Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.
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.
al-Imara
L
L
Dermatology Research Group, Northwick Park Hospital, Harrow, Middlesex.
Richards
A J
AJ
Eady
R A
RA
Leigh
I M
IM
Farrall
M
M
Pope
F M
FM
D002893:Chromosomes, Human, Pair 3; D003094:Collagen / Q000235:genetics*; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
D005819:Genetic Markers; D003094:Collagen; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific