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脆性X综合征 被引量:5

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摘要 脆性X综合征(FraX)是最常见的遗传性智力低下综合征。其发病机理是由于X染色体上FMR1基因三核苷酸重复序列(CGG)n动态突变引起。携带前突变的母亲在传递给子代时,(CGG)n大多扩展为全突变,子代发病机会增加。目前FraX的诊断主要依靠分子生物学技术,对于前突变携带者的母亲建议进行产前诊断。
作者 李东至 廖灿
机构地区 广州市妇婴医院
出处 《中国优生与遗传杂志》 2005年第5期121-123,共3页 Chinese Journal of Birth Health & Heredity
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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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