Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16

Olivier Le Saux, Zsolt Urban, Harald H.H. Göring, Katalin Csiszar, F. Michael Pope, Allan Richards, Ivonne Pasquali-Ronchetti, Sharon Terry, Lionel Bercovitch, Mark G. Lebwohl, Martijn Breuning, Peter Van Den Berg, Lilian Kornet, Jurg Ott, Paulus T.V.M. De Jong, Arthur A.B. Bergen, Charles D. Boyd

Research output: Contribution to journalArticle

49 Scopus citations

Abstract

We have performed linkage analysis on 21 families with pseudoxanthoma elasticum (PXE) using 10 polymorphic markers located on chromosome 16p13.1. The gene responsible for the PXE phenotype was localized to an 8-cM region of 16p13.1 between markers D16S500 and D16S3041 with a maximum lod score of 8.1 at a recombination fraction of 0.04 for marker D16S3017. The lack of any locus heterogeneity suggests that the major predisposing allele for the PXE phenotype is located in this region. Haplotype studies of a total of 36 PXE families identified several recombinations that further confined the PXE gene to a region (< 1 cM) between markers D16S3060 and D16S79. This PXE locus was identified within a single YAC clone and several overlapping BAC recombinants. From sequence analysis of these BAC recombinants, it is clear that the distance between markers D16S3060 and D16S79 is about 820 kb and contains a total of nine genes including three pseudogenes. We predict that mutations in one of the expressed genes in the locus will be responsible for the PXE phenotype in these families.

Original languageEnglish (US)
Pages (from-to)1-10
Number of pages10
JournalGenomics
Volume62
Issue number1
DOIs
StatePublished - Nov 15 1999
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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