Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21

摘要: Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, mental retardation, renal anomalies. To detect linkage to BBS loci, 29 families, of mixed but predominantly European ethnic origin, were typed with 37 microsatellite markers on chromosomes 2, 3, 11, 15, 16, 17. The results show that an estimated 36-56% the families are linked 11q13 chromosomal site (BBS1) previously described M. Leppert et al. (1994, Nature Genet. 7, 108-112), gene order cen-D11S480-5 cM-BBS1-3 cM-D11S913/D11S987-qter. A further 32-35% BBS4 locus, reported R. Carmi (1995, Hum. Mol. 4, 9-13) in region 15q22.3-q23, cen-D15S125-5 cM-BBS4-2 cM-D15S131/D15S204-qter. Three consanguineous homozygous for three adjacent chromosome 15 markers, consistent identity descent this region. In one these haplotype analysis supports localization between D15S131 D15S114, distance about 2 cM. Weak evidence 16q21 (BBS2) A. E. Kwitek-Black (1993, 5, 392-396) was observed 24-27% cen-D16S408-2 cM-BBS2-5 cM-D16S400. fourth group at 8%, unlinked all above showing least other locus remains be found. No found corresponding BBS3 V. C. Sheffield 1331-1335), or 17, arguing against involvement patient t(2;17) translocation.