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应用PCR快速筛查脆性X综合征患儿 被引量：3

Rapid screening for fragile X syndrome by PCR
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摘要 目的应用PCR快速筛查脆性X综合征患儿。方法采用PCR和聚丙烯酰胺凝胶电泳技术,对24例不明原因智力低下患儿的脆性X基因(CGG)n重复序列进行检测。结果在24例不明原因智力低下患儿中,筛查出1例脆性X综合征患者。结沦采用PCR技术扩增脆性X基因的(CGG)n重复序列,可对脆性X综合征患者进行快速筛查。 Objective：To screen fragile X syndrome by a rapid PCR method.Methods：The CGG repeat region in the FMR1 gene was amplified by PCR and was detected by PAGE in 24 children with unexplained mental retardation.Results：1 patient with fragile X syndrome was detected from 24 children with mental retardation.Conclusion：This PCR protocol is simple,rapid and low cost,and can be applied for screening for fragile X syndrome.
作者 杨丹彤 贾颐舫 吴爱华 张爱东
机构地区 山东省计划生育科学技术研究所
出处 《中国优生与遗传杂志》 2010年第11期29-30,共2页 Chinese Journal of Birth Health & Heredity
基金 山东省科技攻关项目(项目编号003130135)
关键词 脆性X综合征 聚合酶链反应 筛查 Fragile X syndrome PCR Screening
分类号 R714.5 [医药卫生—妇产科学]
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  • 1Kenneson A, Zhang F, Hagedorn CH, et al.Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers[J].Hum Mol Genet, 2001,10(14):1449-1454.
  • 2Bardoni B, Mandel JL.Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes[J].Curr Opin Genet Dev,2002,12(3):284-293.
  • 3Kaufmann WE, Cohen S, Sun HT, Ho G.Molecular phenotype of Fragile X syndrome: FMRP, FXRPs, and protein targets[J].Microsc Res Tech, 2002,57(3):135-44.
  • 4Stefani G, Fraser CE, Darnell JC, et al.Fragile X mental retardation protein is associated with translating polyribosomes in neuronal cells[J].J Neurosci,2004,24(33):9272-9276.
  • 5Tarleton J, Kenneson A, Taylor AK, et al.A single base alteration in the CGG repeat region of FMR1: possible effects on gene expression and phenotype[J].J Med Genet,2002,39(3):196-200.
  • 6Welt CK, Smith PC, Taylor AE. Evidence of early ovarian aging in fragile x premutation carriers[J].J Clin Endocrinol Metab,2004,89(9):4569-4574.
  • 7Hagerman RJ, Leavitt BR, Farzin F, et al.Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation[J].Am J Hum Genet,2004,(5):1051-1056.
  • 8Lombroso PJ.enetics of childhood disorders: XLVIII. Learning and memory, Part 1: Fragile X syndrome update[J].J Am Acad Child Adolesc Psychiatry,2003,42(3):372-375.
  • 9Zhong N, Ju W, Xu W, et al.Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians[J].Am J Med Genet,1999,84(3):191-194.
  • 10Toledano-Alhadef H, Basel-Vanagaite L, Magal N, et al.Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel[J].Am J Hum Genet,2001,69(2):351-360.

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中国优生与遗传杂志
2010年 第11期

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