Y染色体与常染色体易位的遗传学分析及文献学习

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。

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

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.