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Volumn 62, Issue 5, 1998, Pages 1254-1258

Linkage disequilibrium analysis in a recently founded population: Evaluation of the variegate porphyria founder in South African Afrikaners [3]

Author keywords

[No Author keywords available]

Indexed keywords

FOUNDER EFFECT; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; HAPLOTYPE; HUMAN; LETTER; PORPHYRIA VARIEGATA; PRIORITY JOURNAL;

EID: 0031971162     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301833     Document Type: Letter
Times cited : (36)

References (18)
  • 1
    • 85119794104 scopus 로고
    • B Dawson-Saunders RG Trapp Basic and clinical biostatistics 1990 Prentice Hall Englewood Heights, NJ
    • (1990)
    • Dawson-Saunders, B1    Trapp, RG2
  • 2
    • 85119816966 scopus 로고
    • G Dean The porphyrias: a story of inheritance and environment 2d ed 1971 Pitman Medical London
    • (1971)
    • Dean, G1
  • 3
    • 0030016059 scopus 로고    scopus 로고
    • Evidence for a long QT founder gene with varying phenotypic expression in South African families
    • T de Jager CH Corbett CW Badenhorst PA Brink VA Corfield Evidence for a long QT founder gene with varying phenotypic expression in South African families J Med Genet 33 1996 567 573
    • (1996) J Med Genet , vol.33 , pp. 567-573
    • de Jager, T1    Corbett, CH2    Badenhorst, CW3    Brink, PA4    Corfield, VA5
  • 5
    • 0026949420 scopus 로고
    • Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
    • J Hästbacka A de la Chapelle I Kaitila P Sistonen A Weaver E Lander Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland Nat Genet 2 1992 204 211
    • (1992) Nat Genet , vol.2 , pp. 204-211
    • Hästbacka, J1    de la Chapelle, A2    Kaitila, I3    Sistonen, P4    Weaver, A5    Lander, E6
  • 6
    • 0027942323 scopus 로고
    • Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis
    • RHJ Houwen S Baharloo K Blankenship P Raeymaekers J Juyn LA Sandkuijl NB Freimer Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis Nat Genet 8 1994 380 386
    • (1994) Nat Genet , vol.8 , pp. 380-386
    • Houwen, RHJ1    Baharloo, S2    Blankenship, K3    Raeymaekers, P4    Juyn, J5    Sandkuijl, LA6    Freimer, NB7
  • 7
    • 0025223040 scopus 로고
    • Medical genetics in South Africa
    • T Jenkins Medical genetics in South Africa J Med Genet 27 1990 760 779
    • (1990) J Med Genet , vol.27 , pp. 760-779
    • Jenkins, T1
  • 8
    • 19244362432 scopus 로고    scopus 로고
    • Linkage disequilibrium analysis in young populations: pseudo–vitamin D–deficiency rickets and the founder effect in French Canadians
    • M Labuda D Labuda M Korab-Laskowska DEC Cole E Zietkiewicz J Weissenbach E Popowska Linkage disequilibrium analysis in young populations: pseudo–vitamin D–deficiency rickets and the founder effect in French Canadians Am J Hum Genet 59 1996 633 643
    • (1996) Am J Hum Genet , vol.59 , pp. 633-643
    • Labuda, M1    Labuda, D2    Korab-Laskowska, M3    Cole, DEC4    Zietkiewicz, E5    Weissenbach, J6    Popowska, E7
  • 9
    • 0031060660 scopus 로고    scopus 로고
    • Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene
    • HM Lam L Dragan HC Tsou H Merk M Peacocke G Goerz S Sassa Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene Hum Genet 99 1997 126 129
    • (1997) Hum Genet , vol.99 , pp. 126-129
    • Lam, HM1    Dragan, L2    Tsou, HC3    Merk, H4    Peacocke, M5    Goerz, G6    Sassa, S7
  • 10
    • 0028090414 scopus 로고
    • Genetic dissection of complex traits
    • ES Lander NJ Schork Genetic dissection of complex traits Science 265 1994 2037 2048
    • (1994) Science , vol.265 , pp. 2037-2048
