SEPT12基因中单核苷酸多态性G5508A与原发男性不育关系的研究

The research of the relationship between new single nucleotide polymorphism G5508A in the SEPT12 gene and idiopathic male infertility

目的探讨SEPT12基因多态性与原发男性不育的关系。方法采用PCR和测序技术,对67名原发不育男性和100名对照者的SEPT12基因(的热点区段)进行扩增和测序。结果 SEPT12基因G5508A多态性的基因型有三种:GG,GA,和AA。在原发不育男性和对照者中,这三种基因型的比例有显著性差异(卡方检验,P≤0.05)结论 SEPT12基因中单核苷酸多态性G5508A对男性的精子发生,生育能力有影响,这个观点还需要更多的实验来验证。

Objective：To investigate the association between SEPT12 gene variation and idiopathic male infertility.Methods：In the current study,67 infertile men and 100 normal controls were analyzed for genetic alterations in the active site coding region of SEPT12,using PCR-Sequencing technique. Results：Genotype analysis indicated that G5508 A polymorphic SEPT12 alleles were distributed in three peaks of frequency in both control and diseases groups. Categorization of the alleles into（GG）,（GA）,and（AA）types revealed a significant difference between infertile patients and normal controls（P≤ 0.05 by chi-square test）. Conclusion：According to our finding we suggest that G5508 A polymorphism in SEPT12 gene can affect on spermatogenesis in men,the opinion needs more investigation in different populations.