PMID- 10577922
OWN - NLM
STAT- MEDLINE
DCOM- 20000127
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 65
IP  - 6
DP  - 1999 Dec
TI  - A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome
      I (BBS1) interval to 1 cM.
PG  - 1680-7
AB  - Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disorder; major
      phenotypic findings include dysmorphic extremities, retinal dystrophy, obesity,
      male hypogenitalism, and renal anomalies. In the majority of northern European
      families with BBS, the syndrome is linked to a 26-cM region on chromosome 11q13. 
      However, the finding, so far, of five distinct BBS loci (BBS1, 1q; BBS2, 16q;
      BBS3, 3p; BBS4, 15q; BBS5, 2q) has hampered the positional cloning of these
      genes. We use linkage disequilibrium (LD) mapping in an isolated founder
      population in Newfoundland to significantly reduce the BBS1 critical region.
      Extensive haplotyping in several unrelated BBS families of English descent
      revealed that the affected members were homozygous for overlapping portions of a 
      rare, disease-associated ancestral haplotype on chromosome 11q13. The LD data
      suggest that the BBS1 gene lies in a 1-Mb, sequence-ready region on chromosome
      11q13, which should enable its identification.
FAU - Young, T L
AU  - Young TL
AD  - Faculty of Medicine, Memorial University of Newfoundland, St. John's,
      Newfoundland A1B 3V9, Canada. tlyoung@morgan.ucs.mun.ca.
FAU - Woods, M O
AU  - Woods MO
FAU - Parfrey, P S
AU  - Parfrey PS
FAU - Green, J S
AU  - Green JS
FAU - Hefferton, D
AU  - Hefferton D
FAU - Davidson, W S
AU  - Davidson WS
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (BEST1 protein, human)
RN  - 0 (Bestrophins)
RN  - 0 (Chloride Channels)
RN  - 0 (Eye Proteins)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Alleles
MH  - Bardet-Biedl Syndrome/*genetics
MH  - Bestrophins
MH  - Chloride Channels
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 11/*genetics
MH  - Consanguinity
MH  - England
MH  - Eye Proteins/genetics
MH  - Female
MH  - *Founder Effect
MH  - Genotype
MH  - Haplotypes/genetics
MH  - Humans
MH  - Linkage Disequilibrium/*genetics
MH  - Male
MH  - Neoplasm Proteins/genetics
MH  - Newfoundland and Labrador
MH  - Pedigree
MH  - *Proto-Oncogene Proteins
PMC - PMC1288379
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)63588-5 [pii]
AID - 10.1086/302686 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Dec;65(6):1680-7. doi: 10.1086/302686.