Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32.

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
Read More Add to Saved list
  • Additional Information
    • Source:
      Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
    • Publication Information:
      Publication: Berlin : Springer Verlag
      Original Publication: Berlin, New York, Springer-Verlag.
    • Subject Terms:
      Chromosomes, Human, Pair 14* ; Genetic Linkage*; DNA, Satellite/*genetics ; Microsatellite Repeats/*genetics ; Porphyrias, Hepatic/*genetics; Chromosome Mapping ; Family ; Female ; Genes, Dominant ; Genetic Markers ; Genotype ; Humans ; Male ; Porphyrias, Hepatic/epidemiology ; Prevalence ; South Africa/epidemiology
    • Abstract:
      The gene for variegate porphyria (VP), an autosomal dominant disease with a high prevalance in South Africa, evidently due to a founder effect, was previously mapped to chromosome 14q32. In the current study this localization was evaluated by linkage and haplotype analyses using microsatellite markers spanning a region of more than 20 cM on chromosome 14q32. In many recent studies linkage disequilibrium between disease and marker loci has been utilized to map genes in founder populations, but we could not find any association between VP and the markers used in this study. Our data suggest that the allocation of VP to chromosome 14q32 may be incorrect.
    • References:
      Nat Genet. 1994 Dec;8(4):380-6. (PMID: 7894490)
      Hum Mol Genet. 1993 Oct;2(10):1752. (PMID: 8268950)
      Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. (PMID: 6587361)
      Int J Biochem. 1980;12(5-6):837-53. (PMID: 7450140)
      Hum Hered. 1994 Jul-Aug;44(4):225-37. (PMID: 8056435)
      J Med Genet. 1993 Oct;30(10):857-65. (PMID: 8230163)
      Int J Biochem. 1978;9(12):897-904. (PMID: 744293)
      Nat Genet. 1992 Nov;2(3):204-11. (PMID: 1345170)
      Am J Hum Genet. 1993 Jul;53(1):252-63. (PMID: 8317490)
      Clin Chim Acta. 1978 Oct 2;89(1):25-33. (PMID: 709868)
      Nat Genet. 1995 Jan;9(1):86-91. (PMID: 7704031)
      Hum Mol Genet. 1995 May;4(5):879-86. (PMID: 7633448)
      Cell. 1994 Sep 23;78(6):1073-87. (PMID: 7923357)
      Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):6054-8. (PMID: 8016114)
      J Biol Chem. 1995 Apr 7;270(14):8076-80. (PMID: 7713909)
      Nat Genet. 1994 Jun;7(2 Spec No):246-339. (PMID: 7545953)
      Hum Genet. 1988 Jul;79(3):289-90. (PMID: 3261272)
      Cytogenet Cell Genet. 1995;69(3-4):175-8. (PMID: 7698005)
      Am J Hum Genet. 1995 Jul;57(1):95-102. (PMID: 7611301)
      Hum Mol Genet. 1994 Aug;3(8):1217-25. (PMID: 7987295)
      Am J Hum Genet. 1992 Mar;50(3):559-66. (PMID: 1347194)
      J Clin Invest. 1993 Apr;91(4):1436-44. (PMID: 7682572)
    • Accession Number:
      0 (DNA, Satellite)
      0 (Genetic Markers)
    • Publication Date:
      Date Created: 19960501 Date Completed: 19960726 Latest Revision: 20190722
    • Publication Date:
      20231215
    • Accession Number:
      10.1007/BF02281885
    • Accession Number:
      8655155