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脆性X综合征的诊断方法 被引量:1

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摘要 脆性X综合征[Fra(x) syndrome]是遗传性智力低下常见原因之一,国外报道患病率为1/2000,占智力低下人群的0.5%~10%,仅次于Down's综合征。男性发病率约为1/1500,女性约为1/2500。
出处 《医学综述》 1999年第12期537-539,共3页 Medical Recapitulate
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参考文献3

  • 1丁秀原,陈虹.脆性X综合征基因诊断与优生[J].中国优生优育(1990-2002上半年),1998,9(3):120-123. 被引量:1
  • 2吴元清.-[J].中华医学遗传学杂志,1994,11(3):153-153.
  • 3田乔泽.-[J].国外医学:遗传学分册,1996,19(3):220-220.

二级参考文献5

  • 1Davies K,Breaking the fragile X Human genetics,1991,351:439.
  • 2Verkerk AJMH,Pieretti M,Sutcliffe JS,et al.Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.Cell,1991,65:905.
  • 3Kremer EJ,Pritchard M,Lynch M et al.Mapping of DNA instability at the fragile X to trinucleotide repeat sequrnce P (CCG)n,Science,1991,252:1711.
  • 4FU YH,Kuhl DPA,Pizzuti A,et al.Variation of the CGG repeat at the fragile X Site results in genetic instability resolution of the sherman paradox.Cell,1991,67:1047.
  • 5Rousseau F,Heitz D,Biancalana V,et al.On some technical aspects of direct DNA diagnosis of the fragile X syndrome.Am J Med Genet,1992,43:197.

同被引文献9

  • 1李长民,刘巍,谭文华.家族遗传性疾病-脆性X综合征的筛查及产前诊断[J].中国优生与遗传杂志,2007,15(5):53-54. 被引量:3
  • 2Jin P,Warren ST. Understanding the molecular basis of fragile X syndrome[J].Human Molecular Genetics,2000,(06):901-908.
  • 3Willemsen R,Mohkamsing S,De Vries B. Rapid antibody test for fragile X syndrome[J].Lancet,1995,(8958):1147-1148.
  • 4Willemsen R,Smits A,Mohkamsing S. Rapid antibody test for diagnosing fragile X syndrome:a validation of the technique[J].Human Genetics,1997,(03):308-311.
  • 5Tassone F,Hagerman RJ,Ikle Dn. FMRP expression as a potential prognostic indicator in fragile X syndrome[J].American Journal of Medical Genetics,1999,(03):250.
  • 6Romero-Espinoza P,Rosales-Reynoso MA,Willemsen R. FMR1 protein expression in blood smears for fragile X syndrome diagnosis in a Mexican population sample[J].Genet Test Mol Biomarkers,2010,(04):511-514.
  • 7Ravindran MS,Patel ZM,Adhia RA. Validity of analysis of FMRP expression in blood smears as a screening test for Fragile X Syndrome in the Indian population[J].Journal of Clinical Laboratory Analysis,2005,(03):120-123.doi:10.1002/jcla.20066.
  • 8富显果,张朵,兰风华.脆性X综合征实验室诊断研究进展[J].福建医科大学学报,2008,42(4):384-386. 被引量:1
  • 9徐学刚,刘睿智.脆性X综合征及其实验室检测研究进展[J].中国妇幼保健,2008,23(35):5083-5086. 被引量:1

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