DPY19L2基因与圆头精子症研究进展  

DPY19L2 gene and globozoospermia:An update

作　　者：吴秋月[1] 李娜[1] 夏欣一[1] 殷志敏[2] 

机构地区：[1]南京军区南京总医院解放军临床检验医学研究所,江苏南京210002 [2]南京师范大学生命科学学院,江苏南京210046

出　　处：《中华男科学杂志》2012年第11期1028-1031,共4页National Journal of Andrology

基　　金：国家自然科学基金(30901652);江苏省自然科学基金(BK2011660)~~

摘　　要：圆头精子症是一种严重的畸形精子症,临床上100%圆头缺陷精子的病例比较少见,这类患者精液中精子头部呈圆形,一般无顶体或者顶体异常,可伴有杂乱的中段和尾部。由于顶体内含有精子和卵细胞受精所需要的酶类,这类异常的精子无论体内或体外都不易自主与卵细胞受精,因而圆头精子症患者临床表现为不育。最新研究表明,一种编码跨膜结构域蛋白基因DPY19L2(dpy-19-like 2)的缺失是导致圆头精子产生的主要原因。本文就DPY19L2与圆头精子症的研究进展做一概述,为圆头精子症的基因诊断和分子机制研究提供依据。Globozoospermia is a severe teratozoospermia, and the cases with 100% round-headed sperm are rare clinically. Globozoospermia is generally characterized by absence or abnormality of acrosome, accompanied by round-headed sperm with deranged midpieces and tails. The aerosome normally contains the enzymes that enable sperm to fertilize oocytes, while defective sperm cannot independently fertilize ooeytes either in vivo or in vitro, and therefore globozoospermia makes males infertile clinically. Recent studies show that the deletion of the DPYI9L2 （dpy-19-1ike 2） gene is a major cause of globozoospermia. This paper updates the relationship between DPY19L2 and globozoospermia to provide some evidence for further studies on the gene diagnosis and molecular mechanisms of globozoospermia.

关 键 词：圆头精子症 dpy-19-like 2基因 低拷贝重复序列 非等位基因的同源重组 

分 类 号：R698.2[医药卫生—泌尿科学]