1个糖原累积症家系的分子诊断与产前诊断  

Prenatal molecular diagnosis in a family with glycogen storage disease

作　　者：李晓丽[1] 张建星[2] 刘伊楚 林宇翔[1] 曾健[1] 林娟[1] 兰风华[1] 王志红[1] LI Xiao-li ZHANG Jian-xing LIU Yi-chu LIN Yu-xiang ZENG Jian LIN Juan LAN Feng-hua WANG Zhi-hong(Department of Experimental Medicine, Fuzhou Clinical College of Fujian Medical University, Fuzhou 350025, Fujian Department of Pe- diatric Surgery, the First Affiliated Hospital, Fujian Medical University, Fuzhou 350005, Fujian, China)

机构地区：[1]福建医科大学福总临床医学院实验科,福州350025 [2]福建医科大学附属第一医院小儿外科,福州350005

出　　处：《临床检验杂志》2016年第7期574-577,共4页Chinese Journal of Clinical Laboratory Science

摘　　要：目的对1个糖原累积症(glycogen storage disease,GSD)家系进行基因突变分析,并对该家系中的一高危胎儿进行产前分子诊断。方法采集该家系先证者及其父母外周血,采用二代测序方法查找先证者致病基因及突变位点,Sanger测序进行突变验证。确定先证者及其父母基因型后采集羊水标本,采用PCR扩增及直接测序方法进行产前分子诊断。结果该家系先证者为G6PC基因c.648G>T纯合突变。双亲均为G6PC基因c.648G>T杂合突变。胎儿携带与父母相同的c.648G>T杂合突变。结论建立了对GSD进行分子诊断和产前分子诊断的方法,并成功应用于1个GSD家系。Objective To identify the mutation of glucose-6-phosphatase（ G6PC） gene in a family with glycogen storage disease（ GSD）,and provide the prenatal molecular diagnosis for a high risky fetus of the family. Methods The peripheral blood samples from the proband and his parents of the family were collected,and the pathogenic genes and mutational sites of the proband were screened by the next generation sequencing and verified by Sanger sequencing. After the genotypes of the proband and his parents were confirmed,the amniotic fluid samples from the proband’ s mother were collected,and performed the prenatal molecular diagnosis by PCR and direct sequencing. Results In the family,the proband carried a homozygous mutation of c. 648 G 〉 T in the G6 PC gene,while his parents carried a heterozygous mutation of c. 648 G 〉 T. The fetus carried the same heterozygous mutation with his/her parents. Conclusion The prenatal molecular diagnosis method for GSD is successfully established,and applied to a family with GSD.

关 键 词：糖原累积症 二代测序 G6PC基因 基因突变 产前诊断 

分 类 号：R575[医药卫生—消化系统]