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QF-PCR在染色体异常男性不育症诊断中的应用
作者姓名:Qi ML  Zhang YY  Liu XL  He R  Zhao YY
作者单位:中国医科大学附属盛京医院临床遗传科,沈阳,110004
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。

关 键 词:无精子症  遗传学  基因  STR  SRY

Chromosomal abnormality diagnosis of male infertility by QF-PCR
Qi ML,Zhang YY,Liu XL,He R,Zhao YY.Chromosomal abnormality diagnosis of male infertility by QF-PCR[J].Hereditas,2011,33(8):895-900.
Authors:Qi Man-Long  Zhang Yuan-Yuan  Liu Xiao-Liang  He Rong  Zhao Yan-Yan
Institution:QI Man-Long,ZHANG Yuan-Yuan,LIU Xiao-Liang,HE Rong,ZHAO Yan-Yan Department of Clinical Genetics,Shengjing Hospital,China Medical University,Shenyang 110004,China
Abstract: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 f...
Keywords:azoospermia  genetics  gene  STR  SRY  
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