Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus

L al-Imara; A J Richards; R A Eady; I M Leigh; M Farrall; F M Pope

doi:10.1136/jmg.29.6.381

Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus

J Med Genet. 1992 Jun;29(6):381-2. doi: 10.1136/jmg.29.6.381.

Authors

L al-Imara¹, A J Richards, R A Eady, I M Leigh, M Farrall, F M Pope

Affiliation

¹ Dermatology Research Group, Northwick Park Hospital, Harrow, Middlesex.

Abstract

Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullosa.

MeSH terms

Chromosomes, Human, Pair 3*
Collagen / genetics*
Deoxyribonuclease HpaII
Deoxyribonucleases, Type II Site-Specific / metabolism
Epidermolysis Bullosa Dystrophica / genetics*
Female
Genes, Dominant
Genetic Linkage*
Genetic Markers
Humans
Male
Pedigree
Polymorphism, Restriction Fragment Length

Substances

Genetic Markers
Collagen
Deoxyribonuclease HpaII
Deoxyribonucleases, Type II Site-Specific