目的 研究染色体异常、SRY基因突变及Y染色体AZF基因微缺失等遗传学病因与男性不育的关系.检测少精子症不育患者血液和精子基因组AZF微缺失情况.方法 采用染色体G显带对87例男性不育患者进行核型分析,采用PCR技术对患者SRY基因突变及Y染色体AZF基因微缺失进行检测.结果 87例男性不育患者中发现染色体异常25例(28.74%);XX男性反转1例(1.15%);AZF微缺失4例(4.60%).总的遗传学异常检出率为34.48%.结论 染色体异常及Y染色体AZF微缺失等是引起男性不育的重要遗传学病因.%Objective To investigate the relationship between the male infertility and the genetic causes such as chromosomal abnormality, mutation of SRY, AZF microdeletion. To investigate the microdeletion of AZF gene in genomic DNA from blood and semen of infertile men with oligozoospermia. Methods This study used the G-banding method to make the karyotype analysis, and used polymerase chain reaction(PCR) method to detect the mutations of SRY and Y chromosome microdeletions in the infertile male patients. Results In the total of 87 cases, 25 (28.74％) were found chromosomal abnormality, 1 ( 1.15％ ) had mutation of SRY, 4 (4. 60％ ) showed AZF microdeletions. The total genetic abnormality ratio was 34. 48％. Conclusion Chromosomal abnormality and AZF microdeletion on Y chromosome is the important genetic cause of male infertility, and the microdeletion of AZF gene in blood genomic DNA is similar to that in semen.
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