染色体核型异常和Y染色体微缺失在男性不育中的临床研究

Clinical signification of chromosomal anomalies and Y chromosomal microdeletions in male infertility

目的探讨染色体异常及Y染色体微缺失在男性不育中的临床意义。方法选择2013年1月至2015年6月来大连市妇女儿童医疗中心生殖与遗传医学中心要求助孕的90例无精子症患者(无精子症组),62例严重少精子症患者(严重少精子症组)及50例已有生育史或精液常规检查正常男性自愿者(正常对照组),采用外周血常规染色体制备方法对染色体进行核型分析。其中无精子症组56例,少精子症组42例,正常对照组30例,采用多重聚合酶链反应进行Y染色体无精子因子(AZF)微缺失检测。结果 90例无精子症者检出染色体核型异常16例,异常率为17.8%,均为性染色体异常;62例严重少弱精子症者检出染色体核型异常9例,异常率为14.5%,分别为性染色体异常6例(9.7%),常染色异常3例(4.8%);三组组间比较差异均有显著性意义(P<0.01)。9例无精子症及4例少精子症患者检测出Y染色体AZF微缺失,缺失位点为AZFb 1例、AZFc 10例、AZFd 1例、AZFc+d 1例,30例对照组未见缺失。结论染色体异常与Y染色体微缺失是男性不育的重要病因,其检测为男性不育临床诊断和治疗提供科学依据。

Objective To assess the relevant relationship and clinical significance of Y chromosomal microdeletions and chromosomal anomalies in male infertility. Methods 90 cases of azoospermia,62 cases of severe oligozoospermia and 50 normal fertile men in our reproductive center were recruited. Karyotype analysis was performed in peripheral blood lymphocytes using standard G- banding on all cases. Y chromosome AZF microdeletions were detected using multiplex PCR on 56 cases of azoospermia,42 cases of severe oligozoospermia and 30 normal control. Results Chromosomal anomalies were identified in 16 of 90 azoospermia patients（ 17. 8%）. All abnormalities were on sex chromosomes. Chromosomal anomalies were identified in 9 of 62 oligozoospermia patients（ 14. 5%）,including sex chromosomal abnormalities in 6 patients（ 9. 7%） and euchromosomal abnormalities in 3 patients（ 4. 8%）. The chromosome abnormal rates in both azoospermia and severe oligozoospermia groups were significant higher than that in the healthy men（ P〈0. 01）. AZF microdeletions were identified in 9 azoospermia patients and 4 severe oligozoospermia patients.The microdeletion sites were AZFb 1 case,AZFc 10 cases,AZFd 1 case,and AZFc ＋ d 1 case. No such deletions were observed among the 30 normal fertile men in the contral group. Conclusion Chromosomal anomalies and Y chromosome microdeletions are major causes for male infertility. Chromosomal analysis will provide scientific indications for diagnosis and treatment of male infertility.