FKBP6基因单核苷酸多态性与原发性无精症相关研究

目的:对Fkbp6基因的编码外显子进行突变和多态性分析,初步探讨其与原发性无精症相关性。方法:运用聚合酶链反应(PCR)结合琼脂糖凝胶电泳和基因序列分析等方法,对65例原发性男性不育患者以及96名已生育的正常男性进行了Fkbp65基因的外显子区域序列分析。结果:基因FKBP6中1个突变位点T141G在无精症患者和正常生育男性中的基因多态性可能是特发性少精无精症的诱发因素之一。因此临床上对原发性不孕不育患者进行FKBP6基因突变筛查是十分必要的。

Investigation of Single Nucleotide Polymorphisms(SNPs) in Gene FKBP6 and its Association with Idiopathic Azoospermia

Objective:To explore the mutation and polymorphisms in gene fkbp6, and preliminarily investigate these polymorphisms'' association with male asthenozoospermia.Methods:Fkbp6 gene of 65 primary infertile patients and 96 normal subjects with offsprings were detected by PCR techniques, in combination with agarose gel electrophoresis and gene sequence analysis.Results:T141G, an important disease-causing gene mutation site of Fkbp6 gene which is essential for sperm development was found to be the candidate gene for male asthenozoospermia. The study demonstrates that T141G, in the coding region of FKBP6 gene, may be one of the causative factors of oligospermia and azoospermia, resulting in male infertility. Clinically, it is necessary to perform a screening examination for FKBP6 within the male primary infertile patients.