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Volumn 6, Issue 4, 1997, Pages 563-569

Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; DNA; DNA MARKER; PROTEIN KINASE;

EID: 0030969280     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.4.563     Document Type: Article
Times cited : (23)

References (37)
  • 1
    • 0017068491 scopus 로고
    • Familial spastic paraparesis, optic atrophy, and dementia: Clinical observations of affected kindred
    • Rothner, A.D., Yahr,F., and Yahr,M.D. (1976) Familial spastic paraparesis, optic atrophy, and dementia: clinical observations of affected kindred. NY J. Med., 76, 756-758.
    • (1976) NY J. Med. , vol.76 , pp. 756-758
    • Rothner, A.D.1    Yahr, F.2    Yahr, M.D.3
  • 2
    • 0025828441 scopus 로고
    • Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)
    • Salonen,R., Somer,M., Haltia,M., Lorentz,M., and Norio,R. (1991) Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin. Genet., 39, 287-293.
    • (1991) Clin. Genet. , vol.39 , pp. 287-293
    • Salonen, R.1    Somer, M.2    Haltia, M.3    Lorentz, M.4    Norio, R.5
  • 3
    • 0021744337 scopus 로고
    • Growth retardation, alopecia, pseudoanodontia, and optic atrophy - The GAPO syndrome: Report of a patient and review of the literature
    • Tipton,R.E., and Gorlin,R.J. (1984) Growth retardation, alopecia, pseudoanodontia, and optic atrophy - the GAPO syndrome: report of a patient and review of the literature. Am. J. Med. Genet., 19, 209-216.
    • (1984) Am. J. Med. Genet. , vol.19 , pp. 209-216
    • Tipton, R.E.1    Gorlin, R.J.2
  • 4
    • 0001482616 scopus 로고
    • Die komplizierte, hereditaer-familiaere Optikusatrophie des Kindesalters: Ein bisher nicht beschriebener Symptomenkomplex
    • Behr,C. (1909) Die komplizierte, hereditaer-familiaere Optikusatrophie des Kindesalters: ein bisher nicht beschriebener Symptomenkomplex. Klin. Mbl. Augenheilk., 47, 138-160.
    • (1909) Klin. Mbl. Augenheilk. , vol.47 , pp. 138-160
    • Behr, C.1
  • 5
    • 0038289924 scopus 로고
    • A sex-linked heredo-degenerative disorder associated with Leber's optic atrophy. Genetic aspects
    • Went,L.N. (1964) A sex-linked heredo-degenerative disorder associated with Leber's optic atrophy. Genetic aspects. Acta Genet. Statist. Med., 14, 220-239.
    • (1964) Acta Genet. Statist. Med. , vol.14 , pp. 220-239
    • Went, L.N.1
  • 7
    • 0021240113 scopus 로고
    • Behr's syndrome: A family exhibiting pseudominant inheritance
    • Thomas,P.K., Workman,J.M., and Thage,O. (1984) Behr's syndrome: a family exhibiting pseudominant inheritance. J. Neurol. Sci., 64, 137-148.
    • (1984) J. Neurol. Sci. , vol.64 , pp. 137-148
    • Thomas, P.K.1    Workman, J.M.2    Thage, O.3
  • 8
    • 84924064715 scopus 로고
    • Infantile optic atrophy with dominant mode of inheritance: A clinical and genetic study of 19 Danish families
    • Kjer,P. (1959) Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophthal., 54, 1-146.
    • (1959) Acta Ophthal. , vol.54 , pp. 1-146
    • Kjer, P.1
  • 9
    • 0028264428 scopus 로고
    • Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis
    • Eiberg,H., Kjer,B., Kjer,P., and Rosenberg,P. (1994) Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum. Mol. Genet., 3, 977-980.
