Linkage analysis of the 5q31-33 candidate region for asthma in 240 UK families
GENES AND IMMUNITY
Authors: Holloway, JW; Lonjou, C; Beghe, B; Peng, Q; Gaunt, TR; Gomes, I; Hall, IP; Dewar, JC; Wilkinson, J; Thomas, NS; Holgate, ST; Morton, NE
Abstract
Atopy and asthma are complex genetic diseases resulting from the interactions of a number of genetic and environmental factors. We had previously reported allelic association between the IL9 marker on chromosome 5q31-33 and atopy. In order to further investigate the role of susceptibility genes on 5q31-33 in the development of atopy and asthma we have studied 240 UK families comprising 131 families selected at random, 60 multiplex families with affected sib pairs, and 49 single proband nuclear families. Polymorphic markers on 5q31-33 were genotyped and both single and multipoint linkage analysis was undertaken using the BETA program. We have used both affection status and quantitative scores for atopy and asthma for phenotypic variables, combining data into scores for asthma and atopy. The strongest suggestion of linkage using multipoint analysis was centred around D5S410 with a maximum Lod of 1.946 at location 171.3 cM and a standard error of 3.3 for the asthma quantitative score. There was no evidence of linkage with atopy, the atopy quantitative score or total serum IgE. Genes and Immunity (2001) 2, 20-24.
GENETIC REFINEMENT OF THE CHROMOSOME-5Q LATTICE CORNEAL-DYSTROPHY TYPE-I LOCUS TO WITHIN A 2-CM INTERVAL
JOURNAL OF MEDICAL GENETICS
Authors: GREGORY, CY; EVANS, K; BHATTACHARYA, SS
Abstract
Lattice corneal dystrophy type I (LCDI) is a relatively common corneal dystrophy which can cause severe visual impairment. Recent studies have suggested a genetic localisation for the disease to chromosome 5q. Independent genetic linkage analysis in a six generation LCDI pedigree confirmed linkage to the 5q region bounded by marker loci IL9 and D5S436 suggesting genetic homogeneity. A maximum two point lod score of 7.51 (theta = 0.03) was obtained with marker D5S393. Multipoint and haplotype data positioned the disease between loci D5S393 and D5S396 corresponding to a genetic distance of 2cM, thus refining linkage sufficiently to allow for physical mapping of this disorder.