Location of the mutation site in the first two reported cases of analbuminemia.
OBJECTIVE
To find the mutation causing the first two reported cases of analbuminemia.


METHODS
DNA was extracted from blocks of fixed embedded liver. Exons of the albumin gene were amplified and sequenced.


RESULTS
A substitution of C>T in exon 12 was found in both subjects, changing the codon CGA for arginine (aa509) to TGA, a stop codon.


CONCLUSIONS
The data suggest that analbuminemia is the result of widely scattered random mutations.
Ruhoff
Mary S
MS
Research Institute, The Mary Imogene Bassett Hospital (affiliated with Columbia University), Cooperstown, NY 13326, USA.
Greene
Michael W
MW
Peters
Theodore
T
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D001796:Blood Protein Disorders / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D012709:Serum Albumin / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics*; D055815:Young Adult
D012709:Serum Albumin