    • (1994) Hum. Mol. Genet. , vol.3 , pp. 977-980
    • Eiberg, H.1    Kjer, B.2    Kjer, P.3    Rosenberg, P.4
  • 11
    • 0024582283 scopus 로고
    • A familial syndrome of infantile optic atrophy, movement disorder, and spasitc paraplegia
    • Costeff,H., Gadoth,N., Apter,N., Prialnic,M., and Savir,H. (1989) A familial syndrome of infantile optic atrophy, movement disorder, and spasitc paraplegia. Neurology, 39, 595-597.
    • (1989) Neurology , vol.39 , pp. 595-597
    • Costeff, H.1    Gadoth, N.2    Apter, N.3    Prialnic, M.4    Savir, H.5
  • 14
    • 0022553045 scopus 로고
    • Deficiency of 3-methylglutaconyl-coenzyme a hydratase in two siblings with 3-methylglutaconic aciduria
    • Narisawa,K., Gibson,K.M., Sweetman,L., Nyhan,W.L., Duran,M., and Wadman,S.W. (1986) Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. J. Clin. Invest., 77, 1148-1152.
    • (1986) J. Clin. Invest. , vol.77 , pp. 1148-1152
    • Narisawa, K.1    Gibson, K.M.2    Sweetman, L.3    Nyhan, W.L.4    Duran, M.5    Wadman, S.W.6
  • 19
    • 0028828135 scopus 로고
    • Perspectives of identity by descent (IBD) mapping in founder populations
    • Te Meerman,G.J., Van Der Meulen,M.A., and Sandkuijl,L.A. (1995) Perspectives of identity by descent (IBD) mapping in founder populations. Clin. Exp. Allergy, 25, 97-102.
    • (1995) Clin. Exp. Allergy , vol.25 , pp. 97-102
    • Te Meerman, G.J.1    Van Der Meulen, M.A.2    Sandkuijl, L.A.3
  • 22
    • 0023693313 scopus 로고
    • Human creatine kinase genes on chromosome 15 and 19, and proximity of the gene for the muscle form to the genes for apolipoprotein C2 and excision repair
    • Stallings,R.L., Olson,E., Strauss,A.W., Thompson,L.H., Bachinski,L.L., and Siciliano,M.J. (1988) Human creatine kinase genes on chromosome 15 and 19, and proximity of the gene for the muscle form to the genes for apolipoprotein C2 and excision repair. Am. J. Hum. Genet., 43, 144-151.
    • (1988) Am. J. Hum. Genet. , vol.43 , pp. 144-151
    • Stallings, R.L.1    Olson, E.2    Strauss, A.W.3    Thompson, L.H.4    Bachinski, L.L.5    Siciliano, M.J.6
  • 25
    • 0029963073 scopus 로고    scopus 로고
    • Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification
    • Sheffield,V.C., Kraiem,Z., Beck,J.C., Nishimura,D., Stone,E.M., Salameh,M., Sadeh,O., and Glaser,B. (1996) Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification. Nature Genet., 12, 424-426.
    • (1996) Nature Genet. , vol.12 , pp. 424-426
    • Sheffield, V.C.1    Kraiem, Z.2    Beck, J.C.3    Nishimura, D.4    Stone, E.M.5    Salameh, M.6    Sadeh, O.7    Glaser, B.8
  • 26
    • 0029811339 scopus 로고    scopus 로고
    • An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds
    • Scott,D.A., Carmi,R., Elbedour,K., Yosefsberg,S., Stone,E.M., and Sheffield,V.C. (1996) An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am. J. Hum. Genet., 59, 385-391.
    • (1996) Am. J. Hum. Genet. , vol.59 , pp. 385-391
    • Scott, D.A.1    Carmi, R.2    Elbedour, K.3    Yosefsberg, S.4    Stone, E.M.5    Sheffield, V.C.6
  • 27
    • 0029925102 scopus 로고    scopus 로고
    • A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands
    • Nystuen,A., Benke,P.J., Merren,J., Stone,E.M., and Sheffieid,V.C. (1996) A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands. Hum. Mol. Genet., 5, 525-531.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 525-531
    • Nystuen, A.1    Benke, P.J.2    Merren, J.3    Stone, E.M.4    Sheffieid, V.C.5
  • 30
    • 0022406574 scopus 로고
    • The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase)
    • Humphries,S.E., Tata,F., Henry,I., Barichard,F., Holm,M., Junien,C., and Williamson,R. (1985) The isolation, characterisation, and chromosomal assignment of the gene for human 3-hydroxy-3-methylglutaryl coenzyme A reductase, (HMG-CoA reductase). Hum. Genet., 71, 254-258.
