Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus

J C Murray; K A Mills; C M Demopulos; S Hornung; A G Motulsky

doi:10.1073/pnas.81.11.3486

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Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus

Journal article

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Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus

J C Murray, K A Mills, C M Demopulos, S Hornung and A G Motulsky

Proceedings of the National Academy of Sciences - PNAS, Vol.81(11), pp.3486-3490

06/1984

DOI: 10.1073/pnas.81.11.3486

PMCID: PMC345533

PMID: 6328518

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Abstract

Four additional DNA variants (restriction enzyme fragment length polymorphisms) making a total of eight polymorphic sites at the human albumin locus have been identified. These eight sites were found after screening 689 of 20,000 nucleotides by using cDNA probes for albumin with 27 different restriction enzymes. One in 85 nucleotides was therefore potentially polymorphic. The average nucleotide diversity between any two randomly chosen chromosomes was calculated to be 1/500. We observed marked linkage disequilibrium between the eight variants. Only 7 haplotypes among 256 possible combinations were observed in 160 chromosomes from Caucasoids, Blacks, and Asians. Two haplotypes were found in all three human races, indicating that their origin predated human racial divergence. The three rarest haplotypes appear to represent recombinational events between the more common haplotypes. All crossovers occurred in the same general region. Studies of several nonhuman primates indicated that the origin of one haplotype predated the human-African ape divergence. Although it is not possible to rule out maintenance of this tight linkage by selection or fixation, it is suggested that the limited number of haplotypes at the chromosomal site of the albumin gene near the centromere of chromosome 4 may be the result of decreased recombination.

Biological Evolution

Primates - genetics

Animals

DNA Restriction Enzymes

Pedigree

Base Sequence

Humans

Serum Albumin - genetics

Chromosomes, Human, 4-5

Genetic Linkage

Polymorphism, Genetic

Details

Title: Subtitle: Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus
Creators: J C Murray
K A Mills
C M Demopulos
S Hornung
A G Motulsky
Resource Type: Journal article
Publication Details: Proceedings of the National Academy of Sciences - PNAS, Vol.81(11), pp.3486-3490
DOI: 10.1073/pnas.81.11.3486
PMID: 6328518
PMCID: PMC345533
NLM abbreviation: Proc Natl Acad Sci U S A
ISSN: 0027-8424
eISSN: 1091-6490
Publisher: National Academy of Sciences; United States
Grant note: GM 07454 / NIGMS NIH HHS GM 15253 / NIGMS NIH HHS
Language: English
Date published: 06/1984
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025401802771

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