CAJ | 학술논문

男性不育是一种常见的复杂疾病,Y染色体连锁生精障碍是该病的一个重要病因.Y染色体男性特异性区域存在大量的重复序列,这些序列间频发的染色体内非等位性同源重组,使Y染色体具备了高变异率的特点,这些结构变化较易引起生精相关基因的剂量改变,进而导致男性不育.作者对近年来DNA水平上男性不育相关的Y染色体变异研究进行了综述.
남성불육시일충상견적복잡질병,Y염색체련쇄생정장애시해병적일개중요병인.Y염색체남성특이성구역존재대량적중복서렬,저사서렬간빈발적염색체내비등위성동원중조,사Y염색체구비료고변이솔적특점,저사결구변화교역인기생정상관기인적제량개변,진이도치남성불육.작자대근년래DNA수평상남성불육상관적Y염색체변이연구진행료종술.
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.