检验医学与临床2016，Vol.13Issue(7)：883-884,887,3.DOI:10.3969/j.issn.1672-9455.2016.07.008
全基因组外显子测序捕获黏多糖贮积症Ⅶ型的致病基因 GUSB
Whole genome exome sequencing for capturing GUSB pathogenic gene of mucopolysaccharidosis Ⅶ
摘要
Abstract
Objective To identify the pathogenic gene of the patients with mucopolysaccharidosis Ⅶ (MPSⅦ) to provide a new method for the prenatal diagnosis .Methods The whole genome exome technology was applied to capture the pathogenic gene of the patients ;by combining with the methods of modern bioinformatics ,the Sanger sequencing was used to verify whether the gene mutation locus existing in the genome of the patient′s family mem‐bers or the normal people .Results Theβ‐glucuronidase (GUSB) (g .65444706G> A) gene mutation existed in the patients ,but the normal ones had no this mutation .The mutation of the base caused threonine changibng to azaserine , and thus led to the absence of GUSB activity or the insufficiency of GUSB amount .Conclusion The GUSB gene (g .65444706G>A) mutation is the pathogenic gene in this patients .The whole genome exome sequencing can solve many problems of the traditional positional cloning technology ,such as too few of the patients in the family members of this disease ,sporadic cases ,heterogeneity of the genetic locus ,incomplete exon and too many candidate genes , which provides new approach in the prenatal diagnosis of this disease .关键词
Ⅶ型黏多糖贮积病/致病基因/全基因组外显子测序Key words
mucopolysaccharidosis Ⅶ/pathogenic gene/w hole genome exome sequencing引用本文复制引用
孙玲玲,喻祥奇,朱鹏,戴勇,韦晓莲,任景慧,袁红..全基因组外显子测序捕获黏多糖贮积症Ⅶ型的致病基因 GUSB[J].检验医学与临床,2016,13(7):883-884,887,3.基金项目
广东省科技计划资助项目（2013B060400011）；广东省深圳市科技创新委员会资助项目（JCYJ20140415114652629）；广东省深圳市坪山新区孵化基金资助项目（201320）。 （）
