检验医学 ›› 2014, Vol. 29 ›› Issue (12): 1212-1214.

• 临床应用研究·论著 • 上一篇    下一篇

无精症及严重少精症患者染色体核型和Y染色体微缺失分析

滕贤麟, 施金俏, 郭辉, 周燕霞   

  1. 浙江省金华市人民医院检验科,浙江 金华 321000
  • 收稿日期:2014-05-12 出版日期:2014-12-30 发布日期:2015-01-14
  • 作者简介:滕贤麟,男,1978年生,学士,主管技师,主要从事临床检验工作。

Analysis on chromosome karyotypes and Y chromosome microdeletions in patients with azoospermia or severe oligozoospermia

TENG Xianlin, SHI Jinqiao, GUO Hui, ZHOU Yanxia   

  1. Department of Clinical Laboratory, Jinhua People's Hospital, Zhejiang Jinhua 321000, China
  • Received:2014-05-12 Online:2014-12-30 Published:2015-01-14

摘要:

目的 分析男性不育中无精症及严重少精症患者染色体核型和 Y染色体微缺失情况及分布特点,为卵细胞浆内单精子注射术(ICSI)辅助助孕前提供遗传学筛选依据。方法 150例无精症及严重少精症患者外周血液采用外周血淋巴细胞培养G显带方法进行染色体核型分析,采用多重聚合酶链反应(PCR)结合琼脂糖凝胶电泳检测Y染色体微缺失。结果 150例无精症及严重少精症患者,染色体核型异常14例,异常率9.3%Y染色体微缺失16例,异常率10.7%结论 对无精症及严重少精症患者进行染色体核型分析和Y染色体微缺失检测,可为患者在ICSI辅助助孕前提供筛选依据,避免在ICSI治疗中将遗传缺陷传递给子代,同时减少患者精神上和经济上的负担。

关键词: 染色体, 核型, Y染色体微缺失, 无精症, 严重少精症

Abstract:

Objective  To investigate chromosome karyotypes and Y chromosome microdeletions and their distribution characteristics in patients with azoospermia or severe oligozoospermia in order to provide thev reference for genetic screening of intracytoplasmic sperm injectionICSI before pregnancy. Methods A total of 150 patients with azoospermia or severe oligozoospermia were enrolled. Chromosome karyotype analysis was performed on peripheral blood lymphocytes with G-banding. Y chromosome microdeletions were detected by multiplex polymerase chain reactionPCR combined with agarose gel electrophoresis. Results There were 14 cases of abnormal chromosome karyotypes and 16 cases of Y chromosome microdeletions in 150 patients with azoospermia or severe oligozoospermia and the abnormal rates were 9.3% and 10.7% respectively. Conclusions For patients with azoospermia or severe oligozoospermia the chromosome karyotype analysis and Y chromosome microdeletion determinations could provide genetic screening reference before performing ICSI treatments avoiding the genetic deficiency being passed to offspring and reducing the patients' mental and economic burdens.

Key words: Chromosome, Karyotype, Y chromosome microdeletion, Azoospermia, Severe oligozoospermia

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