智力障碍小家系中致病基因的研究  

Disease-causing gene in a family with mental retardation

作　　者：郭辉[1] 刘富华[2] 欧明林 林琳华[1] 任景慧[1] 曾君[1] 李启运[1] 林秀华[1] 梁灼健[1] 戴勇[1] 

机构地区：[1]深圳市人民医院遗传病诊断和产前诊断中心,广东深圳518020 [2]桂林181医院中心实验室,广西桂林541002

出　　处：《第三军医大学学报》2016年第8期889-892,共4页Journal of Third Military Medical University

基　　金：深圳市科技计划项目(医疗卫生类,201302005)~~

摘　　要：目的研究一个智力发育障碍家系中的致病基因突变。方法染色体核型G显带方法分析先证者染色体核型,用全基因组外显子测序的方法探究致病基因,并在先证者家系中用Sanger测序法进行验证。结果 G显带核型分析未显示先证者染色体核型的数目和结构异常。全基因组外显子测序的方法共从先证者外显子基因中鉴别出1 455个单核苷酸多态性(single nucleotide polymorphisms,SNPs)和187个indels,结合家系信息筛选出X染色体上ARHGAP4基因突变与智力障碍表型相关,Sanger测序法验证结果一致,符合孟德尔家系遗传。结论 X染色体上ARHGAP4的C2822T突变位点可能与家系中的智力障碍疾病表型相关。Objective To explore the candidate disease-causing gene in a mental retardation family.Methods The proband＇s chromosome karyotype was analyzed,and whole-exome sequencing was performed to screen the candidate gene. Sanger sequencing was used to check the result of whole-exome sequencing and investigate the genotypes in the patient＇s family. Results The proband＇s karyotype was normal（ 46,XY）in G-banding level. Using whole-exome sequencing method,1 455 single nucleotide polymorphisms and 187 indels were identified in the proband. Combined with the family information and the result of Sanger sequencing,ARHGAP4 gene with C2822 T mutation in X chromosome was screened from the data and identified as disease-causing gene in the family. Conclusion C2822 T mutation in ARHGAP4 gene on X chromosome may be related with the phenotype of mental retardation in this family.

关 键 词：X染色体连锁智力障碍 ARHGAP4 外显子测序 

分 类 号：R394-33[医药卫生—医学遗传学] R394.5[医药卫生—基础医学]