浙江地区无精子症和少弱精子症患者DAZL基因A260G和A386G单核苷酸多态性分析  

A260G and A386G single nucleotide polymorphisms of the DAZL gene are not correlated with male infertility in the Chinese population of Zhejiang Province

作　　者：倪吴花[1] 杨旭[1] 杨海燕[1] 费前进[1] 潘承双[1] 黄学锋[1] 

机构地区：[1]温州医科大学附属第一医院生殖医学中心,浙江温州325000

出　　处：《中华男科学杂志》2015年第8期713-716,共4页National Journal of Andrology

基　　金：温州市科技计划项目(Y20140728)~~

摘　　要：目的：探讨浙江地区人群中DAZL基因A260G和A386G单核苷酸多态性（SNP）与无精子症和少弱精子症的关系。方法：收集浙江地区无精子症和少弱精子症患者317例和正常生育男性246例外周血标本,利用SNa Pshot SNP分型技术对样本DAZL基因Q260G和A386G多态性位点进行分型。结果：DAZL基因A260G在浙江地区汉族人群中具有多态性,其基因频率与基因型频率分布在病例组和对照组中均符合Hardy-Weinberg平衡。AA、AG和GG的基因型频率在对照组中分别为92.3%、7.3%和0.4%,而病例组中分别为94.3%、5.7%和0%,统计学分析无显著性差异（P=0.430,OR=0.780,95%CI=0.413～1.46）。A386G突变只在正常对照组中出现1例杂合子AG,两组中都没有发现纯合子GG突变,两组之间亦无显著性差异（P=0.259,OR=0.698,59%CI：0.374～1.306）。结论：DAZL基因Q260G和A386G多态性与中国浙江地区无精子症和少弱精子症无相关性,两者都不能作为无精子症和少弱精子症遗传诊断的分子标志。Objective ： To assess the association of the A260G and A386G single nucleotide polymorphisms （SNP） of the DAZL gene with male infertility in the Chinese population of Zhejiang Province. Methods： We collected the peripheral blood samples from 317 idiopathic infertile males with azoospermia or oligozoospermia and 246 normal fertile men, and genotyped the polymorphic loci of the A260G and A386G polymorphisms of the DAZL gene using the SNaPshot technique. Results ： The DAZL gene A260G was found genetically polymorphic in the Chinese population of Zhejiang Province, with the gene frequencies and their distribution consistent to the Hardy-Weinberg equilibrium. The frequencies of the AA, AG and GG genotypes of the A260G polymorphism were 92.3%, 7.3% , and 0.4% respectively in the normal controls and 94.3% , 5.7% , and 0% in the infertile patients, with no statistically signif- icant differences between the two groups （P=0. 43, OR = 0.78, 95 % CI 0. 413 - 1.46）. Heterozygosis （AG） of A386G was found in 1 of the control males but not in the infertile patients, while homozygosis （GG） of A386G was not observed in either group（P = 0. 259, OR = 0.698, 59% CI ： 0. 374 - 1. 306 ）. Conclusion ： A260G and A386G SNPs of the DAZL gene are not associated with spermatogenic failure and neither represents a molecular marker for the genetic diagnosis of male infertility in the Chinese population of Zhejiang Province.

关 键 词：男性不育 DAZL基因 单核苷酸多态性 浙江地区 

分 类 号：R698.2[医药卫生—泌尿科学]