Identification of a locus on chromosome 1q44 for familial cold urticaria - PubMed (original) (raw)

Identification of a locus on chromosome 1q44 for familial cold urticaria

H M Hoffman et al. Am J Hum Genet. 2000 May.

Abstract

Familial cold urticaria (FCU) is a rare autosomal dominant inflammatory disorder characterized by intermittent episodes of rash with fever, arthralgias, conjunctivitis, and leukocytosis. These symptoms develop after generalized exposure to cold. Some individuals with FCU also develop late-onset reactive renal amyloidosis, which is consistent with Muckle-Wells syndrome. By analyzing individuals with FCU from five families, we identified linkage to chromosome 1q44. Two-point linkage analysis revealed a maximum LOD score (Zmax) of 8.13 (recombination fraction 0) for marker D1S2836; multipoint linkage analysis identified a Zmax of 10. 92 in the same region; and haplotype analysis defined a 10.5-cM region between markers D1S423 and D1S2682. Muckle-Wells syndrome was recently linked to chromosome 1q44, which suggests that the two disorders may be linked to the same locus.

PubMed Disclaimer

Similar articles

Cited by

References

    1. Clin Exp Dermatol. 1993 Jul;18(4):338-41 - PubMed
    1. Arch Dermatol. 1993 Mar;129(3):343-6 - PubMed
    1. Proc Natl Acad Sci U S A. 1994 Nov 22;91(24):11684-8 - PubMed
    1. Ann Allergy Asthma Immunol. 1995 Apr;74(4):295-8 - PubMed
    1. Am J Hum Genet. 1996 Jun;58(6):1347-63 - PubMed

Publication types

MeSH terms

Substances

LinkOut - more resources