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Volumn 117, Issue 2-3, 2005, Pages 177-187

Anatomy of a founder effect: Myotonic dystrophy in Northeastern Quebec

Author keywords

Founder effect; Myotonic dystrophy; Northeastern Quebec; SNPs

Indexed keywords

ARTICLE; CANADA; CONTROLLED STUDY; FOUNDER EFFECT; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; INCIDENCE; MICROSATELLITE MARKER; MYOTONIC DYSTROPHY; PHYLOGENY; PREVALENCE; PRIORITY JOURNAL; ALLELE; FEMALE; GENETICS; HETEROZYGOTE; MALE; MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 26944468325     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1298-8     Document Type: Article
Times cited : (46)

References (55)
  • 2
    • 0032410933 scopus 로고    scopus 로고
    • Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population
    • Austerlitz F, Heyer E (1998) Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population. Proc Natl Acad Sci USA 95:15140-15144
    • (1998) Proc Natl Acad Sci USA , vol.95 , pp. 15140-15144
    • Austerlitz, F.1    Heyer, E.2
  • 3
    • 0346991739 scopus 로고    scopus 로고
    • Detecting population growth, selection and inherited fertility from haplotypic data in humans
    • Austerlitz F, Kalaydjieva L, Heyer E (2003) Detecting population growth, selection and inherited fertility from haplotypic data in humans. Genetics 165:1579-1586
    • (2003) Genetics , vol.165 , pp. 1579-1586
    • Austerlitz, F.1    Kalaydjieva, L.2    Heyer, E.3
  • 4
    • 0019732410 scopus 로고
    • Measuring the strength of associations between HLA antigens and diseases
    • Bengtsson BO, Thomson G (1981) Measuring the strength of associations between HLA antigens and diseases. Tissue Antigens 18:356-363
    • (1981) Tissue Antigens , vol.18 , pp. 356-363
    • Bengtsson, B.O.1    Thomson, G.2
  • 5
    • 0011118529 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy: From phenotype to genotype
    • McGill University, Montreal
    • Brais B (1998) Oculopharyngeal muscular dystrophy: From phenotype to genotype. McGill University, Montreal
    • (1998)
    • Brais, B.1
  • 7
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T et al (1992) Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68:799-808
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3    Buckler, A.J.4    Church, D.5    Aburatani, H.6    Hunter, K.7    Stanton, V.P.8    Thirion, J.P.9    Hudson, T.10
  • 10
    • 0027978393 scopus 로고
    • Hereditary tyrosinemia type I: Strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis
    • Demers SI, Phaneuf D, Tanguay RM (1994) Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis. Am J Hum Genet 55:327-333
    • (1994) Am J Hum Genet , vol.55 , pp. 327-333
    • Demers, S.I.1    Phaneuf, D.2    Tanguay, R.M.3
  • 12
    • 0008529741 scopus 로고
    • De Charlevoix au Saguenay: Mesure et caractéristiques du mouvement migratoire avant 1911
    • Bouchard G, de Braekeleer M et al (eds) Presses de l'Université du Québec, Sillery
    • Gauvreau D, Guerin M, Hamel M (1991) De Charlevoix au Saguenay: Mesure et caractéristiques du mouvement migratoire avant 1911. Bouchard G, de Braekeleer M et al (eds) Histoire d'un génome. Population et génétique dans l'est du Québec. Presses de l'Université du Québec, Sillery, pp 145-159
    • (1991) Histoire D'un Génome. Population Et Génétique Dans L'est Du Québec , pp. 145-159
    • Gauvreau, D.1    Guerin, M.2    Hamel, M.3
  • 13
    • 0029038408 scopus 로고
    • New founder haplotypes at the myotonic dystrophy locus in southern Africa
    • Goldman A, Ramsay M, Jenkins T (1995) New founder haplotypes at the myotonic dystrophy locus in southern Africa. Am J Hum Genet 56:1373-1378
    • (1995) Am J Hum Genet , vol.56 , pp. 1373-1378
    • Goldman, A.1    Ramsay, M.2    Jenkins, T.3
  • 14
    • 0029832024 scopus 로고    scopus 로고
    • Founder effect and prevalence of myotonic dystrophy in South Africans: Molecular studies
