中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2010年
4期
393-396
,共4页
PATZ1基因%单核苷酸多态性%无精症
PATZ1基因%單覈苷痠多態性%無精癥
PATZ1기인%단핵감산다태성%무정증
PATZ1 gene%single nucleotide polymorphism%azoospermia
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.
目的 研究PATZ1基因的4箇單覈苷痠多態性(single nucleotide polymorphism,SNP)rs2240424、rs2057951、rs2240427和rs714909的多態性與無精癥的關繫.方法 用PCR-限製性片段長度多態性分析方法,在180例無精癥患者和190名正常男性中對上述4箇SNP位點的基因頻率和基因型頻率分佈進行調查.結果 rs2057951位點的等位基因C(35.0%vs.27.6%,P=0.031)和帶有等位基因C箇體(CT+CC)(57.8%vs.46.3%,P=0.027)的頻率在無精癥患者顯著高于正常男性.4種SNP的單倍型在兩組人群中的分佈差異有統計學意義(P=0.01),單倍型ACAC(11.1%vs.6.6%,P=0.029)和ACGC(11.2%vs.5.2%,P=0.003)在無精癥患者中顯著高于正常男性.結論 PTAZ1的rs2057951位點的等位基因C和單倍型ACAC和ACGC增加無精癥的易感性,提示PTAZ1基因可能與無精癥髮病相關.
목적 연구PATZ1기인적4개단핵감산다태성(single nucleotide polymorphism,SNP)rs2240424、rs2057951、rs2240427화rs714909적다태성여무정증적관계.방법 용PCR-한제성편단장도다태성분석방법,재180례무정증환자화190명정상남성중대상술4개SNP위점적기인빈솔화기인형빈솔분포진행조사.결과 rs2057951위점적등위기인C(35.0%vs.27.6%,P=0.031)화대유등위기인C개체(CT+CC)(57.8%vs.46.3%,P=0.027)적빈솔재무정증환자현저고우정상남성.4충SNP적단배형재량조인군중적분포차이유통계학의의(P=0.01),단배형ACAC(11.1%vs.6.6%,P=0.029)화ACGC(11.2%vs.5.2%,P=0.003)재무정증환자중현저고우정상남성.결론 PTAZ1적rs2057951위점적등위기인C화단배형ACAC화ACGC증가무정증적역감성,제시PTAZ1기인가능여무정증발병상관.
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.
