精子发生相关新基因KLHL-10在无精子症及少弱精子症患者中突变筛查分析  

Mutation of KLHL-10 in Idiopathic Infertile Males with Azoospermia,Oligospermia or Asthenospermia

作　　者：邱庆明[1] 刘刚[1] 李维娜[1] 史秋雯[1] 朱复希[1] 卢光琇[1] 

机构地区：[1]中南大学生殖与干细胞工程研究所,湖南长沙410078

出　　处：《中华男科学杂志》2009年第11期974-979,共6页National Journal of Andrology

基　　金：国家科技部973项目(2007CB948103)~~

摘　　要：目的:探讨精子发生相关新基因KLHL-10突变与无精子症及少、弱精子症之间的关系。方法:收集临床上不明原因的、非阻塞性无精子症及少、弱精子症患者(分别为11例、196例和118例)共325份外周血标本以及100份正常生育男性的外周血标本,抽提其DNA,采用PCR技术、变性高效液相色谱技术以及测序等手段对全部DNA样本进行KLHL-10基因的突变筛查。结果:在少精子症患者组及正常生育男性组中各发现1例及3例在1号外显子有C88→A的新的杂合突变,系同义突变;在少精子症患者组、弱精子症患者组及正常生育男性组中各检出3例、1例及4例在2号外显子有C424→A的新的杂合突变,也系同义突变;尚未发现有该基因的错义突变或微缺失。结论:KLHL-10基因错义突变或微缺失不是引起本组无精子症及少、弱精子症患者的主要致病原因,该基因在男性不育症的诊断价值有待进一步确定。Objective： To investigate the relationship of the mutation of the spermatogenesis-associated gene KLHL-10 with azoospermia,oligospermia and asthenospermia.Methods： Genomic DNA was extracted from the peripheral blood samples of 325 patients with idiopathic azoospermia（n = 11）,oligozoospermia（n = 196） or asthenospermia（n = 118） and 100 fertile male controls.KLHL-10 mutations were detected for all the DNA specimens by PCR,DHPLC and sequencing techniques.Results： A novel heterozygous mutation（C88→A） was identified in exon 1 from 1 oligospermia patient and 3 fertile male controls and another one（C424→A） confirmed in exon 2 from 4 fertile controls,3 oligospermia patients and 1 asthenospermia man.Both of the mutations were synonymous,but neither missense mutation nor microdeletion of the KLHL-10 gene was found.Conclusion： The KLHL-10 gene is not a major contributor to azoospermia,oligospermia or asthenospermia in Chinese population.The value of this gene in the diagnosis of male infertility remains to be further investigated.

关 键 词：KLHL-10基因 男性不育症 基因突变 筛查 单核苷酸多态性 

分 类 号：R698.2[医药卫生—泌尿科学]