qf-pcr 在染色体异常男性不育症诊断中的应用 - 遗传.pdf

HEREDITAS (Beijing) 2011 8 , 33(8): 895―900 ISSN 0253-9772 研究报告 DOI: 10.3724/SP.J.1005.2011.00895 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 , 110004 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AZF c 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。 无精子症; 遗传学; 基因; STR; SRY Chromosomal abnormality diagnosis of male infertility by QF-PCR 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 found 18 azoospermia and 20 oligospermia patients (48.72%). Three pa- tients with 47, XXY, two with 46,XX(SRY+)and one with AZF c 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 microstruc