摘要目的 探讨四川地区近6年不育男性Y染色体无精子症因子(azoospermia factor,AZF)微缺失的发生率、缺失类型及其与临床表型的关系.方法 应用多重PCR方法对713例非梗阻性无精症和298例重度少精症的男性进行Y染色体AZF微缺失分析.结果 AZF总体缺失率为10.48％ (106/1011),其中非梗阻性无精症患者缺失率为11.08％ (79/713),重度少精症患者缺失率为9.06％ (27/298).AZFa与AZFb完全缺失者均表现为无精症.AZFc缺失为最常见缺失类型且具有多种表型,占60.38％,其中37.50％的缺失者精液中有成熟精子.2例AZFb和1例AZFb-c部分缺失者精子密度呈轻度下降.结论 AZFc区是Y染色体AZF微缺失的缺失热点,AZFa或AZFb缺失者以及部分AZFc缺失者均表现为无精症.本研究进一步明确了AZF缺失基因型与表型的关系,证实Y染色体AZF微缺失检测对诊断男性不育具有重要的价值.

abstractsObjective To investigate the prevalence and subtypes of microdeletions in azoospermia factor (AZF) region in infertile men from Sichuan in order to correlate genotypes with phenotypes.Methods Multiplex PCR was used to detect sequence tagged sites (STS) of AZF microdeletions in 1011 infertile men including 713 cases of non-obstructive azoospermia and 298 cases of severe oligospermia.Results The overall prevalence of microdeletions was 10.48％ (106/1011),and the deletion rates were 11.08％ (79/713) in non-obstructive azoospermia and 9.06％ (27/298) in severe oligospermia.Complete AZFa or AZFb deletions were associated with azoospermia,whereas AZFc deletion (60.38％) was the most frequent deletion.The deletions were associated with variable spermatogenic phenotypes,and 37.50 ％ of the patients with a deletion had sperms in the ejaculate.A mild decline in sperm concentration was found in two cases with partial AZFb deletion and one case with partial AZFb-c deletion.Conclusion Deletions of the AZFc region were most commonly found in our patients.All cases with complete AZFa or AZFb deletions and a proportion of cases with AZFc deletion were associated with azoospermia.Our study has provided more insight into the genotype-phenotype correlation,and confirmed that Yq microdeletion screening has a significant value for the diagnosis for male infertility.