. Methods： Whole exome sequencing was applied to examine the DNA sample of proband patient in a family with Jou- bert syndrome, Data were aligned and mapped to the human genome reference （hg19）. Variants were called by GATK and filtered by public database. Polymerase chain reaction followed by Sanger sequencing was used to verify the candi- date variants. Results： Two compound heterozygous variants in CSPP1 gene of chromosome 8 of proband patient were identified, which were c.1132C〉T, p.R378X and c.2244 2245delAA, p.E750GfsX30. The two genetic loci conformed to genetic separation rule in the family. Conclusion： c.1132C〉T, p,R378X and c,2244_2245delAA, p.E750GfsX30 of CSPP1 gene are genetic loci to cause Joubert syndrome, which is found by whole exome sequencing combined with San- ger sequencing. This is the first reporting that Joubert syndrome caused by CSPP1 mutations in China.
出处
《中国计划生育学杂志》
2018年第1期56-61,共6页
Chinese Journal of Family Planning
基金
国家自然科学基金青年科学基金项目(81400937)
作者简介
通信作者:李玉堂,liyht@sina.com
