PATZ1基因单核苷酸多态性与无精症的关系  

Association of single nucleotide polymorphisms of PATZ1 gene with azoospermia

作　　者：黄建喜[1] 阿周存[2] 

机构地区：[1]云南省大理学院基础医学院,671000 [2]云南省大理学院生命科学与化学学院,671000

出　　处：《中华医学遗传学杂志》2010年第4期393-396,共4页Chinese Journal of Medical Genetics

基　　金：基金项目：国家自然科学基金（30770809）

摘　　要：目的 研究PATZ1基因的4个单核苷酸多态性（single nucleotide polymorphism,SNP）rs2240424、rs2057951、rs2240427和rs714909的多态性与无精症的关系.方法 用PCR-限制性片段长度多态性分析方法,在180例无精症患者和190名正常男性中对上述4个SNP位点的基因频率和基因型频率分布进行调查.结果 rs2057951位点的等位基因C（35.0%vs.27.6%,P=0.031）和带有等位基因C个体（CT＋CC）（57.8%vs.46.3%,P=0.027）的频率在无精症患者显著高于正常男性.4种SNP的单倍型在两组人群中的分布差异有统计学意义（P=0.01）,单倍型ACAC（11.1%vs.6.6%,P=0.029）和ACGC（11.2%vs.5.2%,P=0.003）在无精症患者中显著高于正常男性.结论 PTAZ1的rs2057951位点的等位基因C和单倍型ACAC和ACGC增加无精症的易感性,提示PTAZ1基因可能与无精症发病相关.Objective To study the relationship between the polymorphisms of single nucleotide polymorphisms（SNPs） in rs2240424, rs2057951, rs2240427 and rs714909 loci in the PATZ1 gene and azoospermia. Methods The allele and genotype frequencies of the four SNPs were investigated in 180patients with azoospermia and 190 normal men as controls by polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP） analysis. Results The frequencies of allele C （35.0% vs.27.6%, P=0.031） and individuals with allele C （TC±CC） （57. 8% vs. 46. 3%, P=0. 027） at the rs2057951 locus in azoospermic patients were significantly higher than that in normal men. There was a significant difference in distribution of haplotypes of the four SNPs between the two groups （P= 0.01）.Hapoltypes ACAC （11.1% vs. 6.6%, P=0.029） and ACG C （11.2% vs. 5.2%, P=0. 003） increased significantly in azoospermic patients compared with controls. Conclusion The allele C of rs2057951 locus and haplotypes ACAC and ACC C of the four SNPs in PTAZ1 gene increased the susceptibility to azoospermia, suggesting that PATZ1 gene may be associated with azoospermia.

关 键 词：PATZ1基因 单核苷酸多态性 无精症 

分 类 号：R698.2[医药卫生—泌尿科学]