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A two-stage, genome-wide screen for susceptibility loci in primary Raynaud's phenomenon

Susol, E; MacGregor, AJ; Barrett, JH; Wilson, H; Black, C; Welsh, K; ... Worthington, J; + view all (2000) A two-stage, genome-wide screen for susceptibility loci in primary Raynaud's phenomenon. Arthritis and Rheumatism , 43 (7) 1641 - 1646.

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Abstract

OBJECTIVE: To identify chromosomal regions containing genes involved in the susceptibility to primary Raynaud's phenomenon (RP). METHODS: Six extended families with multiple individuals affected with primary RP (n = 37) were examined for linkage in a 2-stage, whole-genome screen, using a total of 298 microsatellite markers. RESULTS: Multipoint, nonparametric linkage analysis identified 5 areas of possible linkage, with a nominal level of significance of P < or = 0.05. Analysis of a finer map of markers in these regions defined the regions of linkage as 21.4 cM on 6q13-6q23.3 (D6S261; P = 0.0004), 10.2 cM on 7p22-7p15 (D7S664; P = 0.014), 1.6 cM on 9p23-9p22 (D9S156; P = 0.0075), 5.1 cM on 17p13.1-17p12 (D17S1791; P = 0.036), and 11.8 cM on Xp11.4-Xp11.23 (DXS8054; P = 0.006). Three potential candidate genes map to these regions: the beta subunit of the muscle acetylcholine receptor and the serotonin 1B and 1E receptors. CONCLUSION: These results provide evidence of the presence and location of genes that are involved in the genetic susceptibility to primary RP

Type:Article
Title:A two-stage, genome-wide screen for susceptibility loci in primary Raynaud's phenomenon
Additional information:UI - 20358576 LA - eng RN - 0 (Receptors, Cholinergic) RN - 0 (Receptors, Serotonin) RN - 0 (serotonin 1B receptor) RN - 0 (serotonin 1E receptor) RN - 9007-49-2 (DNA) PT - Journal Article DA - 20000808 IS - 0004-3591 SB - AIM SB - IM CY - UNITED STATES JC - 90M
Keywords:Arthritis, SUSCEPTIBILITY, Acetylcholine, Adolescence, adult, analysis, As, beta, Candidate Gene, Child, Preschool, cholinergic, Chromosome Mapping, classification, CM, DNA, epidemiology, families, family, Female, GENE, Genes, genetic, Genetic Predisposition to Disease, Genetic Screening, genetics, Genome, Human, individuals, infant, LEVEL, Linkage, Linkage (Genetics), LOCATION, Male, Methods, MICROSATELLITE, microsatellite markers, Microsatellite Repeats, muscle, Pedigree, Raynaud's Disease, Receptor, receptors, Receptors, Cholinergic, Serotonin, REGION, regions, Research, RP, Serotonin, STATE, STATES, Support, Non-U.S.Gov't, UK, United States
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Medical Sciences > Medicine (Division of)

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