301例男性不育患者的Y染色体相关基因和染色体核型分析  

Analysis of karyotype,SRY and AZF gene microdeletion in Y chromosome for 301 Chinese males with infertility

作　　者：封江彬[1] 陆雪[1] 刘青杰[1] 

机构地区：[1]辐射防护与核应急中国CDC重点实验室中国疾病预防控制中心辐射防护与核安全医学所,北京100088

出　　处：《中国优生与遗传杂志》2013年第1期10-11,9,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金项目(81172593)

摘　　要：目的探讨男性不育患者中Y染色体长臂AZF区域、短臂SRY基因的基因缺失和染色体改变所起的作用。方法对301例男性无精或少精症患者采用PCR技术进行基因(AZFa、AZFb、AZFc和SRY)微缺失的检测和染色体核型的分析。结果 301例患者中104例发现基因缺失,其中30例涉及AZFa缺失,40例涉及AZFb缺失,37例涉及AZFc缺失,31例涉及SRY缺失。10例染色体核型为47,XXY,1例为染色体易位46,XY,t(Dq;Dq),其余均为正常核型。1例染色体核型为47,XXY的患者AZFa缺失。结论 Y染色体上的SRY基因和AZF微缺失可能是导致男性不育发生的重要原因之一。应对患者尽早同时进行基因微缺失和染色体核型分析。Objective： Try to explore karyotype,SRY and AZF gene microdeletion in Y chromosome in males with infertility.Methods： SRY,AZFa,AZFb and AZFc were analyzed with multiple PCR in 301 cases of azoospermia or severe oligozoospermia.The karyotypes were also analyzed.Results： There were 104 cases with gene microdeletion.In these cases,30 cases were detected deletions in AZFa,40 cases in AZFb,37 cases in AZFc and 31 cases with SRY deletion.Eleven cases with abnormal karyotype,which 10 cases were 47,XXY,1 case of 46,XY,t（Dq;Dq）.There was one case of 47,XXY with AZFa microdeletion.Conclusion： The microdeletion of SRY and AZF attach importance to some portions of male infertility,it is suggested that gene microdeletion and karyotype should be analyzed simultaneously.

关 键 词：男性不育症 AZF SRY 基因微缺失 染色体 

分 类 号：R698.2[医药卫生—泌尿科学]