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Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism.

Abstract
Chester porphyria is a distinct type of acute porphyria, which shows a biochemical overlap with acute intermittent and variegate porphyrias and has a dual enzyme deficiency of porphobilinogen deaminase (PBGD) and protoporphyrinogen oxidase. Linkage analysis in an extensive family with Chester porphyria was undertaken using multiple polymorphic markers. A maximum two point Lod score of 5.25 at 0.07 recombination (confidence interval 0.01 to 0.14) was observed with D11S351, which has been localised to 11q23.1. Multipoint linkage analysis confirmed the two point results and gave a maximum Lod score of 7.33 at a distance less than 1 cM proximal to D11S351. PBGD also maps to 11q but four recombinants could be identified from ten informative meioses in this family using a PBGD DNA polymorphism. Thus, a separate locus on 11q appears to be the basis of Chester porphyria.
AuthorsB Norton, W G Lanyon, M R Moore, M Porteous, G R Youngs, J M Connor
JournalHuman genetics (Hum Genet) Vol. 91 Issue 6 Pg. 576-8 (Jul 1993) ISSN: 0340-6717 [Print] Germany
PMID8340112 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Porphyrins
Topics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11
  • Female
  • Genetic Linkage
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Porphyrins (metabolism)

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