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Genetic variation in human serum albumin: a 313 Lys-->Asn mutation in albumin reading identified by PCR analysis.

Authors :
Savva D
Li B
Kragh-Hansen U
Galliano M
Minchiotti L
Tárnoky AL
Source :
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 1998 Feb 23; Vol. 270 (2), pp. 195-201.
Publication Year :
1998

Abstract

An early case of bisalbuminaemia was reported in this journal in 1964, with the name Albumin Reading added later. Its use in electrophoretic comparisons led to some new variants being described as 'of the Reading type' on this basis alone. Protein sequencing and DNA studies have since found the single point mutation 313 Lys-->Asn common to this type, but the eponymous variant has not, until recently, been available for study. We now report on its characterisation using PCR analysis with allele-specific oligonucleotide primers, a method also applicable to studies of the population distribution of variants. We also draw attention to the need to link clinically-significant effects to individual variants of known structure.

Details

Language :
English
ISSN :
0009-8981
Volume :
270
Issue :
2
Database :
MEDLINE
Journal :
Clinica chimica acta; international journal of clinical chemistry
Publication Type :
Academic Journal
Accession number :
9544457
Full Text :
https://doi.org/10.1016/s0009-8981(97)00208-8