不育男性无精子症因子微缺失的分子与临床特征:5年研究回顾

AZF microdeletions on the Y chromosome in infertile Chinese men:A five-year retrospective analysis

目的:近年来,Y染色体长臂无精子症因子(AZF)微缺失与男性不育关系的研究已经取得了很大的进展。然而,AZF微缺失的形成机理及各种缺失类型与临床表型之间的关系还不十分确定。本研究的目的是探讨中国不育男性的Y染色体微缺失的发生率、缺失类型以及基因型与表型之间的关系。方法:本研究对2005年至2009年本院男科门诊502例非梗阻性无精子症和306例严重少精子症的不育男性进行Y染色体AZF缺失分析。结果:AZF总体缺失率为7.80%(63/808),其中无精子症不育男性缺失率为9.16%(46/502),严重少精症患者为5.56%(17/306)。完全的AZFa缺失或AZFb缺失患者的精液中均没有成熟精子,而AZFc缺失的表型是多样化的。1例部分AZFb缺失患者有成熟精子发生,精子密度呈轻度进行下降。最常见的缺失类型为AZFc b2/b4亚型,占60.32%(38/63),其中39.47%(15/38)的患者精液中能发现成熟精子,其中1例为自然遗传的AZFc b2/b4缺失。63例缺失患者中仅1例AZFc b2/b4缺失患者的精子密度超过2×109/L。结论:AZF微缺失对精子发生障碍具有良好的诊断和评估价值。对Y染色体微缺失的大样本临床研究有利于进一步明确基因型与表型的关系,更好地理解AZF缺失的机制。

Objective：The past few years have seen great progress in the studies of the relationship between AZF microdeletions and male infertility.However,some molecular and clinical concerns are not supported by definitive data.The aim of this study was to investigate the prevalence and types of AZF microdeletions in infertile Chinese men,and the indications for genotype-phenotype correlation.Methods：We retrospectively analyzed Y chromosome AZF microdeletions among 502 patients with nonobstructive azoospermia and 306 with severe oligozoospermia received in our hospital during the past five years.Results：Microdeletions were detected in 7.80% of the patients（63/808）,9.16% in the men with nonobstructive azoospermia（46/502） and 5.56% in those with severe oligozoospermia（17/306）.Complete AZFa and AZFb（P5/Proximal P1） deletions were associated with azoospermia,whereas AZFc deletion with variable spermatogenic phenotypes.A mild decline in sperm concentration was found in one male with partial AZFb deletion.The most frequent deletion was the AZFc b2/b4 subtype（60.32%,38/63）,and 39.47% of the cases（15/38） had sperm in the ejaculate.Of the 63 deletions,only one case of the AZFc b2/b4 type had a sperm concentration of over 2 million sperm/ml.Conclusion：AZF microdeletions play a significant role in the diagnosis and evaluation of spermatogenic defects.Larger-scale clinical researches on Y chromosome microdeletions may give us a deeper insight into their mechanism and the genotype-phenotype relationship.