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PMID: 7907422 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Molecular and population genetic analysis of allelic sequence diversity at the human beta-globin locus.

Proceedings of the National Academy of Sciences of the United States of America ·Vol. 91 ·No. 5 ·1994-03-01 ·Pages 1805-9

Fullerton SM, Harding RM, Boyce AJ, Clegg JB

Abstract

Allelic sequence polymorphism at the beta-globin locus was investigated in a group of 36 Melanesians. A 3-kilobase fragment containing the gene and its flanking regions was sequenced in 60 normal (beta A) and 12 thalassemic (intron 1, position 5, G-->C) chromosomes. Haplotype relationships between linked polymorphisms were derived by allele-specific PCR amplification and sequencing. Seventeen nucleotide polymorphisms and 2 length variants were identified, and these sites segregated as 17 sequence haplotypes in the normal chromosomes. This haplotype diversity is higher than that expected on the basis of the nucleotide polymorphism observed and is probably due to recombination and gene conversion. Nucleotide diversity at synonymous sites in the sample is 0.14%, suggesting an average age of sequence divergence of approximately 450,000 years, consistent with that expected for a neutrally evolving human nuclear locus.

MeSH Terms
Alleles Base Sequence Biological Evolution Blacks/genetics DNA/genetics Genetic Variation Genetics, Population Globins/genetics Haplotypes/genetics Humans Molecular Sequence Data Multigene Family Polymorphism, Restriction Fragment Length Vanuatu
Chemicals
Globins DNA
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Fullerton S M
Medical Research Council Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, Headington, United Kingdom.
Harding R M
Boyce A J
Clegg J B
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Article Info
Journal
Proceedings of the National Academy of Sciences of the United States of America
Abbr.
Proc Natl Acad Sci U S A
ISSN
0027-8424
DOI
10.1073/pnas.91.5.1805
Published
1994-03-01
Pages
1805-9
Language
English
Region
United States
NLM ID
7505876
PMCID
PMC43252
Subset
IM
Grants
Wellcome Trust · United Kingdom
Databases
GENBANK
L26462, L26463, L26464, L26465, L26466, L26467, L26468, L26469, L26470, L26471, L26472, L26473, L26474, L26475, L26476, L26477, L26478
External Links
PubMed source DOI: 10.1073/pnas.91.5.1805 PMC Full Text View journal details
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