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Y染色体及其微缺失的临床意义

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摘要 Y染色体AZF基因微缺失与男性不育密切相关,其是引起男性不育的一个重要遗传学原因。Y染色体微缺失的诊断,对于辅助生殖技术选择生育女婴提供遗传学依据,同时找到不育的真正原因,从而避免不必要的药物及手术治疗,具有重要的临床意义。
作者 慕明涛 霍满鹏 蒲力群 张静 刘俊俊
机构地区 延安大学医学院医学遗传学与细胞生物学教研室
出处 《中国优生与遗传杂志》 2012年第7期10-11,33,共3页 Chinese Journal of Birth Health & Heredity
关键词 Y染色体 AZF基因微缺失 男性不育
分类号 R698.2 [医药卫生—泌尿科学]
  • 相关文献

参考文献22

  • 1Sibille I. Y - STR DNA amplification as biological evidence in sexual- ly assaulted female victims with no cytological detection of spermato- zoa [ J ]. Forensic Sci Int,2002,125 : 212 - 216.
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  • 5Honda K, Roewer L, De - Knijff P. Male DNA typing from 25 - year - old vaginal swabs using Y chromosomal STR polymorphisms in a re- trial request case [ J ]. J Forensic Sci, 1999,44 (4) : 868 - 872.
  • 6慕明涛,霍满鹏,蒲力群,刘俊俊,张静,刘燕,王逢会.延安地区大Y染色体与临床疾病关系的细胞遗传学分析[J].中国优生与遗传杂志,2007,15(11):53-54. 被引量：6
  • 7Kent - First M, Muallem A, Shuhz J, et al. Defining regions of the Y chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y chromosome microdeletion detection [ J]. Mol Reprod Dev, 1999,53 ( 1 ) : 27 -41.
  • 8Tiepolo L, Zuffardi O. Location of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chomosome long ann [ J]. Hum Genet, 1976,34: 119 - 124.
  • 9Vogt PH, Edelmann A, Kirseh S, et al. Human Y chromosome azoospermia factors(AZF) mapped to different subregions in Yqll [ J ]. Hum Mol Genet, 1996,5 (7) : 933 - 943.
  • 10Foresta C. Y chromosome microdeletions and alterations of spermato- genesis [ J ]. Endocr Rev,2001,22 (2) : 226 - 239.

二级参考文献39

  • 1汪松延.人类Y染色体[J].临床儿科杂志,1984,2(2):142-142.
  • 2Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm[J]. Hum Genet, 1976,34 (2) : 119-124.
  • 3Vogt PH, Edelmann A, Kirsch S, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11[J]. Hum Mol Genet, 1996,5(7):933-943.
  • 4Kent-First M, Muallem A, Shultz J, et al. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection[J]. Mol Reprod Dev, 1999,53 (1):27-41.
  • 5Vogt PH. Molecular genetic of human male infertility: from genes to new therapeutic perspectives[J]. Curr Pharm Des,2004,10(5) :471-500.
  • 6Foresta C. Y chromosome microdeletions and alterations of spermatogenesis[J]. Endocr Rev, 2001,22(2) :226-239.
  • 7Mazeyrat S, Saut N, Sargent CA, et al. The mouse Y chromosome interval necessary for spermatogonial proliferation is gene dense with syntenic homology to the human AZFa region [J]. Hum Mol Genet, 1998,7(11) :1713-1724.
  • 8Sargent CA, Boucher CA, Kirsch S, et al. The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences[J]. J Med Genet, 1999,36(9) :670-677.
  • 9Lee J, Hong J, Kim E, et al. Developmental stage-specific expression of Rbm suggests its involvement in early phases of spermatogenesis[J]. Mol Hum Reprod, 2004, 10 (4): 259-264.
  • 10Elliott DJ, Oghene K, Makarov G, et al. Dynamic changes in the subnuclear organisation of pre-mRNA splicing proteins and RBM during human germ cell development[J]. J Cell Sci, 1998,111 (9): 1255-1265.

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中国优生与遗传杂志
2012年 第7期

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