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Volumn 270, Issue 13, 1993, Pages 1569-1575

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; FRAGILE X SYNDROME; GENETIC COUNSELING; HETEROZYGOTE DETECTION; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCREENING TEST;

EID: 0027375451     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.1993.03510130075034     Document Type: Article
Times cited : (242)

References (55)
  • 1
    • 0026663529 scopus 로고
    • Conference Report: Fifth International Workshop on the Fragile X and X-Linked Mental Retardation
    • Mandel JL, Hagerman R, Frostier U, et al. Conference Report: Fifth International Workshop on the Fragile X and X-Linked Mental Retardation. Am J Med Genet. 1991;43:5-27.
    • (1991) Am J Med Genet , vol.43 , pp. 5-27
    • Mandel, J.L.1    Hagerman, R.2    Frostier, U.3
  • 2
    • 0027032397 scopus 로고
    • The fragile X syndrome
    • Orlando, Fla: Academic Press Inc
    • Brown WT, Jenkins EC. The fragile X syndrome. In: Freidman T, ed. Molecular Genetic Medicine. Orlando, Fla: Academic Press Inc; 1992;2:39-66.
    • (1992) Molecular Genetic Medicine , vol.2 , pp. 39-66
    • Brown, W.T.1    Jenkins, E.C.2
  • 3
    • 0021081102 scopus 로고
    • Fragile X syndrome in mildly mentally retarded children in a northern Swedish county: a prevalence study
    • Blomquist HK, Gustavson KH, Holgrem G, Nordenson I, Palsson-Strae U. Fragile X syndrome in mildly mentally retarded children in a northern Swedish county: a prevalence study. Clin Genet. 1983;24: 393-398.
    • (1983) Clin Genet , vol.24 , pp. 393-398
    • Blomquist, H.K.1    Gustavson, K.H.2    Holgrem, G.3    Nordenson, I.4    Palsson-Strae, U.5
  • 4
    • 0022911920 scopus 로고
    • The frequency of the fragile X chromosome among school children in Coventry
    • Webb TP, Bundey SE, Thake AI, Todd J. The frequency of the fragile X chromosome among school children in Coventry. J Med Genet. 1986;23:396-399.
    • (1986) J Med Genet , vol.23 , pp. 396-399
    • Webb, T.P.1    Bundey, S.E.2    Thake, A.I.3    Todd, J.4
  • 6
    • 0021961665 scopus 로고
    • Further segregation analysis of the fragile X syndrome with special reference to transmitting males
    • Sherman SL, Jacobs PA, Morton NE, et al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet. 1985;69:289-299.
    • (1985) Hum Genet , vol.69 , pp. 289-299
    • Sherman, S.L.1    Jacobs, P.A.2    Morton, N.E.3
  • 9
    • 0026717965 scopus 로고
    • Prenatally detected fragile X females: long-term follow-up studies show high risk of mental impairment
    • Brown WT, Jenkins EC, Goonewardena P, Miezejeski CJ, Devys D. Prenatally detected fragile X females: long-term follow-up studies show high risk of mental impairment. Am J Med Genet. 1992; 43:96-102.
    • (1992) Am J Med Genet , vol.43 , pp. 96-102
    • Brown, W.T.1    Jenkins, E.C.2    Goonewardena, P.3    Miezejeski, C.J.4    Devys, D.5
  • 10
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk 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;65:905-914.
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.1    Pieretti, M.2    Sutcliffe, J.S.3
  • 11
    • 0025952727 scopus 로고
    • Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
    • Rousseau F, Heitz D, Biancalana V, et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med. 1991;325:1673-1681.
    • (1991) N Engl J Med , vol.325 , pp. 1673-1681
    • Rousseau, F.1    Heitz, D.2    Biancalana, V.3
  • 12
    • 0025833298 scopus 로고
    • Absence of expression of the FMR-1 gene in fragile X syndrome
    • Pieretti M, Zhang F, Fu YH, et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell. 1991;66:1-20.
