FOXO1基因在中国人群非梗阻性无精子症中的突变筛查

目的探讨非梗阻性无精子症患者FOXO1基因编码区的变异。方法PCR扩增81例中国男性非梗阻性无精子症患者和207例中国男性健康对照组FOXO1基因全编码区域，对PCR扩增产物进行测序筛查基因突变类型。随后进行功能实验来初步研究这些变异的功能。结果一名非梗阻性无精子症患者发现一个新的杂合性错义突变（p.Ser318Gly）。功能实验证实这个突变会影响FOXO1的生物学功能。结论第一次在非梗阻性无精子症患者中发现FOXO1基因的突变，表明FOXO1基因可能是导致非梗阻性无精子症发病的一个候选基因。

SCREENING OF FOXO1 GENE MUTATION IN CHINESE MEN WITH NON - OBSTRUCTIVE AZOOSPERMIA

Objective To explore the mutations of FOXO1 in coding regions in NOA patients. Methods In this study, direct sequencing of PCR products was performed to screen potential mutations after the coding regions of the FOXO1 gene of 81 Chinese men with NOA and 207 healthy individuals as the control group were amplified by PCR. Then functional experiments were used to study the functions of the variations. Results A novel non- synonymous heterozygous mutation in one patient with NOA was identified （p. Ser318Gly） while was not found in 207 unrelated healthy controls. Functional assays showed that the mutation affected the biological function of FOXO1. Conclusion The FOXO1 gene mutation is first found in NOA patients, demonstrating that FOXO1 can be a candidate gene that responsible for the pathogenesis of NOA.