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人类Y染色体微缺失与精子生成障碍的研究进展 被引量：11

Advance in the Research of the Human Y Chromosome Microdeletion and Spermatogenic Failure
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摘要 现就人类Y染色体的结构及其与精子生成相关的主要功能基因的研究进展作一评述,重点对AZF区的USP9Y、RBM、DAZ、CDY等基因的缺失与精子生成障碍的关系进行了探讨。为临床对无精症患者的诊断及遗传咨询提供理论依据。 The article expounds the structure of the human Y chromosome and it＇ s main functional gene that correlates with spermatogenesis, chiefly discuss the deletion of each gene in AZF region such as USP9Y, RBM, DAZ, CDY with spermatogenic failure. These findings provide a theoretical basis for clinical diagnosis of azoospermic patients and genetic consultation.
作者 贾咏存 魏莎莉
机构地区 重庆医科大学公共卫生学院
出处 《国际遗传学杂志》 CAS 2006年第4期273-276,共4页 International Journal of Genetics
关键词 Y染色体 AZF区 微缺失 精子生成障碍 Y chromosome AZF region Microdeletion Spermatogenic failure
分类号 R698.2 [医药卫生—泌尿科学]
  • 相关文献

参考文献15

  • 1Skaletsky M, Kuroda-Kawaguchi T, Patrick JM, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature, 2003,10:825 - 837.
  • 2朱运良,伍新尧.Y染色体MSY区域内DNA分子重组[J].国外医学（遗传学分册）,2004,27(5):276-278. 被引量：7
  • 3Vogt PH, Edelmann A, Kirsch S, et al. Human Y chromosome azoospermia factors(AZF) mapped to different subregions in Yq11.Hum Mol Genet, 1996,7:933 -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 detecting.Mol Reprod Dev, 1999,53:27 - 41.
  • 5Brown GM, Furlong RA, Sargent CA, et al. Characterization of the coding sequence and fine mapping of the human DFFRY gene and comparative espression analysis and mapping to the SxvB interval of the mouse Y chromosome of the Dffry gene. Hum Mol Genet, 1998,7:97 - 107.
  • 6Foresta G, Moro E, Rossi A, et al. Role of the AZFa candidate genes in male infertility. J Endocrinao Invest,2000,23:646-651.
  • 7Elliott DJ, Millar MR, Oghene K, et al. Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc Natl Acad Sci U S A, 1997,94:3848 -3853.
  • 8Kuroda-Kawaguchi T, Skaletsky H, Brown LG, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet, 2001,29:279-256.
  • 9Ferlin A, Moro E, Rossi A, et al. A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men. J Endocrinol Invest, 2002,25 : 1 - 3.
  • 10Slee R, Grimes B, Speed RM, et al. A human DAZ transgene confers partial rescue of the mouse DAZL null phenotype. Proc Natl Acad Sci U S A, 1999,96:8040 -8045.

二级参考文献25

  • 1Kamp C, Hirschmann P, Voss H, et al. Two long homologous retroviral sequence blocks in proximal Yq1 1 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet, 2000, 9: 2563-2572.
  • 2Schwartz A, Chan DC, Brown LG, et al. Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination. Hum Mol Genet, 1998, 7: 1.
  • 3Pecon-Slattery J, Sanner-Wachter L, O'Brien SJ. Novel gene conversion between X-Y homologues located in the nonrecombining region of the Y chromosome in Felidae (Mammalia). Proc Natl Acad Sci USA, 2000, 97: 5307-5712.
  • 4Agulnik AI, Zharkikh A, Boettger-Tong H, et al. Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations. Hum Mol Genet, 1998, 7: 1371-1377
  • 5Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature, 2003, 423: 825-837.
  • 6Sun C, Skaletsky H, Rozen S, et al. Deletion of azoospermia factor a (AZFa) region of human Y chromosoma caused by recombination between HERV15 proviruses. Hum Mol Genet, 2000, 9: 2291-2296.
  • 7Repping S, Skaletsky H, Lange J, et al. Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J hum Genet, 2002,71: 906-922.
  • 8Ferlin A, Moro E, Rossi A, et al. The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet, 2003, 40: 18-24.
  • 9Kuroda-Kawaguchi T, Skaletsky H, Brown LG, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet,2001, 29: 279-286.
  • 10Casanova M, Leroy P, Boucekkine C, et al. A human Y-linked DNA polymorphismand its potential for estimating genetic and evolutionary distance. Science, 1985, 230: 1403-1406.

共引文献6

同被引文献111

引证文献11

二级引证文献69

国际遗传学杂志
2006年 第4期

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