期刊文献+

无精症、少精症患者中AZF缺失的检测 被引量:5

Research on the AZF Deletion in Patient with Azoospermia and Oligospermia
暂未订购
导出
摘要 目的:探讨AZF缺失与男性无精症、少精症之间的关系。方法:采用多重PCR方法,对84例汉族无精症和少精症患者的AZF区4个STS位点:AZFa亚区的sY86、AZFb亚区的sY127、AZFc亚区的sY254和sY255进行了缺失检测。用PCR-SSCP方法对其中的48例作了sY254点突变检测。并对DAZ基因在人不同组织的表达进行了研究。结果:3例无精症患者同时具有位于AZFc亚区中DAZ基因的sY254和sY255位点缺失。48例患者未见sY254有点突变。只在睾丸组织中检测到DAZ基因的表达。结论:部分汉族无精症患者可能与AZFc的缺失有关。 Objective:To investigate the relationship between the deletion of AZF and azoospermia or oligosper-mia. Methods :Multiplex PCR were use to detect the deletions of 4 STSs located in the AZF region, namely sY86 in AZFa, sY127 in AZFb, sY254 and sY255 in AZFc,. PCR-SSCP was used to check the sY254 point mutations among eighty-four Han Chinese patients with azoospermia or oligospermia. The expression pattern of DAZ gene in different tissues was studied using RT-PCR method. Results:The concurrent deletions of sY254 and sY255 in AZFc subregion were found in three azoospermia patient. The sY254 point mutations were not found in the 48 patients who were studied,the other 36 patients were not studed. DAZ gene only expressed in the testis tissue. Conclusion: The deletions of AZFc may be associated with some Han Chinese azoospermia.
出处 《生殖与避孕》 CAS CSCD 北大核心 2002年第6期342-345,T004,共5页 Reproduction and Contraception
基金 宁波市农业与社会发展计划项目(编号:01N40108-2)
关键词 无精症因子 AZF 无精症缺失 DAZ 缺失 无精症 少精症 AZF, DAZ, deletion, azoospermia, oligospermia
  • 相关文献

参考文献11

  • 1Kleiman SE, Yogev L, Gamzu R, Hauser R, Botchan A, Lessing JB, Paz G & Yavetz H. Genetic evaluation of infertile men. Hum Reprod, 1999,14:33.
  • 2Kent-First M. The Y chromosome and its role in testis differentiation and spermatogenesis. Semin Reprod Med, 2000,18: 67.
  • 3de Kretser DM & Baker HWG. Infertility in men:recent advances and continuing controversies. J Clin Endocrinol Metab, 1999,84;3 443.
  • 4Simoni M, Baker E, Eurlings MC, Matthijs G, Moro E, Muller CR &. Vogt PH. Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions.Int J Androl, 1999,22:292.
  • 5Tiepolo L & Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet,1976,34:119.
  • 6Pryor JL, Kent-First M, Muallem A, Van Bergen AH, Nolten WE, Meisner L & Roberts KP. Prospective analysis of Y chromosome microdeletions in 200consecutive male infertility patients. N Engl J Med,1997,336:534.
  • 7Simoni M, Gromoll J, Dworniczak B, Rolf C, Abshagen K, Kamischke A, Carani C, Meschede D, Behre HM, Horst J &. Nieschlag E. Screening for deletions of the Y chromosome involving the DAZ gene in azzospermia and severe oligospermia. Fertil Steril,1997,67:542.
  • 8Reijo R, Lee TY, Salo P, Subbarao MN, Bhasin D,Banaag L, Naseeruddins, de Kretser DM, Baker HW &. McLachlan RI. Diverse spermatogenic defects in humans caused by Y-chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet, 1995,10:383.
  • 9Najmabadi H, Huang Y, Yen P, Subbarao MN,Bhasin D, Banaag L, Naseeruddin S, de Kretser DM,Baker HW & McLachlan RI. Substantial prevalence of microdeletions in infertile men with idiopatuic azzospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy. J Clin Endocrinol Metab, 1996,8:1347.
  • 10Stuppia L, Calabrese G, Franchi PG, Mingarelli R,Gatta V, Palka G &. Dallapiccola B. Widening of a Ychromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ gene.Am J Hum Genet, 1996,59:1393.

同被引文献29

  • 1Lawrence C. Layman.Genes Causing Male Infertility in Humans[J].Journal of Reproduction and Contraception,2002,13(4):193-213. 被引量:2
  • 2.[EB/OL].http ://www. Devicelink. com/ivdt/archive/99/11/008, html,.
  • 3Sargent CA, et al. The critical region of ovrlap defining the AZFa male infertility interval of proximal contains three transcribed sequences[J] .J Med Genet. 1999,36:670 - 677.
  • 4Foresta C. Ferlin A, Moro E. Delection and expression analysis of AZFa genes on lhe human Y chromosome reveales a major role for DBY in male infertility[J]. Hummol Genet,2002.9:1161-1169.
  • 5Kent-First M. The Y chromosome and its role in testis differentlon and spermatogenesis[J].Semin Reprod Med, 2000.18 : 67.
  • 6Tiepolo L, Zuffardi O. Location of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm [J]. Hum Genet, 1976.34:119 - 24.
  • 7Reijo R, Lee TY, Salo P. Diverse spermatogenic defects in humans caused by Y chromsome deletions encompassing a novel RNA - binding protein gene[J]. Zature Genet. 1995.10:383.
  • 8Vogol PH,Edelmann A. Kirsch S. Human Y chromosome azoospermia factor (AZF) mapped to different subregions in Yqll [J]. Hum Mol Genet,1996,5:933.
  • 9Kern-First M,Muallem A.Shultz J,et al.Defining regions of the Y chromosome responsible for male nfenilitv and indentification of a fourth AZF region (AZFd) by Y chromosome microdeletion detection[J]. Mol Reprod Dev. 1999.53:27 - 41.
  • 10Proyor JL.Kent- First M. Muallem A. Van Bergen AH. Noher WE. Meisher L, Roberts KP. Prospective analysis of Y chromosome microdeletions in 200 consecutive male infertility patients[J]. N Engl J Meal, 1997. 336:534.

引证文献5

二级引证文献10

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部