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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。
Objective To investigate the relationship between chromosomal abnormalities and Y chromosome microdeletions. Methods 578 cases of male infertility patients were from June 2007 to May 2008 Jilin Province Institute of Reproductive Medicine clinical clinic. Clinical manifestations of all patients were azoospermia or severe oligozoospermia. Peripheral blood lymphocyte culture conventional chromosomal specimen preparation, chromosome karyotype analysis. Y chromosome microdeletion analysis was performed on all the patients with azoospermia or severe oligospermia with chromosomal abnormalities using 9 polymerase chain reaction (PCR) techniques. Results Among the 578 cases of genetic counseling, 62 cases of chromosomal abnormalities were detected, the abnormal rate was 10.73%. Including azoospermia or severe oligospermia 10 patients, accounting for 1.73% of the total sample. Two cases of Y chromosome microdeletion were detected in 10 cases of abnormal chromosome karyotype, accounting for 20%. Karyotype 46, XX / 47, XX, + del (Y) (q11) patients with clinical manifestations of small testicular, azoospermia, Y chromosome deletion sites sY157, sY152, sY254, sY255; Karyotype 45, X , -Y, -15, + t (Y: 15) (p?; Q11) patients with idiopathic azoospermia clinical manifestations, deletion sites for sY143, sY254, sY255. Conclusions The chromosomal abnormalities involving the Y chromosome are closely related to the microdeletion of AZF.