GENETIC-VARIATION IN HUMAN SERUM-ALBUMIN - A 313-LYS-]ASN MUTATION INALBUMIN READING IDENTIFIED BY PCR ANALYSIS

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 Readi ng type' on this basis alone. Protein sequencing and DNA studies have since found the single point mutation 313 Lys --> Asn common to this t ype, but the eponymous variant has not, until recently, been available for study. We now report on its characterisation using PCR analysis w ith allele-specific oligonucleotide primers, a method also applicable to studies of the population distribution of variants. We also draw at tention to the need to link clinically-significant effects to individu al variants of known structure. (C) 1998 Elsevier Science B.V.