Genetic characterization of an alloalbumin, albumin Kashmir, using gene amplification and allele-specific oligonucleotides

The molecular basis for albumin Kashmir was studied using the polymerase chain reaction to amplify a DNA fragment containing codon 501 in exon 12 of the human albumin gene. Southern blots of the amplified DNA were hybridized to oligonucleotide probes specific either for the normal allele of albumin...

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Bibliographic Details
Published inBiochemical journal Vol. 266; no. 2; pp. 615 - 617
Main Authors Savva, D, Tárnoky, A L, Vickers, M F
Format Journal Article
LanguageEnglish
Published England 01.03.1990
Subjects
Albumins - genetics
Alleles
Base Sequence
Blotting, Southern
genes
Humans
Molecular Sequence Data
Mutation
Oligonucleotide Probes
Pedigree
Polymerase Chain Reaction
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Summary:The molecular basis for albumin Kashmir was studied using the polymerase chain reaction to amplify a DNA fragment containing codon 501 in exon 12 of the human albumin gene. Southern blots of the amplified DNA were hybridized to oligonucleotide probes specific either for the normal allele of albumin or for albumin Kashmir. The results provide strong evidence that codon 501 in albumin Kashmir is AAG (lysine) instead of GAG (glutamic acid), thus confirming the protein sequences reported. This approach was used to characterize a bisalbuminaemic individual as a carrier for albumin Kashmir. Similar strategies may be devised to study the molecular basis and to identify carriers of other alloalbumins.
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ISSN:0264-6021
1470-8728