Y染色体无精子症因子缺失与男性不育的关系

目的探讨Y染色体无精子症因子(AZF)缺失与男性不育的关系。方法随机选取男科门诊不育症患者728例,其中正常精子密度46例,少精子症459例,严重少精子症93例,非梗阻性无精子症71例,梗阻性无精子症45例,射精功能障碍14例;另设正常对照组50名。应用PCR对Y染色体序列标准位点sY84、sY86、sY127、sY134、sY254及sY255进行检测。结果728例不育症患者中,AZF缺失共18例,缺失发生率为2.47%,与正常对照组(0%)比较有统计学差异(P=0.000)。其中严重少精子症8例(8.60%),非梗阻性无精子症10例(14.08%)。结论AZF缺失是男性不育症,特别是无精子症和严重少精子症发病的重要原因之一,其基因检测为男性不育的病因诊断、治疗及预后提供了一定依据。

Relationship between azoospermia factor gene microdeletion in Y chromosome and male infertility

Objective To investigate the relationship between azoospermia factor(AZF) gene microdeletion in Y chromosome and male infertility. Methods Seven hundred and twenty-eight outpatients diagnosed with infertility and 50 normal controls were randomly selected.Of the 728 infertile patients,46 were with normal sperm counts,459 oligospermia,93 severe oligospermia,71 non-obstructive azoospermia,45 obstructive azoospermia and 14 ejaculatory dysfunction.Six sequence-tagged sites(STS) of AZF-sY84,sY86,sY127,sY134,sY254 and sY255 were detected by PCR. ResultsOf all the 728 infertile patients,18 cases of AZF microdeletion were found with an overall prevalence of 2.47%,significantly different from the normal controls(0%)(P=0.000).And the prevalence of AZF microdeletion in those with severe oligospermia and non-obstructive azoospermia were 8.60%(8 cases) and 14.08%(10 cases),respectively. ConclusionMicrodeletion of AZF is significantly related to male infertility,especially to severe oligospermia and azoospermia.Screening for AZF microdeletion may contribute to the clinical diagnosis,treatment and prognosis of male infertility.