男性不育患者Y染色体AZF微缺失和外周血染色体核型分析

Analysis of AZF microdeletions of Y chromosomal and karyotype of cells from peripheral blood of infertility male

目的:分析男性不育患者中Y染色体AZF微缺失和染色体核型异常发生情况。方法:回顾性分析2014年7月-2021年7月来本院诊治的392例少精症或无精症患者,采用多重PCR技术进行Y染色体AZF微缺失检测,同时制备外周血染色体并进行核型分析。结果:392例不育男性中共检出27例(6.9%)不同程度AZF微缺失,其中AZFa区微缺失2例,AZFb区微缺失0例,AZFc区微缺失11例,AZFb和c区均缺失3例,共发现5种缺失类型。检出17例染色体核型异常,其中8例常染色体异常,5例47,XXY,1例48,XXYY。检出常染色体多态6例,Y染色体多态12例,1例合并Y染色体和常染色体多态。结论:Y染色体AZF基因微缺失和染色体异常是男性不育的重要因素,其中AZFc区缺失最常见。

Objective:To analyze the situations of AZF microdeletions of Y chromosomal and abnormal karyotype of infertility male.Methods:392 males with oligospermia or azospermia from July 2014 to July 2021 were analyzed retrospectively.AZF microdeletion of Y chromosome was detected by multiplex PCR,and chromosome from peripheral blood was prepared for karyotype analysis.Results:A total of 27 males with AZF microdeletions in varying degrees were detected in 392 infertile males,with the deletion rate of 6.9%.There were 5 kinds of AZFc microdeletions,which included 2 cases with AZFa microdeletion,0 case with AZFb microdeletion,11 cases with AZFc microdeletion,and 3 cases with AZFb and AZFc microdeletions.Karyotype abnormalities were detected in 17 cases,which included 8 cases with autosomal abnormalities,5 case with 47,XXY,and 1 case with 48,XXYY.There were 19 cases with chromosome polymorphisms,which included 6 cases with autosomal polymorphisms,12 cases with Y chromosome polymorphisms,and 1 case with Y chromosome and autosomal polymorphisms.Conclusion:AZF gene microdeletion of Y chromosome and chromosomal abnormality are the important factors of male infertility,and the deficiency of AZFc is the most common.