安徽地区87例男性不育患者的遗传学病因分析

Genetic analysis on 87 infertile male patients in Anhui.

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。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 mierodeletion. Methods ： This study uses the G - banding method to make the karyotype analysis, and uses 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 to have 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 eanse of male infertility.