摘要
目的采用新技术探讨男性不育患者与Y染色体微缺失之间的相关性。方法本研究采用通用引物多重PCR技术取代单纯多重PCR技术,针对Y染色体AZFa,AZFb,AZFc和AZFd区15个标签位点(STS),用于检测540例不育男性Y染色体微缺失。结果 540例男性不育患者中共检出Y染色体微缺失48例,总缺失率为8.9%(48/540)。其中3人发生AZFa sY84缺失,缺失率为0.5%(3/540);4人发生AZFb sY143缺失,缺失率为0.7%(4/540);41人发生AZFc缺失(sY242、sY255、sY254),缺失率为7.6%(41/540)。100例健康男性对照组均未发现Y染色体微缺失。结论 Y染色体微缺失是造成男性不育的常见病因之一,同时本套新型通用引物-多重PCR技术可特异性检测Y染色体微缺失,为临床男性不育患者常规筛查提供了新的策略。
Objective： To explore the relationship between infertile men and Y chromosomal microdeletions by universal multiplex PCR （UP-M-PCR） . Methods： We used UP-M-PCR method to detect 15 STS, which come from AZFa, b, c and d. 540 infertile men were screened by UP-M-PCR method. Results： 48 cases were detected the microdeletions of Y chromosome, and the deletion rate was 8.9% （48/540） . Among them, there were 3 infertile men with Y chromosome microdeletion of AZFa sY84, and the deletion rate is 0.5% （3/540） , and 4 infertile men with Y chromosome microdeletion of AZFb sY143, and the deletion rate is 0.7% （4/540） , and 41 infertile men with Y chromosome microdeletion of AZFc sY242, sY255, sY254, and the deletion rate is 7.6% （41/540） . There wasn＇t Y chromosome microdeletion in normal 100 controls. Conclusion： Y chromosome microdeletion is one of the causes which result in male infertile. Meanwhile, the novel-M-PCR could detect the Y chromosome microdeletions specifically, which will provide a new strategy for routine screening of male infertility.
出处
《中国优生与遗传杂志》
2014年第10期30-33,共4页
Chinese Journal of Birth Health & Heredity
基金
国家自然科学基金资助项目(81100959)
国家临床重点专科建设项目(财社[2010]305号)
关键词
男性不育
Y染色体
多重PCR
通用引物
Male infertility
Y chromosomal microdeletions
Universal primer
