期刊文献+

类DNA甲基转移酶蛋白3(DNMT3L)基因SNP rs2070565多态性与少精症的相关性 被引量:1

Association of Polymorphism of SNP rs2070565 in DNA Methyl-transferase 3-like Protein (DNMT3L) Gene with Oligospermia
原文传递
导出
摘要 目的:研究类DNA甲基转移酶蛋白3(DNMT3L)基因rs2070565多态性与少精症的相关性。方法:应用PCR-RFLP分析方法,在198名少精症患者(少精症组)和249名正常的男性个体(正常对照组)中,对DNMT3L基因rs2070565位点的基因频率和基因型频率分布进行调查。结果:在少精症和正常男性中rs2070565位点的等位基因频率分布存在差异,少精症组中等位基因A的频率显著高于正常对照组(20.7%vs 14.9%,P=0.03)。结论:DNMT3L基因rs2070565位点的多态性与少精症相关,等位基因A可能增加少精症的易感性。 Objective: To study the association of polymorphism of SNP rs2070565 in DNA methyl-transferase 3-like protein(DNMT3L) gene with oligospermia.Methods: The allele and genotype frequencies of rs2070565 locus in DNMT3L gene was investigated in 198 patients with oligospermia group and 249 normal men in normal control group using polymerase chain reaction and fragment length polymorphism analysis(PCR-RFLP).Results: There was a significant difference in allele distribution at rs2070565 locus.The frequency of allele A of s2070565 was significantly higher in oligospermia group than in the control(20.7% vs 14.9%,P=0.03).Conclusion: The polymorphism of SNP rs2070565 in DNMT3L is associated with oligospermia and the allele A of rs2070565 may increase the risk of oligospermia.
出处 《生殖与避孕》 CAS CSCD 北大核心 2011年第9期613-616,共4页 Reproduction and Contraception
基金 国家自然科学基金项目(编号:30770809)
关键词 类DNA甲基转移酶蛋白3(DNMT3L)基因 多态性 少精症 DNMT3L gene polymorphism oligospermia
  • 相关文献

参考文献16

  • 1Maduro MR, Lamb DJ. Understanding new genetics of male infertility. J Urol, 2002, 168(5):2197-205.
  • 2Marchal R, Chicheportiche A, Dutrillaux B, et al. DNA methylation in mouse gametogenesis. Cytogenet Genome Res, 2004, 105(2-4):316-24.
  • 3Hartmann S, Bergmann M, Bohle RM, et al. Genetic imprinting during impaired spermatogenesis. Mol Hum Reprod, 2006, 12(6):407-11.
  • 4Ooi SKT, Qiu C, Bernstein E, et al. DNMT3L connects unmethylated lysine 4 of histone H3 to de novo methy- lation of DNA. Nature, 2007, 448(7154):714-7.
  • 5Webster KE, O'Bryan MK, Fletcher S, et al. Meiotic and L epigenetic defects in Dnmt3L- knockout mouse spermatogenesis. Proc Natl Acad Sci USA, 2005, 102 (11):4068-73.
  • 6丁显平,谢婷婷,魏霞,刘思遥,陶建蜀.精子发生障碍患者Y染色体微缺失分子诊断[J].生殖与避孕,2006,26(3):184-188. 被引量:9
  • 7Rodriguez S, Gaunt TR, Day IN. Hardy-weinberg equilib- rium testing of biological ascertainment for mendelian randomization studies. Am J Epidemiol, 2009, 169(4): 505-14.
  • 8Rodriguez-Osorio N, Wang H, Rupinski J, et al. Comparative functional genomics of mammalian DNA methyl- transferases. Reprod Biomed Online, 2010, 20(2):243-55.
  • 9Takashima S, Takehashi M, Lee J, et al. Abnormal DNA methyltransferase expression in mouse germline stem cells results in spermatogenic defects. Biol Reprod, 2009, 81(1):155-64.
  • 10Kaneda M, Okano M, Hata K, et al. Essential role for de novo DNA methyltransferase Dnmt3a in paternal and maternal imprinting. Nature, 2004, 429(6994):900-3.

二级参考文献10

  • 1丁显平,钟影,魏霞,吴东,谢婷婷,李建平.成都地区男性原发性无精症患者Y染色体AZF区域微缺失基因诊断的研究[J].国外医学(临床生物化学与检验学分册),2005,26(8):498-499. 被引量:7
  • 2Tiepolo L & Zuffardi O.Localization of factors controlling spermatogenesis in the nonfluoreseent portion of the human Y chromosome long arm.Hum Genet,1976,34(2):119-24.
  • 3Simoni M,Bakker E,Eurlings MCM,et al.Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions.Int J of Androl,1999,22:292-9.
  • 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.Mol Reprod Dev,1999,53(1):27-41.
  • 5van der Ven K,Montag M,Peschka B,et al.Combined cytogenetic and Y chromosome microdeletion screening in males sudergoing intracytoplasmic sperm injection.Mol Hum Reprod,1997,3(8):699-704.
  • 6Foresta C,Moro E,Garolla A,et al.High frequency of welldefind Y-chromosome deletions in idiopathic Sertoli cellonly syndrome.Hum Reprod,1998,13(2):302-7.
  • 7Vogt PH.Human chromosome deletions in Yql 1,AZF candidate genes and male infertility:history and update.Mol Hum Reprod,1998,4(8):739-44.
  • 8Simoni M,Kamischke A & Nieschlag E.Current status of the molecular diagnosis of Y-chromosomal microdeletions in the work-up of male infertility.Initiative for international quality control.Hum Reprod,1998,13(7):1 764-8.
  • 9Briton-Jones C & Haines CJ.Microdeletions on the long arm of the Y chromosome and their association with malefactor infertility.Hong Kong Med J,2000,6(2):184-9.
  • 10杨元,张思仲,彭黎明,丁显平,林立,王军.中国人原发无精与严重少精症Y染色体AZF区域微缺失的分子流行病学研究[J].中华医学遗传学杂志,2003,20(5):385-389. 被引量:56

共引文献8

同被引文献14

引证文献1

二级引证文献8

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