    • (1991) Cell , vol.66 , pp. 1-20
    • Pieretti, M.1    Zhang, F.2    Fu, Y.H.3
  • 14
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3’ untranslated region of the gene. Science. 1992; 255:1253-1255.
    • (1992) Science , vol.255 , pp. 1253-1255
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3
  • 15
    • 0027023516 scopus 로고
    • Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy
    • La Spada AR, Roling DB, Harding AE, et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy. Nat Genet. 1992;2:301-304.
    • (1992) Nat Genet , vol.2 , pp. 301-304
    • La Spada, A.R.1    Roling, D.B.2    Harding, A.E.3
  • 16
    • 0027480960 scopus 로고
    • A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
    • Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell. 1993;72:971-983.
    • (1993) Cell , vol.72 , pp. 971-983
    • Huntington's Disease Collaborative Research Group1
  • 17
    • 0027411739 scopus 로고
    • The fragile X syndrome: no evidence for any recent mutations
    • Smits APT, Dreesen JCFM, Post JG, et al. The fragile X syndrome: no evidence for any recent mutations. J Med Genet. 1993;30:94-96.
    • (1993) J Med Genet , vol.30 , pp. 94-96
    • Smits, A.P.T.1    Dreesen, J.2    Post, J.G.3
  • 18
    • 0027510190 scopus 로고
    • Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker
    • Shelbourne P, Davies J, Buxton J, et al. Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med. 1993;328:471-475.
    • (1993) N Engl J Med , vol.328 , pp. 471-475
    • Shelbourne, P.1    Davies, J.2    Buxton, J.3
  • 19
    • 0026548473 scopus 로고
    • Expansion of unstable DNA region in Japanese myotonic dystrophy patients
    • Yamagata H, Miki T, Ogihara T, et al. Expansion of unstable DNA region in Japanese myotonic dystrophy patients. Lancet. 1992;339:692.
    • (1992) Lancet , vol.339 , pp. 692
    • Yamagata, H.1    Miki, T.2    Ogihara, T.3
  • 20
    • 0026893655 scopus 로고
    • Evidence of founder chromosomes in fragile X syndrome
    • Richards RI, Holman K, Friend K, et al. Evidence of founder chromosomes in fragile X syndrome. Nat Genet. 1992;1:257-260.
    • (1992) Nat Genet , vol.1 , pp. 257-260
    • Richards, R.I.1    Holman, K.2    Friend, K.3
  • 21
    • 0027416537 scopus 로고
    • Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes
    • Oudet C, Mornet E, Serre JL, et al. Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet. 1993;52: 297-304.
    • (1993) Am J Hum Genet , vol.52 , pp. 297-304
    • Oudet, C.1    Mornet, E.2    Serre, J.L.3
  • 22
    • 84935374891 scopus 로고
    • Prenatal detection of fragile X: experience of 10 years including introduction to molecular testing
    • Dillon Springs, Colo: Spectra Publishing Co Inc
    • Jenkins EC, Houck GE Jr, Jeziorowska A, et al. Prenatal detection of fragile X: experience of 10 years including introduction to molecular testing. In: Hagerman RJ, McKenzie P, eds. 1992 International Fragile X Conference Proceedings. Dillon Springs, Colo: Spectra Publishing Co Inc; 1992:349-355.
    • (1992) 1992 International Fragile X Conference Proceedings , pp. 349-355
    • Jenkins, E.C.1    Houck, G.E.2    Jeziorowska, A.3
  • 24
    • 84913383218 scopus 로고
    • Clinical use of DNA markers in the fragile (X) syndrome for carrier detection and prenatal diagnosis
    • New York, NY: Alan R Liss Inc
    • Brown WT, Jenkins EC, Gross AC, et al. Clinical use of DNA markers in the fragile (X) syndrome for carrier detection and prenatal diagnosis. In: Willey AM, ed. Nucleic Acid Probes in Diagnosis of Human Genetic Diseases. New York, NY: Alan R Liss Inc; 1988:11-34.
