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Y染色体微缺失影响男性不育的研究进展 被引量：6

Research progress of Y chromosome microdeletion and male infertility
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摘要 近年的研究热点显示Y染色体遗传缺陷因素所致的男性生精障碍是不育的重要病因之一。人类基因组的成功测序认为Y染色体的同源性重组是微缺失的分子基础。现研究主要在AZF基因。现研究发现在Y染色体上的220个基因中,无精子症或少精子症患者位于Y染色体的长臂(Yq11)无精子因子(AZF)区的16个编码基因有缺失,是已知的导致男性不育的最主要的分子遗传病因。临床上常使用提纯周围血白细胞DNA加Y染色体特异性引物进行PCR扩增检测,为明确Y染色体基因的功能以及相互之间的联系及基因治疗奠定基础。 Recent researches have showed that male spermatogenic failure caused by the genetic defect of Y chromosome is one of the major causes of male infertility. The successful sequencing of Y chromosome uncovers that homologous recombinant is the molecular base of its microdeletion. The current researches focus mainly on the AZF genes. According to such researches, 16 coding genes located at AZF in the Y chromosomal long arm （ Yql 1 ） of all the 220 genes of Y chromosome are missing for patients with azoospermatism and oligospermatism, which has been demonstrated to be a main genetic disorder causing male infertility. PCR amplification test is often used with WBC DNA and Y chromosome specific primers to define the function of Y chromosome genes and their mutual relationships, laying the foundation of spermatogenesis.
作者 仕治达 陶国振 孙林 王磊光 邱毅
机构地区 山东省计划生育科学技术研究所(国家卫生和计划生育委员会生育调控技术重点实验室)
出处 《中国性科学》 2014年第7期75-78,共4页 Chinese Journal of Human Sexuality
关键词 Y染色体缺失 男性不育 无精子因子 Y chromosome microdeletion Male infertility Azoospermia factor
分类号 R698.2 [医药卫生—泌尿科学]
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  • 1蔡志明,肖晓素,刘晓翌,王勇强.无精症、严重少精症患者Y染色体无精子因子微缺失的遗传学研究[J].中华医学遗传学杂志,2005,22(1):85-87. 被引量：16
  • 2朱晓斌,李铮,郭安亮,曹小蓉,刘勇,龚东明,王益鑫.Y染色体微缺失父子间垂直遗传分析[J].中华医学遗传学杂志,2007,24(2):203-205. 被引量：20
  • 3Saxena R,de Vries J W,Repping S,Alagappan R K,Skaletsky H,Brown L G,Ma P,Chen E,Hoovers J M,Page D C.Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome.Genomics,2000,67(3):256～267.
  • 4Reijo R,Lee T Y,Salo P,Alagappan R,Brown L G,Rosenberg M,Rozen S,Jaffe T,Straus D,Hovatta O.Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene.Nat Genet,1995,10(4):383～393.
  • 5Ferlin A,Moro E,Rossi A,Foresta C.A novel approach for the analysis of DAZ gene copy number in severely idiopathic infertile men.J Endocrinol Invest,2002,25(1):RC1～3.
  • 6Fernandes S,Huellen K,Goncalves J,Dukal H,Zeisler J,Rajpert De Meyts E,Skakkebaek N E,Habermann B,Krause W,Sousa M,Barros A,Vogt P H.High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia.Mol Hum Reprod,2002,8(3):286～298.
  • 7Simoni M,Bakker E,Eurlings M C,Matthijs G,Moro E,Muller C R,Voget P H.Laboratory guidelines for molecular diagnosis of Y-chromosomal microdeletions.Int J Androl,1999,22(5):292～299.
  • 8Simoni M,Bakker E,Krausz C.EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions.State of the art 2004.Int J Androl,2004,27(4):240～249.
  • 9Maduro M R,Lamb D J.Understanding new genetics of male infertility.J Urol,2002,168(5):2197～2205.
  • 10Repping S,Skaletsky H,Brown L,van Daalen,S K,Korver C M,Pyntikova T,Kuroda-Kawaguchi T,de Vries J W,Oates R D,Silber S,van der Veen F,Page D C,Rozen S.Polymorphism for a 1.6 Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection.Nat Genet,2003,35(3):247～251.

共引文献47

同被引文献52

  • 1徐洪丽,伍学焱.男性低促性腺激素性性腺功能减退症替代治疗[J].中国实用内科杂志,2013,33(7):513-515. 被引量：5
  • 2陈爱萍,陈勇,王会品,陈维红,陈浩,陈丽娴,孙宏钰.中国人群Amelogenin基因的突变频率和突变类型[J].中华医学遗传学杂志,2007,24(6):615-619. 被引量：23
  • 3谷翊群.世界卫生组织人类精液检查与处理实验室手册[M].第5版.北京:人民卫生出版社,2011:52-54.
  • 4Fernandez JL,Muriel L,Goyanes ~,et al. Simpledetermi- nation of human sperm DNA fragementation with an im- proved sperm chromatin dispersion (SCD) test [J]. Fertil Steril, 2005,84(4) : 833-842.
  • 5Guzick DS, Overstreet JW, Factor-Litvak P, et al. Sperm morphology,motility, and concentration in fertile and in- fertile men[J]. N Engl J Med, 2001,345 (19) : 1388-1393.
  • 6Shamsi MB,Imam SN,Dada R. Sperm DNA integrity as- says:diagnostic and prognostic challenges and implica- tions in management of infertility[J]. J Assist Reprod Genet, 2011,28 ( 11 ) : 1073-1085.
  • 7Wransby ML,Sten-Linder M,Bremme K,et al. Primary habitual abortions are associated with high frequency of factor V Leiden mutation[J]. Fertil Steril,2000,74(5):987- 991.
  • 8Venkatesh S, Singh A, Sharnsi MB,et al. Clinical signifi- cance of sperm DNA damage threshold value in the as- sessment of male infertility[J]. Reprod Sci, 2011, 18 (10): 1005-1013.
  • 9Evenson DP, Larson KL,Jost LK. Sperm chromatin struc- ture assay:Its clinical use for detecting sperm DNA frag- mentation in male infertility and comparisons with other techniques[J]. J Androl, 2002,23 ( 1 ) : 25-43.
  • 10CarreU DT,Liu L,Peterson CM. Sperm DNA fragmenta- tion is increased in couples with unexplained recurrent pregnancy loss[J]. Arch Androl,2003,49( 1 ) :49-55.

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中国性科学
2014年 第7期

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