    • Lander, ES1    Schork, NJ2
  • 11
    • 0030140415 scopus 로고    scopus 로고
    • A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria
    • PN Meissner TA Dailey RJ Hift M Ziman AV Corrigall AG Roberts DM Meissner A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria Nat Genet 13 1996 95 97
    • (1996) Nat Genet , vol.13 , pp. 95-97
    • Meissner, PN1    Dailey, TA2    Hift, RJ3    Ziman, M4    Corrigall, AV5    Roberts, AG6    Meissner, DM7
  • 12
    • 0028069130 scopus 로고
    • Identity-by-descent and association mapping of a recessive gene for Hirschprung disease on human chromosome 13q22
    • EG Puffenberger ER Kauffman S Bolk TC Matise SS Washington M Angrist J Weissenbach Identity-by-descent and association mapping of a recessive gene for Hirschprung disease on human chromosome 13q22 Hum Mol Genet 3 1994 1217 1225
    • (1994) Hum Mol Genet , vol.3 , pp. 1217-1225
    • Puffenberger, EG1    Kauffman, ER2    Bolk, S3    Matise, TC4    Washington, SS5    Angrist, M6    Weissenbach, J7
  • 13
    • 0028887033 scopus 로고
    • Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23
    • AG Roberts SD Whatley J Daniels P Holmans I Fenton MJ Owen P Thompson Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23 Hum Mol Genet 4 1995 2387 2390
    • (1995) Hum Mol Genet , vol.4 , pp. 2387-2390
    • Roberts, AG1    Whatley, SD2    Daniels, J3    Holmans, P4    Fenton, I5    Owen, MJ6    Thompson, P7
  • 14
    • 16944365535 scopus 로고    scopus 로고
    • Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers
    • M Starfield HC Hennies M Jung T Jenkins T Wienker P Hull A Spurdle Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers Am J Hum Genet 61 1997 370 378
    • (1997) Am J Hum Genet , vol.61 , pp. 370-378
    • Starfield, M1    Hennies, HC2    Jung, M3    Jenkins, T4    Wienker, T5    Hull, P6    Spurdle, A7
  • 15
    • 0028863791 scopus 로고
    • The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1
    • S Taketani J Inazawa T Abe T Furukawa H Kohno R Tokunaga K Nishimura The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1 Genomics 29 1995 698 703
    • (1995) Genomics , vol.29 , pp. 698-703
    • Taketani, S1    Inazawa, J2    Abe, T3    Furukawa, T4    Kohno, H5    Tokunaga, R6    Nishimura, K7
  • 16
    • 85119786007 scopus 로고    scopus 로고
    • Molecular genetic evidence for a founder effect in variegate porphyria in South Africa
    • L Warnich JZ Groenewald IM Groenewald MJ Kotze AE Retief Molecular genetic evidence for a founder effect in variegate porphyria in South Africa Braz J Genet Suppl 19 1996 235
    • (1996) Braz J Genet , Issue.Suppl 19 , pp. 235
    • Warnich, L1    Groenewald, JZ2    Groenewald, IM3    Kotze, MJ4    Retief, AE5
  • 17
    • 8944263312 scopus 로고    scopus 로고
    • Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria
    • L Warnich MJ Kotze IM Groenewald JZ Groenewald MG van Brakel CJ van Heerden JP de Villiers Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria Hum Mol Genet 5 1996 981 984
    • (1996) Hum Mol Genet , vol.5 , pp. 981-984
    • Warnich, L1    Kotze, MJ2    Groenewald, IM3    Groenewald, JZ4    van Brakel, MG5    van Heerden, CJ6    de Villiers, JP7
  • 18
    • 0029940761 scopus 로고    scopus 로고
    • Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32
    • L Warnich PN Meissner RJ Hift JH Louw CJ van Heerden AE Retief Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32 Hum Genet 97 1996 690 692
    • (1996) Hum Genet , vol.97 , pp. 690-692
    • Warnich, L1    Meissner, PN2    Hift, RJ3    Louw, JH4    van Heerden, CJ5    Retief, AE6


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