染色体核型异常男性不育患者Y染色体微缺失分析

目的探讨染色体核型异常与Y染色体微缺失之间的关系。方法578例男性不育患者均来自2007年6月至2008年5月吉林省生殖医学研究所临床门诊。所有患者临床表现均为无精子症或严重少精子症。外周血淋巴细胞培养常规染色体标本制备,进行染色体核型分析。应用多重聚合酶链反应技术,采用无精子因子区9个序列标签位点对所有染色体异常的无精子症或严重少精子症患者进行Y染色体微缺失分析。结果578例遗传咨询患者中,检测出染色体核型异常患者62例,异常率为10.73%。其中包括无精子症或严重少精子症患者10例,占总样本1.73%。10例染色体核型异常患者检测出Y染色体微缺失2例,占20%。核型为46,XX/47,XX,＋del（Y）（q11）患者临床表现为睾丸小,无精症,Y染色体缺失位点为sY157、sY152、sY254、sY255;核型为45,X,-Y,-15,＋t（Y：15）（p？;q11）患者临床表现为特发性无精子症,缺失位点为sY143、sY254、sY255。结论涉及到Y染色体的染色体核型异常与AZF微缺失密切相关。

Analysis on Y chromosome microdeletion in infertile males with abnormal karyotype

Objective： To Investigate the correlation between chromosome karyotype and Y chromosome microdeletion. Methods： Investigate 578 outpatients with genetic counseling in Institute for Reproductive Medicine of Jilin Province from June 1, 2007 to May 30, 2008. Their peripheral lymphocytes were cultured and the abnormal karyotypes were analyzed. Multilex PCR amplification of 9 sequence -tagged sites in AZF regions of Y chromosome was examined among all infertile male patients with abnormal karyotype and azoospermia / oligozoosoermia. Results： There were 62 cases of abnormal karyotypes in 578 patients with genetic counseling. Of which, 10 cases were azoospermia or oligozoosoermia. Among the 10 cases, the rate of Y chromosome microdeletion was 20% （2/ 10）. Among 2 patient with Y chromosome microdeletion, chromosome karyotypes were 46, XX/47, XX, ＋ del （Y） （ q11 ） and 45, X, - Y, - 15, ＋ t （ Y ： 15） （ p？ ; q11 ）. The former had deletion of AZFc ＋ d regions. The latter had deletion of AZFb ＋ c regions. Conclusion ： Y chromosome microdeletion is one of the major causes of severe dyszoospermia. It is correlated with chromosome karyotypes including abnormal Y chromosome.