    • (1988) Nucleic Acid Probes in Diagnosis of Human Genetic Diseases , pp. 11-34
    • Brown, W.T.1    Jenkins, E.C.2    Gross, A.C.3
  • 26
    • 0001575332 scopus 로고
    • Prenatal diagnosis of fragile X syndrome
    • Dobkin CS, Ding XH, Jenkins EC, et al. Prenatal diagnosis of fragile X syndrome. Lancet. 1991;338: 957-958.
    • (1991) Lancet , vol.338 , pp. 957-958
    • Dobkin, C.S.1    Ding, X.H.2    Jenkins, E.C.3
  • 27
    • 0026049556 scopus 로고
    • Prenatal diagnosis of the fragile X syndrome
    • Hirst M, Knight S, Davies K, et al. Prenatal diagnosis of the fragile X syndrome. Lancet. 1991; 338:956-957.
    • (1991) Lancet , vol.338 , pp. 956-957
    • Hirst, M.1    Knight, S.2    Davies, K.3
  • 28
    • 0026095336 scopus 로고
    • Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence
    • Sutherland GR, Gedeon A, Kornman L, et al. Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. N Engl J Med. 1991;325:1720-1722.
    • (1991) N Engl J Med , vol.325 , pp. 1720-1722
    • Sutherland, G.R.1    Gedeon, A.2    Kornman, L.3
  • 29
    • 0023850178 scopus 로고
    • Primerdirected enzymatic amplification of DNA with a thermostable DNA polymerase
    • Saiki RK, Gelfand DH, Stoffel S, et al. Primerdirected enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988;239:487-491.
    • (1988) Science , vol.239 , pp. 487-491
    • Saiki, R.K.1    Gelfand, D.H.2    Stoffel, S.3
  • 30
    • 0027409323 scopus 로고
    • The polymerase chain reaction: a tool for molecular medicine
    • Markham AF. The polymerase chain reaction: a tool for molecular medicine. BMJ. 1993;306:441-446.
    • (1993) BMJ , vol.306 , pp. 441-446
    • Markham, A.F.1
  • 31
    • 0026347628 scopus 로고
    • Fragile X genotype characterized by an unstable region of DNA
    • Yu S, Pritchard M, Kremer E, et al. Fragile X genotype characterized by an unstable region of DNA. Science. 1991;252:1179-1181.
    • (1991) Science , vol.252 , pp. 1179-1181
    • Yu, S.1    Pritchard, M.2    Kremer, E.3
  • 32
    • 0026345716 scopus 로고
    • Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
    • Fu 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;67:1047-1058.
    • (1991) Cell , vol.67 , pp. 1047-1058
    • Fu, Y.H.1    Kuhl, D.P.A.2    Pizzuti, A.3
  • 33
    • 0026586425 scopus 로고
    • Detection of full fragile X mutations by polymerase chain reaction
    • Pergolizzi RG, Erster SH, Goonewardena P, Brown WT. Detection of full fragile X mutations by polymerase chain reaction. Lancet. 1992;339:271-272.
    • (1992) Lancet , vol.339 , pp. 271-272
    • Pergolizzi, R.G.1    Erster, S.H.2    Goonewardena, P.3    Brown, W.T.4
  • 35
    • 0000457381 scopus 로고
    • Preparation of genomic DNA from mammalian tissue
    • New York, NY: John Wiley and Sons Inc
    • Strauss WM. Preparation of genomic DNA from mammalian tissue. In: Ausubel FM, Brent R, Kinston RE, et al, eds. Current Protocols in Molecular Biology. New York, NY: John Wiley and Sons Inc; 1988;1:2.2.1-2.2.3.
    • (1988) Current Protocols in Molecular Biology , vol.1 , pp. 2.2.1-2.2.3
    • Strauss, W.M.1
  • 36
    • 0026635945 scopus 로고
    • Fra(X) prenatal diagnosis: are endoreduplicated and polyploid cells useful diagnostic criteria?
