基础医学与临床 ›› 2009, Vol. 29 ›› Issue (11): 1189-1193.

• 研究论文 • 上一篇    下一篇

四引物扩增受阻突变体系分析少精、无精症患者白细胞MLH3基因C2531T突变

禄婷婷 徐克前   

  1. 中南大学湘雅医学院检验系
  • 收稿日期:2009-02-11 修回日期:2009-04-10 出版日期:2009-11-20 发布日期:2009-11-20

Detection the MLH3 gene C2531T mutation in oligospermia and azoospermia by 4P-ARMS-PCR

Ting-ting LU, Ke-qian XU   

  1. Department of Clinical Laboratory, Medicine of Xiangya School,Central South University
  • Received:2009-02-11 Revised:2009-04-10 Online:2009-11-20 Published:2009-11-20

摘要: 目的 分析错配修复蛋白MLH3基因 C2531T 突变与少精、无精症的关系。方法 以MLH3 C2531T为例建立四引物扩增受阻突变体系(4P-ARMS-PCR)方法;分别用4P-ARMS-PCR和PCR-RFLP检测81例少精、无精症患者和80例正常对照者MLH3 C2531T;随机抽取20%标本测序进行验证。结果 MLH3 C2531T CT+TT基因型在患者中有明显的流行,且MLH3 C2531T T等位基因与疾病存在相关性(P<0.01);PCR-RFLP检测结果与4P-ARMS-PCR检测结果完全一致,测序结果相同。结论 4P- ARMS-PCR可快速、简便、准确检测基因单核苷酸突变(SNP); 错配修复蛋白MLH3 C2531T多态性与少精、无精症存在相关性。

关键词: 4P-ARMS-PCR, 少精, 无精症, MLH3

Abstract: Objective Analysing the association of mismatch repair protein MLH3 gene C2531T mutation in oligospermia and azoospermia cases. Methods Using MLH3 C2531T as an example to establish a method of tetra-primer amplification refractory mutation system-PCR (4P-ARMS-PCR);We chose 81 cases of oligospermia, azoospermia patients and 80 normal controls , detecting MLH3 C2531T both using 4P-ARMS-PCR and PCR-RFLP; randomly to select 20% samples to sequence. Results The date suggested higher prevalence of CT+TT genotypes in patients as compared to the controls and association of T allele with disease(P<0.01) ; PCR-RFLP results, 4P-ARMS-PCR results and sequence results are fully consistent. Conclusion 4P-ARMS-PCR can be a rapid, simple and accurate detection of gene mutation of single nucleotide polymorphism (SNP); MLH3 C2531T polymorphism is associated with oligospermia and azoospermia.

Key words: 4P-ARMS-PCR, oligospermia, azoospermia, MLH3

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