KIT基因单核苷酸多态性与四川地区男性不育的相关性研究  

Association of KIT gene single nucleotide polymorphism with human male infertility in Sichuan han population

作　　者：张敏[1] 丁显平[1] 朱一剑[1] 沈梦捷[1] 冉静[1] 付莉[1] 

机构地区：[1]四川大学生命科学学院生物资源与生态环境教育部重点实验室遗传医学研究所,成都610064

出　　处：《四川大学学报（自然科学版）》2011年第4期961-966,共6页Journal of Sichuan University(Natural Science Edition)

基　　金：重庆市教委科研基金(20100704)

摘　　要：基于Luminex平台,应用多重等位基因特异性引物延伸反应(allele-specific primerextension,ASPE),对130例无精症、严重少精症患者与115例男性可育对照者KIT基因的4个单体型标签SNPs(haplotype tagging SNP):rs3819387、rs3796768、rs2237023、rs12646437的基因型进行检测并做关联分析.结果显示病例组与对照组中rs3819387、rs3796768、rs2237023、rs12646437位点基因型频率分布均符合Hardy-Weinberg平衡定律;病例组与对照组KIT基因4个htSNP位点的基因型频率、基因频率及单倍体型差异均无统计学意义(p>0.05),即KIT基因单核苷酸多态性与四川地区汉族男性不育没有相关性,提示其可能不是四川地区汉族男性不育的遗传易感因素.A total of 130 idiopathic infertile men and 115 unrelated healthy controls were genotyped by allele-specific primer extension method based on Luminex 100TM platform for four haplotype tagging SNPs （rs3819387, rs3796768, rs2237023 and rs1264643） within the genomic region of the KIT gene. It was found that the genotype frequencies of rs3819387, rs3796768, rs2237023 and rs12646437 both in ca- ses and controls were consistent with Hardy-Weinberg equilibrium （P〉0.05）. There was no significant difference in allele frequencies or genotype frequencies between cases and controls at the four htSNPs. Haplotype analysis also failed to demonstrate a significant association with human male infertility （P〉0.05）. The data indicated that there was no association between KIT SNPs and male infertility in Sichuan Han popultion, suggesting that it may be not the genetic susceptibility factor of male infertility in Sichuan Han population.

关 键 词：男性不育 单核苷酸多态性 ASPE KIT基因 

分 类 号：Q343.1[生物学—遗传学]