人类Y染色体臂间倒位的发生频率及其临床意义  

Frequency of pericentric inversion of human Y chromosome and its clinical significance

作　　者：徐珊珊 周冰燚 李铭臻 蒋敏 朱胜辉 郑立新 Xu Shanshan;Zhou Bingyi;Li Mingzhen;Jiang Min;Zhu Shenghui;Zheng Lixin(NHC key laboratory of Male Reproduction and Genetics,Guangdong Provincial Reproductive Science Institute(Guangdong provincial Fertility Hospital),Guangzhou 510600,China)

机构地区：[1]广东省生殖科学研究所(广东省生殖医院)国家卫生健康委员会男性生殖与遗传重点实验室,广州510600

出　　处：《中国药物与临床》2022年第1期37-39,共3页Chinese Remedies & Clinics

摘　　要：目的通过对孕前检查的男性和捐精人群之间的Y染色体臂间倒位[inv(Y)]携带率的比较,探讨Y染色体臂间倒位与不育的关系,进一步说明Y染色体臂间倒位产生的临床效应。方法在2014年1月至2020年12月间来广东省生殖医院进行染色体检测的男性和捐精人群中,统计发生inv(Y)的例数,并统计该类携带者的精液质量和Y染色体微缺失检测(AZF)检查的结果。结果10530例孕前健康检查男性中共有34例inv(Y)的携带者,4709例来捐精的人群中共有18例inv(Y)的携带者,inv(Y)的携带率在孕前检查的男性和捐精者之间差异无统计学意义。结论inv(Y)携带者在男性中有一定的携带率,一般不会引起不育或其他病理性临床表现。Objective To investigate the relationship between pericentric inversion of the human Y chro-mosome[inv(Y)]and infertility by comparing the positive rate of pericentricinv(Y)between males underwent pre-pregnancy examination and sperm donors,and to further illustrate the clinical effect of pericentricinv(Y).Methods Between January 2014 and December 2020,the males and sperm donors admitted to Guangdong provincial Fertility hospital for chromosome examination were included as the subjects in the study,and the number of pericentricinv(Y)was counted.The semen quality of such carriers and the results of azoospermia factor(AZF)test were statistically analyzed.Results There were 34 carriers of pericentricinv(Y)among 10530 males underwent pre-pregnancy examination,and 18 carriers of pericentricinv(Y)among 4709 sperm donors.There was no statistically significant difference in the positive rate of pericentricinv(Y)between males underwent pre-pregnancy examination and sperm donors.Conclusion There is a certain positive rate of pericentricinv(Y)among males.It generally does not cause infertility or other pathological manifestations in the clinical settings.

关 键 词：Y染色体 染色体倒位 基因频率 

分 类 号：R596.1[医药卫生—内科学]