中国医科大学学报

中国医科大学学报

中国医科大学学报 ›› 2010, Vol. 39 ›› Issue (1): 37–.

• 临床医学 • 上一篇    下一篇

精子发生障碍患者Y染色体微缺失的检测

孔琳; 潘伯臣; 杜强; 杨大磊   

  1. 中国医科大学附属盛京医院妇产科生殖中心
  • 出版日期:2010-01-20 发布日期:2013-06-07
  • 通讯作者: 潘伯臣 E-mail:panpancmu@yahoo.com.cn

Detection of Y Chromosomal Microdeletions in Patients with Spermatogenic Failure

  • Online:2010-01-20 Published:2013-06-07

摘要:

目的探讨Y染色体微缺失与精子发生障碍患者染色体核型、临床表型、性激素水平等因素的关系。方法采用多重PCR技术检测42例非梗阻性无精子症及39例严重少精子症患者的SRY基因、ZFY基因及AZFa、AZFb和AZFc3个区域的6个序列标签位点。结果81例非梗阻性无精子症及严重少精子症患者中发现了10例微缺失,发生率12.35%,其中非梗阻性无精子症患者6例,严重少精子症患者4例;10例微缺失患者中,1例为AZFa+AZFb+AZFc区缺失,2例为AZFb+AZFc区缺失,1例为AZFb区缺失,6例为AZFc区缺失。结论Y染色体长臂微缺失与精子发生障碍相关,有必要对非梗阻性无精子症及严重少精子症患者进行Y染色体微缺失检测。

关键词: 男性不育, 无精子因子, Y染色体微缺失, 多重聚合酶链反应, 无精子症, 严重少精子症

Abstract:

Objective To explore the relationship between Y chromosomal
      microdeletions and chromosome karyotype,clinical phenotypes and sex
      hormone levels in patients with spermatogenic failure. Methods SRY
      gene,ZFY gene and 6 sequence-tagged-sites in AZFa,AZFb and AZFc were
      detected with multiplex polymerase chain reaction in 42 non-obstructive
      azoospermic and 39 severe oligozoospermic men. Results Ten cases(12.35%)of
      microdeletions were found in 81 non-obstructive azoospermic(6 cases)or
      severe oligozoospermic patients (4 cases). Among the 10 patients with Y
      chromosomal microdeletions,1 had deletion of AZFa+AZFb+AZFc,2 AZFb+AZFc,1
      AZFb and 6 AZFc. Conclusion Microdeletions in the long arm of Y chromosome
      were associated with spermatogenic failure. Screening for Y chromosomal
      microdeletions in azoospermic or severe oligozoospermic patients should be
      of necessity and significance.

Key words: male infertility, azoospermia factor, Y chromosomal microdeletions, multiplex PCR, azoospermia, severe oligozoospermi

[1] 白双勇,王剑松,赵庆华. 肥胖男性不育患者精子线粒体膜电位、游离脂肪酸、活性氧的关系[J]. 中国医科大学学报, 2015, 44(7): 653-656.
[2] 王欢,孙发,邢俊平,丁上书,孙超,王新阳,邹铁军,唐开发. 谷胱甘肽S 转移酶基因多态性与特发性男性不育精子DNA完整性相关性的研究[J]. 中国医科大学学报, 2015, 44(12): 1075-1078.
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