威海地区男性不育患者Y染色体微缺失和染色体核型分析

Analysis of Y chromosomal microdeletion and chromosome karyotype in patients with male infertility in the weihai area

目的:通过对威海地区男性不育患者Y染色体微缺失和染色体核型的分析,探讨遗传因素与男性不育之间的相关性,为患者的生育提供指导。方法:通过多重PCR结合琼脂糖凝胶电泳的方法对来院就诊的302例男性不育患者及136例健康男性进行Y染色体微缺失检测,同时用G显带方法分析染色体核型。结果:302例患者中检出染色体异常11例,染色体多态10例,检出率为6.95%。其中最常见的异常核型为47,XXY,占异常核型的54.55%(6/11)。Y染色体AZF基因微缺失检出患者17例,检出率为5.63%。其中最常见类型为AZF c区缺失,占微缺失的70.59%(12/17)。136例健康男性中检出染色体异常3例,染色体多态12例,检出率为11.02%。未检出Y染色体AZF基因微缺失。结论:辅助生殖前进行染色体核型分析及Y染色体微缺失的检测,对男性不育患者明确不育原因以及选择辅助生殖方式具有科学指导意义。

Objective:To investigate the correlation between genetic factors and male infertility by analyzing the Y chromosome microdeletions and chromosome karyotypes of male infertility patients in Weihai area,and to provide guidance for the fertility of patients.Methods:A total of 302 male infertility patients and 136 healthy males were examined by multiple PCR combined with agar-gel electrophoresis.Results:Among the 302 patients,chromosome abnormality was detected in 11 cases and chromosome polymorphism in 10 cases,with a detection rate of 6.95%.The most common abnormal karyotypes were 47,XXY,accounting for 54.55%(6/11)of the abnormal karyotypes.Microdeletion of AZF gene on Y chromosome was detected in 17 patients,with a detection rate of 5.63%.AZF c deletion was the most common type,accounting for 70.59%(12/17)of microdeletions.Among the 136 healthy men,chromosome abnormalities were detected in 3 cases and chromosome polymorphism in 12 cases,with a detection rate of 11.02%.No Y chromosome AZF gene microdeletion was detected.Conclusion:Chromosomal karyotype analysis and Y chromosome microdeletion detection before assisted reproduction are of scientific significance for clarifying the causes of male infertility and selecting assisted reproductive methods.