Yang Yuan, Zhang Si-zhong
Department of Medical Genetics, West China Hospital, Sichuan University, Chengdu, Sichuan, 610041 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Jun;27(3):276-81. doi: 10.3760/cma.j.issn.1003-9406.2010.0.009.
Male infertility is a common complex disease. Y-linked spermatogenic failure is an important cause for this disorder. Due to the presence of many repeat sequences and the frequent occurrence of non-allelic homologous recombination between the sequences in the male-specific region of the Y (MSY) region of the chromosome, Y chromosome possesses high variation rate. The variations may result in the dosage changes of spermatogenesis-related gene families and lead to male infertility. The present article reviews the recent progress of the study on Y chromosome variations, and its possible effect on spermatogenic function, in DNA level.
男性不育是一种常见的复杂疾病。Y 连锁生精功能障碍是导致该疾病的一个重要原因。由于 Y 染色体男性特异区(MSY)存在许多重复序列,且这些序列之间经常发生非等位基因同源重组,Y 染色体具有较高的变异率。这些变异可能导致生精相关基因家族的剂量变化,进而导致男性不育。本文从 DNA 水平综述了 Y 染色体变异及其对生精功能可能影响的研究进展。