PMID- 10577921
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 6
DP  - 1999 Dec
TI  - Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small
      region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
PG  - 1672-9
AB  - Bardet-Biedl syndrome (BBS) is a genetically heterogeneous recessive disease
      characterized primarily by atypical retinitis pigmentosa, obesity, polydactyly,
      hypogenitalism, and mental retardation. Despite the presence of at least five
      loci in the human genome, on chromosomes 2q, 3p, 11q, 15q and 16q, as many as 50%
      of the mutations appear to map to the BBS1 locus on 11q13. The recessive mode of 
      inheritance and the genetic heterogeneity of the syndrome, as well as the
      inability to distinguish between different genetic loci by phenotypic analyses,
      have hindered efforts to delineate the 11q13 region as a first step toward
      cloning the mutated gene. To circumvent these difficulties, we collected a large 
      number of BBS pedigrees of primarily North American and European origin and
      performed genetic analysis, using microsatellites from all known BBS genomic
      regions. Heterogeneity analysis established a 40.5% contribution of the 11q13
      locus to BBS, and haplotype construction on 11q-linked pedigrees revealed several
      informative recombinants, defining the BBS1 critical interval between D11S4205
      and D11S913, a genetic distance of 2.9 cM, equivalent to approximately 2.6 Mb.
      Loss of identity by descent in two consanguineous pedigrees was also observed in 
      the region, potentially refining the region to 1.8 Mb between D11S1883 and
      D11S4944. The identification of multiple recombinants at the same position forms 
      the basis for physical mapping efforts, coupled with mutation analysis of
      candidate genes, to identify the gene for BBS1.
FAU - Katsanis, N
AU  - Katsanis N
AD  - Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, 
      TX 77030, USA.
FAU - Lewis, R A
AU  - Lewis RA
FAU - Stockton, D W
AU  - Stockton DW
FAU - Mai, P M
AU  - Mai PM
FAU - Baird, L
AU  - Baird L
FAU - Beales, P L
AU  - Beales PL
FAU - Leppert, M
AU  - Leppert M
FAU - Lupski, J R
AU  - Lupski JR
LA  - eng
GR  - EY11600/EY/NEI NIH HHS/United States
GR  - R01 EY011600/EY/NEI NIH HHS/United States
GR  - EY11780/EY/NEI NIH HHS/United States
GR  - R29 EY011600/EY/NEI NIH HHS/United States
GR  - R01 EY011780/EY/NEI NIH HHS/United States
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
SB  - IM
MH  - Bardet-Biedl Syndrome/*genetics
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Consanguinity
MH  - DNA Mutational Analysis
MH  - Europe
MH  - Female
MH  - Genes, Recessive/genetics
MH  - Genetic Heterogeneity
MH  - Genetic Linkage/*genetics
MH  - Haplotypes/*genetics
MH  - Humans
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Mutation/genetics
MH  - North America
MH  - Pedigree
MH  - Recombination, Genetic
PMC - PMC1288378
EDAT- 1999/12/01 09:00
MHDA- 2000/03/21 09:00
CRDT- 1999/12/01 09:00
PHST- 1999/12/01 09:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/12/01 09:00 [entrez]
AID - S0002-9297(07)63587-3 [pii]
AID - 10.1086/302684 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Dec;65(6):1672-9. doi: 10.1086/302684.