湖北地区1108例男性不育患者的Y染色体微缺失分析  

Analysis of Y chromosome microdeletion in 1108 male infertility patients in Hubei area

作　　者：郑红云[1] 廖淑梅 申复进[2] 童永清[1] 王海博 乔斌[1] 吴泽刚[1] 李艳[1] ZHENG Hong-yun;LIAOShu-mei;SHEN Fu-jin;TONG Yong-qing;WANG Hai-bo;QIAO Bin;WU Ze-gang;LI Yan(Department of Clinical Laboratory,People′s Hospital of Wuhan University;Department of Obstetrics and Gynecology,People′s Hospital ofWuhan University Wuhan,430060,China,Wuhan,430060,China)

机构地区：[1]武汉大学人民医院检验科 [2]武汉大学人民医院妇Ⅲ科,武汉430060

出　　处：《中国优生与遗传杂志》2019年第5期547-549,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家自然科学基金(81100959);湖北省自然科学基金(2015CFB185)

摘　　要：目的探讨男性不育患者与Y染色体微缺失之间的关系。方法针对6个Y染色体特异序列标签位点设计引物,采用PCR方法检测男性不育患者的Y染色体微缺失情况。结果1108例男性不育患者中共检出Y染色体微缺失45例,总缺失率为4.06%;其中2例患者发生AZFa(sY84、86)微缺失,缺失率为0.18%;3例患者发生AZFb(sY127、134)微缺失,缺失率为0.27%;38例患者发生AZFc微缺失(sY254、255),缺失率为3.43%;2例患者发生AZF(b+c)(sY127、sY134、sY254、sY255)联合缺失,缺失率为0.18%;Y染色体微缺失构成比分别为AZFa,4.45%;AZFb,6.67%;AZFc,84.45%;AZF(b+c),4.45%。结论男性不育患者发生Y染色体微缺失的主要类型是AZFc区sY254和255,Y染色体微缺失依然是造成男性不育的常见病因之一。Objective:To explore the relationship between infertile men and Y chromosome microdeletions.Methods:Primers were designed with 6 Y chromosome specific sequence tag site labels(STS),and Y chromosome microdeletions in male infertile patients were screened by PCR.Results:In 1108 male infertile patients,45 cases of Y chromosome microdeletions were detected,and the total deletion rate was 4.06%.Among them,2 cases had AZFa(sY84,86)microdeletions with a deletion rate of 0.18%;3 patients developed AZFb(sY127,134)microdeletion,the deletion rate was 0.27%;38 patients had AZFc(sY254,255)microdeletion,the deletion rate was 3.43%;2 patients developed a combined deletion of AZF(b+c)(sY127,sY134,sY254,sY255),the deletion rate was 0.18%;the Y chromosome microdeletion composition ratios were as following:AZFa,4.45%;AZFb,6.67%;AZFc,84.45%;AZF(b+c),4.45%.Conclusion:The main type of Y chromosome microdeletions in male infertile patients is sY254 and 255 in AZFc region.Y chromosome microdeletion is still one of the common causes of male infertility.

关 键 词：男性不育 Y染色体 微缺失 基因扩增 

分 类 号：R698.2[医药卫生—泌尿科学]