Title
Population haplotype analysis and evolutionary relations of the COL2A1 gene
Author
Meulenbelt, I.
Williams, G.J.
Koppele, J.M.T.E.
van Giessen, G.C.D.E.
Slagboom, P.E.
TNO Preventie en Gezondheid
PG
Publication year
1996
Abstract
We have determined the allele frequencies mad pairwise linkage disequilibria of restriction fragment length polymorphisms (RFLPs) distributed over the entire COL2A1 gene (spanning 23 · 6 kb) in a population of unrelated Dutch Caucasians. Pairwise linkage disequilibrium analysis of RFLP sites between exon 5B and 51 indicated a high degree of partly positive (the rare alleles of both loci are associated) and partly negative (the rare allele is associated with the common allele) linkage disequilibrium. The high degree of linkage disequilibrium enabled the assignment of 13 out of 128 possible haplotypes with 7 RFLPs. An evolutionary tree of these haplotypes was derived using a minimum spanning tree approach, indicating at least two ancestral haplotypes. Our data indicate that disease related population studies involving the COL2A1 gene should include a minimum of 4 RFLPs (D9, A9 H33, P51) to obtain 98% of possible haplotypes occurring.
Subject
Biology
collagen type 11
allelism
article
evolution
gene assignment
gene frequency
gene linkage disequilibrium
genetic analysis
haplotype
human
human cell
population genetics
priority journal
Collagen
European Continental Ancestry Group
Evolution, Molecular
Gene Frequency
Genetics, Population
Genotype
Haplotypes
Humans
Linkage (Genetics)
Linkage Disequilibrium
Mutation
Netherlands
Osteoarthritis
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
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TNO identifier
233300
ISSN
0003-4800
Source
Annals of Human Genetics, 60 (3), 189-199
Document type
article