遗传 ›› 2011, Vol. 33 ›› Issue (8): 895-900.doi: 10.3724/SP.J.1005.2011.00895

• 研究报告 • 上一篇    

QF-PCR在染色体异常男性不育症诊断中的应用

齐漫龙, 张媛媛, 刘晓亮, 何蓉, 赵彦艳   

  1. 中国医科大学附属盛京医院临床遗传科, 沈阳 110004
  • 收稿日期:2011-04-29 修回日期:2011-07-14 出版日期:2011-08-20 发布日期:2011-08-25
  • 通讯作者: 赵彦艳 E-mail:yyzhao@sj-hospital.org

Chromosomal abnormality diagnosis of male infertility by QF-PCR

QI Man-Long, ZHANG Yuan-Yuan, LIU Xiao-Liang, HE Rong, ZHAO Yan-Yan   

  1. Department of Clinical Genetics, Shengjing Hospital, China Medical University, Shenyang 110004, China
  • Received:2011-04-29 Revised:2011-07-14 Online:2011-08-20 Published:2011-08-25
  • Contact: Yanyan Zhao E-mail:yyzhao@sj-hospital.org

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

Abstract: To assess the clinical practice of quantitative fluorescence PCR (QF-PCR) in genetic diagnosis of male infertility patients, 78 nonobstructive male infertility patients were pooled for semen routine screening and sexual hormone determination; 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 patients 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 compre-hensive, rapid and reliable method for detecting abnormal chromosomal regions and microstructures compared with tradi-tional tests and provides a better candidate for diagnosis of male infertility caused by chromosomal anomalies and gene mutation.

Key words: azoospermia, genetics, gene, STR, SRY