    • Krawczun MS, Duncan CJ, Stark-Houck SL, Jenkins EC. Fra(X) prenatal diagnosis: are endoreduplicated and polyploid cells useful diagnostic criteria? Am J Med Genet. 1992;43:149-154.
    • (1992) Am J Med Genet , vol.43 , pp. 149-154
    • Krawczun, M.S.1    Duncan, C.J.2    Stark-Houck, S.L.3    Jenkins, E.C.4
  • 37
    • 0024438993 scopus 로고
    • A computer program for choosing optimal oligonucleotides for filter hybridization, sequencing and in vitro amplification of DNA
    • Rychlik W, Rhoads RE. A computer program for choosing optimal oligonucleotides for filter hybridization, sequencing and in vitro amplification of DNA. Nucleic Acids Res. 1989;17:8543-8551.
    • (1989) Nucleic Acids Res , vol.17 , pp. 8543-8551
    • Rychlik, W.1    Rhoads, R.E.2
  • 38
    • 0026865024 scopus 로고
    • Preferential PCR amplification of alleles: mechanisms and solutions
    • Walsh PS, Erlich HA, Higuchi R. Preferential PCR amplification of alleles: mechanisms and solutions. PCR Methods Appli. 1992;1:241-250.
    • (1992) PCR Methods Appli , vol.1 , pp. 241-250
    • Walsh, P.S.1    Erlich, H.A.2    Higuchi, R.3
  • 39
    • 0025831964 scopus 로고
    • Excessive cycling converts PCR products to random-length higher molecular weight fragments
    • Bell DA, DeMarini DM. Excessive cycling converts PCR products to random-length higher molecular weight fragments. Nucleic Acids Res. 1991; 19:5079.
    • (1991) Nucleic Acids Res , vol.19 , pp. 5079
    • Bell, D.A.1    DeMarini, D.M.2
  • 41
    • 0026443244 scopus 로고
    • Semi-dry electroblotting of DNA and RNA from agarose and polyacrylamid gels
    • Trnovsky J. Semi-dry electroblotting of DNA and RNA from agarose and polyacrylamid gels. Biotechniques. 1992;13:800-803.
    • (1992) Biotechniques , vol.13 , pp. 800-803
    • Trnovsky, J.1
  • 42
    • 0025262326 scopus 로고
    • Nonradioactive DNA detection on Southern blots by enzymatically triggered chemiluminescence
    • Pollard-Knight D, Simmonds AC, Schaap AP, Akhavan H, Brady MA. Nonradioactive DNA detection on Southern blots by enzymatically triggered chemiluminescence. Anal Biochem. 1990;185:353-358.
    • (1990) Anal Biochem , vol.185 , pp. 353-358
    • Pollard-Knight, D.1    Simmonds, A.C.2    Schaap, A.P.3    Akhavan, H.4    Brady, M.A.5
  • 43
    • 0024411761 scopus 로고
    • A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction
    • Witt M, Erickson RP. A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction. Hum Genet. 1989;82:271-274.
    • (1989) Hum Genet , vol.82 , pp. 271-274
    • Witt, M.1    Erickson, R.P.2
  • 44
    • 0026922707 scopus 로고
    • DNA methylation represses FMR-1 transcription in fragile X syndrome
    • Sutcliffe JS, Nelson DL, Zhang F, et al. DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet. 1992;1:397-400.
    • (1992) Hum Mol Genet , vol.1 , pp. 397-400
    • Sutcliffe, J.S.1    Nelson, D.L.2    Zhang, F.3
  • 45
    • 0344181377 scopus 로고
    • PCR with 7-deaza-2'-deoxyguanosine triphosphate
    • Orlando, Fla: Academic Press Inc
    • Innis MA. PCR with 7-deaza-2'-deoxyguanosine triphosphate. In: Innis MA, Gelfand DH, Snisky JJ, White TJ, eds. PCR Protocols: A Guide to Methods and Applications. Orlando, Fla: Academic Press Inc; 1990:54-59.
