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Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia
Journal article   Open access   Peer reviewed

Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia

J C Murray, C M Demopulos, R M Lawn and A G Motulsky
Proceedings of the National Academy of Sciences - PNAS, Vol.80(19), pp.5951-5955
10/1983
DOI: 10.1073/pnas.80.19.5951
PMCID: PMC390195
PMID: 6310605
url
https://europepmc.org/articles/pmc390195View
Published (Version of record) Open Access

Abstract

By using cDNA probes for the human albumin gene, four restriction enzyme fragment length polymorphisms (RFLPs) were discovered that were transmitted by codominant autosomal inheritance. Among Caucasians, the gene frequencies were 0.04/0.96 for Msp I/5', 0.43/0.57 for Hae III/3', 0.44/0.56 for Hae III/5', and 0.04/0.42/0.54 for Pst I/5'. These common variants provide a marker for chromosome 4 (q11-q13). A calculation of the extent of DNA variation at the albumin locus revealed that 1/95 nucleotide sites was affected by a RFLP, a figure similar to that found in the globin system. Restriction enzyme fragment study of the DNA of a human analbuminemic individual revealed no gross structural rearrangements of the albumin locus. The exact nature of abnormality will require more study.
Genes Gene Frequency Humans Serum Albumin - genetics Serum Albumin - deficiency Male Polymorphism, Genetic Genetic Variation Globins - genetics DNA Restriction Enzymes Genes, Dominant Base Composition Pedigree Alleles Female Chromosomes, Human, 4-5

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