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脆性X综合征实验室诊断研究进展 被引量:1

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出处 《福建医科大学学报》 2008年第4期384-386,共3页 Journal of Fujian Medical University
基金 南京军区医药卫生"十一五"科研基金资助项目(06MA136)
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参考文献20

  • 1Wattendorf D J, Muenke M. Diagnosis and management of fragile Ⅹ syndrome[J]. American Family Physician, 2005, 72:111-113.
  • 2Willemsen R, Smits A, Severijnen L A,et al. Predictive testing for cognitive functioning in female carriers of the fragile Ⅹ syndrome using hair root analysis[J].J Med Genet, 2003, 40 : 377-379.
  • 3Verkerk A J,Pieretti M,Sutcliffe J S,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[J].Cell, 1991,65(5):905-914.
  • 4ACOG Committee On Genetics. Screening for fragile Ⅹ syndrome[J].Obstet Gynecol, 2006,107:1483-1485.
  • 5James M, Hilary S. Practice guidelines for molecular diagnosis of Fragile Ⅹ syndrome[EB/OL]. ( 2005-2-21 )/ ( 2007-11-23). http://cmgsweb, shared, hosting, zen. co. uk/BPGs/pdfs%20Dec%2007/Fragile%20X. pdf.
  • 6Rousseau F, Heltz D,Biancalana V,et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation[J]. N Eng J Med, 1991,325(24):1673-1681.
  • 7Fu Y H,Huhl D P,Pizzuti A,et al. Variation of the CGG repeat at the fragile Ⅹ site results in genetic instability:resolution of the Sherman paradox[J]. Cell, 1991, 67 (6): 1047-1058.
  • 8Larsen L A, Gronskov K, Norgaars-Pedersen B, et al. High-throughout analysis of fragile Ⅹ(CGG)n alleles in the normal and premutation range by PCR amplification and automated capillary electrophoresis [J]. Hum Genent, 1997, 100:564-568.
  • 9CD O'Connell, Atha D H, Hakupciak J P, et al. Standardization of PCR amplification for fragile X trinucleotide repeat measurements[J]. Clin Genet, 2002,61:13-20.
  • 10Clark S J, Harrison J, Paul C L, Frommer M. High sensitivity mapping of methylated cytosines [J]. Nucleic Acids Res,1994,22 : 2900-2907.

二级参考文献16

  • 1王晓云,吴海,张丰德,岳慧琴.人染色体脆性位点部位的显微光谱学研究[J].遗传,1994,16(1):1-4. 被引量:7
  • 2王怀立,刘松茂,高铁铮,王应太.130例智力低下儿童脆性X检测报告[J].遗传,1995,17(5):11-13. 被引量:3
  • 3金润铭,杨爱德,费洪宝,何美娟,赵萍,王申五,杨晓林.脆性X综合征3个家系的基因诊断[J].中国优生与遗传杂志,1996,4(6):12-15. 被引量:2
  • 4Surani M A.Imprinting and the initiation of gene silencing in the germ line[J].Cell,1998,93(3):309-312
  • 5Stoger R,Kajimura T M,Brown W T,Laird C D.Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1[J].Hum Mol Genet,1997,6(11):1791-1801
  • 6Warnecke P M,Mann J R,Frommer M,Clark S J.Bisulfite sequencing in preimplantation embryos:DNA methylation profile of the upstream region of the mouse imprinted H19 gene[J].Genomics,1998,51(2):182-190
  • 7Pietrobono R,Pomponi M G,Tabolacci E,et al.Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine[J].Nucleic Acids Res,2002,30(14):3278-3285
  • 8Sandberg G,Schalling M.Effect of in vitro promoter methylation and CGG repeat expansion on FMR-1 expression[J].Nucleic Acids Res,1997,25 (14):2883-2887
  • 9Grunau C,Clark S J,Rosenthal A.Bisulfite genomic sequencing:systematic investigation of critical experimental parameters[J].Nucleic Acids Res,2001,29 (13):E65-5
  • 10Raizis A M,Schmitt F,Jost J P.A bisulfite method of 5-methylcytosine mapping that minimizes template degradation[J].Anal Biochem,1995,226(1):161-166

共引文献15

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
  • 9杨建一,白爱萍.脆性X综合征的诊断方法[J].医学综述,1999,5(12):537-539. 被引量:1

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