    • (1990) PCR Protocols: A Guide to Methods and Applications , pp. 54-59
    • Innis, M.A.1
  • 46
    • 0025323257 scopus 로고
    • Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
    • Patten JL, Johns DR, Valle D, et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med. 1990;322:1412-1419.
    • (1990) N Engl J Med , vol.322 , pp. 1412-1419
    • Patten, J.L.1    Johns, D.R.2    Valle, D.3
  • 47
    • 0026462708 scopus 로고
    • Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation
    • Heitz D, Devys D, Imbert G, Kretz C, Mandel JL. Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet. 1992;29: 794-801.
    • (1992) J Med Genet , vol.29 , pp. 794-801
    • Heitz, D.1    Devys, D.2    Imbert, G.3    Kretz, C.4    Mandel, J.L.5
  • 48
    • 0026451617 scopus 로고
    • Frequent small amplification in the FMR-1 gene in fra (X) families: limits to the diagnosis of ‘premutations’
    • Macpherson JN, Nelson DL, Jacobs PA. Frequent small amplification in the FMR-1 gene in fra (X) families: limits to the diagnosis of ‘premutations'. J Med Genet. 1992;29:802-806.
    • (1992) J Med Genet , vol.29 , pp. 802-806
    • Macpherson, J.N.1    Nelson, D.L.2    Jacobs, P.A.3
  • 49
    • 0026745930 scopus 로고
    • Characteristics of polymorphism at a VNTR locus 3’ to the apolipoprotein B gene in five human populations
    • Deka R, Chakraborty R, DeCroo S, Rothhammer F, Barton SA, Ferrel RE. Characteristics of polymorphism at a VNTR locus 3’ to the apolipoprotein B gene in five human populations. Am J Hum Genet. 1992;51:1325-1333.
    • (1992) Am J Hum Genet , vol.51 , pp. 1325-1333
    • Deka, R.1    Chakraborty, R.2    DeCroo, S.3    Rothhammer, S.4    Barton, S.5    Ferrel, S.6
  • 50
    • 0026509595 scopus 로고
    • Allele frequency distribution of the (TG)n(AG)m microsatellite in the apolipoprotein C-II gene
    • Fornage M, Chan L, Siest G, Boerwinkle E. Allele frequency distribution of the (TG)n(AG)m microsatellite in the apolipoprotein C-II gene. Genomics. 1992;12:63-68.
    • (1992) Genomics , vol.12 , pp. 63-68
    • Fornage, M.1    Chan, L.2    Siest, G.3    Boerwinkle, E.4
  • 51
    • 0023256559 scopus 로고
    • Slipped-strand mispairing: a major mechanism for DNA sequence evolution
    • Levinson G, Gutman GA. Slipped-strand mispairing: a major mechanism for DNA sequence evolution. Mol Biol Evol. 1987;4:203-221.
    • (1987) Mol Biol E , vol.4 , pp. 203-221
    • Levinson, G.1    Gutman, G.A.2
  • 53
    • 0026254629 scopus 로고
    • Utility of PCR for DNA analysis from dried blood spots on filter paper blotters
    • McCabe ERB. Utility of PCR for DNA analysis from dried blood spots on filter paper blotters. PCR Methods Appli. 1991;1:99-106.
    • (1991) PCR Methods Appli , vol.1 , pp. 99-106
    • McCabe, E.R.B.1
  • 54
    • 0026525424 scopus 로고
    • Population screening for fragile X
    • Turner G, Robinson H, Laing S, et al. Population screening for fragile X. Lancet. 1992;339:1210-1213.
    • (1992) Lancet , vol.339 , pp. 1210-1213
    • Turner, G.1    Robinson, H.2    Laing, S.3
  • 55
    • 0026057778 scopus 로고
    • Fragile X screening program in New York State
    • Nolin SL, Snider DA, Jenkins EC, et al. Fragile X screening program in New York State. Am J Med Genet. 1991;38:251-255.
    • (1991) Am J Med Genet , vol.38 , pp. 251-255
    • Nolin, S.L.1    Snider, D.A.2    Jenkins, E.C.3


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