810例严重少_无_精子症患者Y染色体微缺失筛查与分析_纪冬梅.pdf

# 36# 2010 18 2 810() Y 1 1 2 1 2 2 1 1 , , , , , , , ( 1. 上海交通大学医学院附属瑞金医院生殖医学中心, 上海 200025 2. 上海交通大学医学院附属仁济医院人类精子库, 上海 200001) : 目的 筛查原发无精子症 重度少精子症患者 Y 染色体微缺失情况, 探讨 Y 染色体微缺失 男性不育的关 系方法 采用改良多重 PCR方法对 810例男性不育患者 ( 457例原发无精子症和 353例严重少精子症) 基因组 DNA进行 Y 染色体微缺失筛查结果 810例患者中发现 77例 Y染色体微缺失患者, 缺失率为 91 5%, 其中少精子症 31例, 均为 AZFc微缺失, 无精子症 46例, 缺失类型呈多样化缺失类型包括 AZFa 微缺失 3例 ( 31 90% ), AZFb 微缺失 2例 ( 2160% ), AZFc微缺失 63例 ( 81182% ) , AZFb+ c微缺失 4例 ( 51 19% ), AZFa+ b+ c微缺失 5例 ( 6149% )结论 Y 染色体微缺失是原发无精子症和少精子症的重要原因之 一, AZFc缺失为最常见的缺失类型, 对此类患者进行 Y染色体微 缺失的常规筛查是有必要的, 尤其是拟行辅助生殖技术助孕的不育患者 : 无精子因子 (AZF); Y 染色体微缺失; 男性不育 : R6981 2 : A : 1006- 9534 ( 2010) 02- 0036- 03 Screening fo r Y chromosomalm icrodeletions in 810 patients w ith seve re oligozoospe rm ia and azoospe rm ia. JI D ong - m ei, et al. (R eoroductive M ed ical C enter, R uij ing H osp ita,l Shanghai Comunication University, 200025 Abstract: bjective: Screening forY chromosomalm icrodeletions in patientsw ith prmi ary azoosperm ia or severe oligospermia, to explore the clinical relationship between male infertility and of azoosperm ia factor (AZF) region deletion. M ethods: Genome DNA of 810 patients ( 457 prmi ary azoosperm ia and 353 severe oligosperm ia) were screened bymodifiedmultiplex PCR. Results: ut of 810 patients, 77 were found withY chromosomem icrodeletion, w ith a rate of 91 5%, ofwhich 31were oligospermiaw ith the deletion type ofAZFc, 46were azoosperm iawith differentdeletion type. A ll the deletion typewere: 3 ( 319% ) cases inAZFa, 2 ( 216% ) cases in AZFb, 63 ( 811 82% ) cases in AZFc, 4 ( 51 19% ) cases inAZFb+ c, 5 ( 6149% ) cases inAZFa+ b+ c. Conclusions: Y chromo- some