一例罕见的47,XXY综合征女性的遗传学病因分析

摘要

目的 对一例智力发育落后、临床表型为女性的患儿进行细胞与分子遗传学分析,探讨其遗传学病因.方法 对患儿进行常规染色体G显带核型分析,并提取其外周血DNA,采用PCR扩增分析SRY基因的变异,并用定量PCR对SRY基因进行拷贝数检测.结果 核型分析显示患儿为47,XXY.SRY基因及拷贝数变异分析显示SRY基因呈大片段缺失,拷贝数为0.结论 患儿的女性表型是由于Y染色体上SRY基因的缺失所致,为国内首例SRY基因阴性、表型为女性的47,XXY病例.%Objective To explore the genetic cause of a female case with intellectual development disorder.Methods G banding karyotyping was performed for the patient.Following DNA extraction,the coding sequence of SRY gene was amplified with PCR and subjected to Sanger sequencing.qPCR was used to detect the copy numbers of the SRY gene.Results The karyotype of the patient was 47,XXY.PCR and qPCR analyses of the SRY gene showed a large deletion with null copy number.Conclusion The female phenotype of the patient is probably due to deletion of the SRY gene on the Y chromosome.This is the first report of 47,XXY female case with deletion of the SRY gene in China.