中国当代儿科杂志2013，Vol.15Issue(7)：555-558,4.DOI:10.7499/j.issn.1008-8830.2013.07.012
SRY基因检测在儿童性发育疾病诊断中的应用
SRY gene-testing in the diagnosis of disorders of sex development among children
向萍霞 1戴翔 1冷培 1刘翎 1胡晞江1
作者信息
- 1. 武汉市妇女儿童医疗保健中心生殖医学实验室,湖北武汉430016
- 折叠
摘要
Abstract
Objective To investigate the value of direct sequencing of sex-determining region Y (SRY) gene,as well as peripheral blood karyotype analysis,in the diagnosis of disorders of sex development (DSD) among children and adolescents with ambiguous genitalia.Methods The karyotypes of 20 children and adolescents with ambiguous genitalia were determined by conventional G-banding analysis.PCR amplification was used to detect SRY gene in these patients,and direct sequencing was used to judge whether there was SRY gene mutation.Results Of the 20 cases,17 were positive for SRY gene,and 3 were negative for SRY gene.Direct sequencing revealed no SRY gene mutation in the positive cases,however karyotype analysis found 4 special karyotypes in these patients:46,XY,del (Y) (q12)/45,X ; 46,XY,add (Y) (p11) ; 46,XY,r(9) ; 46,XY,9qh +.Conclusions SRY gene detection can help determine the type of DSD among children and has the advantage of quick detection.Used together with G-banding analysis,it is helpful for primary diagnosis of DSD among children.关键词
SRY基因/性发育疾病/儿童Key words
SRY gene/ Disorders of sex development/ Child引用本文复制引用
向萍霞,戴翔,冷培,刘翎,胡晞江..SRY基因检测在儿童性发育疾病诊断中的应用[J].中国当代儿科杂志,2013,15(7):555-558,4.