    • (1985) Hum. Genet. , vol.71 , pp. 254-258
    • Humphries, S.E.1    Tata, F.2    Henry, I.3    Barichard, F.4    Holm, M.5    Junien, C.6    Williamson, R.7
  • 31
    • 0025800526 scopus 로고
    • Androgen receptor mutations in X-linked spinal and bulbar muscular atrophy
    • La Spada,A.R., Wilson,E.M., Lubahn,D.B., Harding,A.E., and Fischbeck,K.H. (1991) Androgen receptor mutations in X-linked spinal and bulbar muscular atrophy. Nature, 352, 77-79.
    • (1991) Nature , vol.352 , pp. 77-79
    • La Spada, A.R.1    Wilson, E.M.2    Lubahn, D.B.3    Harding, A.E.4    Fischbeck, K.H.5
  • 32
    • 0027402346 scopus 로고
    • Genetic basis of endocrine disease 4: The spectrum of mutations in the androgen receptor gene the causes androgen resistance
    • McPhaul,M.J., Marcelli,M., Zopppi,S., Griffin,J.E., and Wilson,J.D. (1993) Genetic basis of endocrine disease 4: the spectrum of mutations in the androgen receptor gene the causes androgen resistance. J. Clin. Endocr. Metab., 76, 17-23.
    • (1993) J. Clin. Endocr. Metab. , vol.76 , pp. 17-23
    • McPhaul, M.J.1    Marcelli, M.2    Zopppi, S.3    Griffin, J.E.4    Wilson, J.D.5
  • 33
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller,S.A., Dykes,D.D., and Polesky,H.F. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res., 16, 1215.
    • (1988) Nucleic Acids Res. , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.A.2    Polesky, H.F.3
  • 34
    • 0025835296 scopus 로고
    • Fast and sensitive silver staining of DNA in polyacrylamide gels
    • Bassam,B.J., Caetano-Anolles,G. and Gresshoff,P.M. (1991) Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal. Biochem., 196, 80-83.
    • (1991) Anal. Biochem. , vol.196 , pp. 80-83
    • Bassam, B.J.1    Caetano-Anolles, G.2    Gresshoff, P.M.3
  • 35
    • 0043048571 scopus 로고
    • Sequential tests for the detection of linkage
    • Morton,N.E. (1955) Sequential tests for the detection of linkage. Am. J. Hum. Genet., 7, 277-318.
    • (1955) Am. J. Hum. Genet. , vol.7 , pp. 277-318
    • Morton, N.E.1
  • 36
    • 0024190141 scopus 로고
    • Programs for pedigree analysis: MENDEL, FISHER, and dGENE
    • Lange,K., Weeks,D.E., and Boehnke,M. (1988) Programs for pedigree analysis: MENDEL, FISHER, and dGENE. Genet. Epidemiol., 5, 471-472.
    • (1988) Genet. Epidemiol. , vol.5 , pp. 471-472
    • Lange, K.1    Weeks, D.E.A.2    Boehnke, M.3
  • 37
    • 0027193630 scopus 로고
    • The sensitivity of single-strand confromation polymorphism analysis for the dectection of single base substitutions
    • Sheffield,V.C. Beck,J.S., Kwitek,A.E., Sandstrom,D.W., and Stone,E.M. (1993) The sensitivity of single-strand confromation polymorphism analysis for the dectection of single base substitutions. Genomics, 16, 325-332.
    • (1993) Genomics , vol.16 , pp. 325-332
    • Sheffield, V.C.1    Beck, J.S.2    Kwitek, A.E.3    Sandstrom, D.W.4    Stone, E.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.