QF-PCR在染色体异常男性不育症诊断中的应用  

Chromosomal abnormality diagnosis of male infertility by QF-PCR

作　　者：齐漫龙[1] 张媛媛[1] 刘晓亮[1] 何蓉[1] 赵彦艳[1] 

机构地区：[1]中国医科大学附属盛京医院临床遗传科,沈阳110004

出　　处：《遗传》2011年第8期895-900,共6页Hereditas（Beijing)

摘　　要：为评估定量荧光PCR(QF-PCR)方法在男性不育遗传学诊断中的应用价值,文章对78例非梗阻性男性不育患者,采用精液常规检测精子情况,并检测患者性激素水平;采用QF-PCR方法对患者性染色体多态性STR位点及特异性位点进行检测;采用常规染色体G显带方法进行核型分析;PCR检测AZF微缺失。结果显示78例非梗阻性男性不育患者中发现无精子症患者18例,少精子症患者20例,总检出率为48.72%。采用QF-PCR方法检出3例47,XXY患者,2例46,XX(SRY+)性反转患者,1例AZFc区微缺失患者,与细胞培养染色体分析和AZF微缺失PCR检测结果相符。与传统方法相比,QF-PCR技术能更迅速、直接、可靠地检测到男性不育患者的染色体异常区域,及早发现染色体细微结构异常,有助于染色体异常造成的男性不育症的鉴别诊断。To assess the clinical practice of quantitative fluorescence PCR（QF-PCR） in genetic diagnosis of male infertil-ity patients,78 nonobstructive male infertility patients were pooled for semen routine screening and sexual hormone deter-mination;QF-PCR was applied to detect the polymorphic short tandem repeat（STR） and specific sequence tagged site（STS） of sex chromosomes;routine chromosome G-band was used for karyotype analysis and PCR was used for the detection of AZF microdeletion.Routine screening of semen found 18 azoospermia and 20 oligospermia patients（48.72%）.Three pa-tients with 47,XXY,two with 46,XX（SRY＋）and one with AZFc microdeletion were detected using QF-PCR technique which were verified by chromosome G-band and PCR.This study suggests that QF-PCR is a comprehensive,rapid and reliable method for detecting abnormal chromosomal regions and microstructures compared with traditional tests and pro-vides a better candidate for diagnosis of male infertility caused by chromosomal anomalies and gene mutation.

关 键 词：无精子症 遗传学 基因 STR SRY 

分 类 号：R698.2[医药卫生—泌尿科学]