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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。
Objective To investigate the variation of FOXO1 gene coding region in patients with non-obstructive azoospermia. Methods The gene encoding FOXO1 gene was amplified by PCR from 81 Chinese male patients with non-obstructive azoospermia and 207 Chinese male healthy controls. The PCR products were sequenced to screen for the gene mutation types. Followed by functional experiments to preliminary study the function of these mutations. Results A non-obstructive azoospermia found a new heterozygous missense mutation (p.Ser318Gly). Functional experiments confirm that this mutation affects the biological function of FOXO1. Conclusions The first FOXO1 gene mutation was found in patients with non-obstructive azoospermia, indicating that the FOXO1 gene may be a candidate gene for the pathogenesis of non-obstructive azoospermia.