Y染色体与常染色体易位的遗传学分析及文献学习  

Genetic analysis of the translotion carriers between Y-autosomes and review of literatures

作　　者：李丹[1] 邵敏杰[2] 赵楠[2] 常亮[2] 高雪峰[2] 焦利萍[2] 王树玉[1] 

机构地区：[1]首都医科大学附属北京妇产医院,100026 [2]北京大学第三医院

出　　处：《中国优生与遗传杂志》2014年第1期27-28,82,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨Y染色体与常染色体易位所产生的遗传效应,为男性不育遗传咨询及治疗提供依据方法回顾性分析8400例不孕不育患者,其中14例为Y染色体与常染色体易位,同时进行Y染色体微缺失检测,并辅以文献学习结果 14例Y-常染色体易位中9例为46,XX/46,XY,der(15)t(Y;15)占Y-常染色体易位的64.3%,其余为Y-非近端着丝粒染色体易位,未发现合并Y染色体微缺失。结论 1.Yq12与近端着丝粒染色体短臂易位,通常不引起表型和生育问题。2.Y染色体与非近端着丝粒染色体易位,会导致减数分裂异常,造成严重的生精障碍,产生无精子症和严重少弱精,从而引起男性不育。Objective ： Genetic effect of Y chromosome and autosomes Translocation is discussed in the study, and the result pro-vides the basis for genetic counseling and treatment of male infertility. Methods： A retrospective analysis of 8400 cases of infertility patients was performed in the research. 14 of them are translocation between Y chromosome and autosomes. Detection of Y chromosome microdeletions was carried out simultaneously, assisted by literature study. Results： 9 of 14 Y - autosomal translocation are 46, XX/ 46 ,XY,der（ 15 ） t（ Y; 15 ）, which accounted for 64. 3% of Y - autosomal translocation. The rest of the 14 samples are Y-non ac-rocentric chromosome translocation. Combining Y chromosome microdeletion is not found. Conclusions： 1. Yql2 and proximal end of short arm centromere of chromosome translocation usually does not cause a phenotype and fertility problems. 2. Y chromosome and non acrocentric chromosome translocation will lead to abnormal meiosis, causing severe spermatogenic failure. As a result, azoospermia and severe oligozoospermia sperm is produced, which cause the male sterility.

关 键 词：Y染色体 常染色体 易位Y微缺失 

分 类 号：R394[医药卫生—医学遗传学]