无精和严重少精子症患者Y染色体的微缺失  

Y chromosome microdeletions of 664 Chinese men with azoos-permia or severe oligozoospermia

作　　者：李红钢[1] 丁晓芳[2] 赵江霞 左明达[1] 熊承良[1] 

机构地区：[1]华中科技大学同济医学院计划生育研究所,武汉430030 [2]华中科技大学附属协和医院生殖医学中心,武汉430030 [3]武汉市第七医院病理科

出　　处：《中华医学遗传学杂志》2008年第3期252-255,共4页Chinese Journal of Medical Genetics

基　　金：国家“十五”科技攻关项目（201MBA720A33-01）

摘　　要：目的检测我国无精和严重少精子症患者Y染色体微缺失的发生情况和位点，及其与睾丸病理学类型的关系。方法取584例无精子症和80例严重少精子症患者精液中细胞或外周血白细胞，裂解提取DNA，用4组多重聚合酶链反应检测分布于AZFa、AZFb、AZFc区，包括欧洲男科学会和欧洲分子遗传学质量控制体系推荐的6个位点在内的共15个序列标签位点（sequence tagged site，SIS）的缺失。对部分有Y染色体微缺失患者进行睾丸细针抽吸活检，检查睾丸病理学类型。结果584例无精子症患者中，共有66例（11．3％）发生Y染色体微缺失，各区发生率构成比由高到低依次为：AZFc区48例（72．7％），AZFb＋c区9例（13．6％），AZFa＋b＋c区4例（6．1％），AZFb区3例（4．5％），AZFa区2例（3．0％）。80例严重少精子症患者共有10例发生Y染色体微缺失（12．5％），均为AZFc区缺失。AZFc区缺失患者（19例）睾丸病理学类型多样化；AZFb＋c区或AZFa＋b＋c区缺失患者（7例）睾丸病理学类型为唯支持细胞综合征或生精阻滞于精原细胞。结论Y染色体微缺失在我国的发生情况与其他国家大多数报道基本一致，跨区大缺失对精子发生造成严重影响。Objective To explore the incidence and location of Y chromosome microdeletions in Chinese azoospermia and severe oligozoospermia, as well as the relationship between the deletion region and testicular phenotype. Methods Semen samples or blood samples were collected from 664 Chinese patients （584 with azoospermia and 80 with severe oligozoospermia）. DNA was extracted by incubating cells with a lysis buffer containing palymerase chain reaction （PCR） buffer and proteinase K, and was assayed for deletion of 15 sequence tagged sites （including 6 loci recommended by European Academy of Andrology and European Molecular Genetics Quality Network （FAA/EMQN） distributed in AZFa, AZFb and AZFc by 4 multiplex PCRs. The histological phenotypes of testes of some azoospermic patients harboring Y chromosome microdeletion were studied by fine needle aspiration. Results Sixty-six （ 11.3 % ） cases of microdeletions were found in the 584 patients with azoospermia, and deletions of AZFc region are the leading group （72.7% of all deletions）, followed by AZFbc （13.6%）, AZFabe （6.1%）, AZFb （4.5%） and AZFa （3.0%）. In the 80 men with severe oligozoospermia, 10 （ 12.5 % ） cases of AZFc microdeletions were detected. While azoospermia （ n = 19） with AZFc region deletion showed variable testicular phenotype, deletions of AZFb ＋ c and AZFa ＋ b ＋ c （ n = 7） resulted in severe impaired spermatogenesis characterized by Sertoli cell only syndrome and spermatogenic arrest at spermatogonia. Conclusion In the Chinese men with azoospermia and severe oligozoospermia, the incidence of Y chromosome microdeletions and the frequency of the deletions of the three AZF regions are similar to those described previously in other populations. Massive deletions of AZFb ＋ c and AZFa ＋ b ＋ c impair spermatogenesis severely.

关 键 词：无精子症 少精子症 Y染色体微缺失 无精子基因 

分 类 号：R686[医药卫生—骨科学]