    • Goldman A, Krause A, Ramsay M, Jenkins T (1996) Founder effect and prevalence of myotonic dystrophy in South Africans: Molecular studies. Am J Hum Genet 59:445-452
    • (1996) Am J Hum Genet , vol.59 , pp. 445-452
    • Goldman, A.1    Krause, A.2    Ramsay, M.3    Jenkins, T.4
  • 18
    • 0024487995 scopus 로고
    • Gene mapping and the muscular dystrophies
    • Harper PS (1989) Gene mapping and the muscular dystrophies. Prog Clin Biol Res 306:29-49
    • (1989) Prog Clin Biol Res , vol.306 , pp. 29-49
    • Harper, P.S.1
  • 19
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland [published erratum appears in Nat Genet 1992 Dec 2(4):343]
    • Hastbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E (1992) Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland [published erratum appears in Nat Genet 1992 Dec 2(4):343]. Nat Genet 2:204-211
    • (1992) Nat Genet , vol.2 , pp. 204-211
    • Hastbacka, J.1    de la Chapelle, A.2    Kaitila, I.3    Sistonen, P.4    Weaver, A.5    Lander, E.6
  • 20
    • 0002577974 scopus 로고
    • Aux origines d'une région: Le peuplement fondateur de Charlevoix avant 1850
    • Bouchard G, de Braekeleer M et al (eds) Presses de l'Université du Québec, Sillery
    • Jetté R, Gauvreau D, Guerin M (1991) Aux origines d'une région: Le peuplement fondateur de Charlevoix avant 1850. Bouchard G, de Braekeleer M et al (eds) Histoire d'un génome. Population et génétique dans l'est du Québec. Presses de l'Université du Québec, Sillery, pp 75-106
    • (1991) Histoire D'un Génome. Population Et Génétique Dans L'est Du Québec , pp. 75-106
    • Jetté, R.1    Gauvreau, D.2    Guerin, M.3
  • 21
    • 0002726066 scopus 로고    scopus 로고
    • Analyses généalogiques à partir du fichier RETRO
    • Projet BALSAC, Chicoutimi, pp Document 1-C-204
    • Jomphe M, Tremblay M, Vézina H (2001) Analyses généalogiques à partir du fichier RETRO. Projet BALSAC, Chicoutimi, pp Document 1-C-204
    • (2001)
    • Jomphe, M.1    Tremblay, M.2    Vézina, H.3
  • 22
    • 0035294325 scopus 로고    scopus 로고
    • Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy? A new hypothesis of long-range cis autosomal inactivation
    • Junghans RP, Ebralidze A, Tiwari B (2001) Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy? A new hypothesis of long-range cis autosomal inactivation. Neurogenetics 3:59-67
    • (2001) Neurogenetics , vol.3 , pp. 59-67
    • Junghans, R.P.1    Ebralidze, A.2    Tiwari, B.3
  • 23
    • 0028802716 scopus 로고
    • Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population
    • Kaplan NL, Weir BS (1995) Are moment bounds on the recombination fraction between a marker and a disease locus too good to be true? Allelic association mapping revisited for simple genetic diseases in the Finnish population. Am J Hum Genet 57:1486-1498
    • (1995) Am J Hum Genet , vol.57 , pp. 1486-1498
    • Kaplan, N.L.1    Weir, B.S.2
  • 27
    • 0030809774 scopus 로고    scopus 로고
    • The genetic clock and the age of the founder effect in growing populations: A lesson from French Canadians and Ashkenazim [letter]
    • Labuda D, Zietkiewicz E, Labuda M (1997) The genetic clock and the age of the founder effect in growing populations: A lesson from French Canadians and Ashkenazim [letter]. Am J Hum Genet 61:768-771
    • (1997) Am J Hum Genet , vol.61 , pp. 768-771
    • Labuda, D.1    Zietkiewicz, E.2    Labuda, M.3
  • 31
    • 0000951097 scopus 로고
    • The evolutionary dynamics of complex polymorphisms
    • Lewontin RC, Kojima K (1960) The evolutionary dynamics of complex polymorphisms. Evolution 14:458-472
    • (1960) Evolution , vol.14 , pp. 458-472
    • Lewontin, R.C.1    Kojima, K.2
  • 32
    • 0001641514 scopus 로고
    • Mutations of bacteria from virus sensitivity to virus resistance
    • Luria SE, Delbr̈ck M (1943) Mutations of bacteria from virus sensitivity to virus resistance. Genetics 28:491-511
    • (1943) Genetics , vol.28 , pp. 491-511
    • Luria, S.E.1    Delbrück, M.2
  • 35
    • 0025266778 scopus 로고
    • Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada)
    • Mathieu J, De Braekeleer M, Prevost C (1990) Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). Neurology 40:839-842
    • (1990) Neurology , vol.40 , pp. 839-842
    • Mathieu, J.1    De Braekeleer, M.2    Prevost, C.3
  • 36
    • 0028156915 scopus 로고
    • High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation
    • Neville CE, Mahadevan MS, Barcelo JM, Korneluk RG (1994) High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. Hum Mol Genet 3:45-51
    • (1994) Hum Mol Genet , vol.3 , pp. 45-51
    • Neville, C.E.1    Mahadevan, M.S.2    Barcelo, J.M.3    Korneluk, R.G.4
  • 38
    • 0003718446 scopus 로고
    • Les Saguenayens. Introduction à l'histoire des populations du Saguenay
    • Les Presses de l'Université du Québec, Sillery
    • Pouyez C, Lavoie Y (1983) Les Saguenayens. Introduction à l'histoire des populations du Saguenay. Les Presses de l'Université du Québec, Sillery
    • (1983)
    • Pouyez, C.1    Lavoie, Y.2
  • 40
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Rozen S, Skaletsky H (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132:365-386
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 43
    • 0035776760 scopus 로고    scopus 로고
    • Human genetics: Lessons from Quebec populations
    • Scriver CR (2001) Human genetics: Lessons from Quebec populations. Annu Rev Genomics Hum Genet 2:69-101
    • (2001) Annu Rev Genomics Hum Genet , vol.2 , pp. 69-101
    • Scriver, C.R.1
  • 45
    • 0032519766 scopus 로고    scopus 로고
    • Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans
    • Shen MR, Jones IM, Mohrenweiser H (1998) Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 58:604-608
    • (1998) Cancer Res , vol.58 , pp. 604-608
    • Shen, M.R.1    Jones, I.M.2    Mohrenweiser, H.3
  • 47
    • 0031019266 scopus 로고    scopus 로고
    • Allelic disequilibrium and allele frequency distribution as a function of social and demographic history
    • Thompson EA, Neel JV (1997) Allelic disequilibrium and allele frequency distribution as a function of social and demographic history. Am J Hum Genet 60:197-204
    • (1997) Am J Hum Genet , vol.60 , pp. 197-204
    • Thompson, E.A.1    Neel, J.V.2
  • 48
    • 0033910668 scopus 로고    scopus 로고
    • New estimates of intergenerational time intervals for the calculation of age and origins of mutations
    • Tremblay M, Vezina H (2000) New estimates of intergenerational time intervals for the calculation of age and origins of mutations. Am J Hum Genet 66:651-658
    • (2000) Am J Hum Genet , vol.66 , pp. 651-658
    • Tremblay, M.1    Vezina, H.2
  • 49
    • 31344449470 scopus 로고    scopus 로고
    • Demogenetic study of three populations within a region with strong founder effect
    • Tremblay M, Lavoie EM, Houde L, Vézina H (2002) Demogenetic study of three populations within a region with strong founder effect. Eur J Hum Genet 10:183
    • (2002) Eur J Hum Genet , vol.10 , pp. 183
    • Tremblay, M.1    Lavoie, E.M.2    Houde, L.3    Vézina, H.4
  • 50
    • 0027474097 scopus 로고
    • Allele frequencies at microsatellite loci: The stepwise mutation model revisited
    • Valdes AM, Slatkin M, Freimer NB (1993) Allele frequencies at microsatellite loci: The stepwise mutation model revisited. Genetics 133:737-749
    • (1993) Genetics , vol.133 , pp. 737-749
    • Valdes, A.M.1    Slatkin, M.2    Freimer, N.B.3
  • 52
    • 0029040351 scopus 로고
    • Convergent myotonic dystrophy (DM) haplotypes: Potential inconsistencies in human disease gene localization
    • Whiting EJ, Tsilfidis C, Surh L, MacKenzie AE, Korneluk RG (1995) Convergent myotonic dystrophy (DM) haplotypes: Potential inconsistencies in human disease gene localization. Eur J Hum Genet 3:195-202
    • (1995) Eur J Hum Genet , vol.3 , pp. 195-202
    • Whiting, E.J.1    Tsilfidis, C.2    Surh, L.3    MacKenzie, A.E.4    Korneluk, R.G.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.