title: Splicing mutation in human hereditary analbuminemia.
abstract: We have identified a structural defect in the serum albumin gene in human analbuminemia. Sequence determination of 1.1 kilobases (kb) of the 5' regulatory region and of 6 kb across exonic regions revealed a single AG-to-GG mutation within the 3' splice site of intron 6 in the defective gene of an analbuminemic individual. In an in vitro assay on the RNA transcript this mutation causes a defect in splicing of the intron 6 sequence and in subsequent ligation of the exon 6-exon 7 sequences. Using polymerase-amplified genomic DNA and allele-specific oligodeoxynucleotide probes, we have also shown that the sequence of this intron 6/exon 7 splice junction is normal in a different, unrelated analbuminemic individual. Analbuminemia in humans is therefore the result of one of multiple defects in our genome.
authors.affiliation: Department of Biochemistry, University of California, Riverside 92521.
authors.forename: D E
authors.initials: DE
authors.lastname: Ruffner
authors.forename: A
authors.initials: A
authors.lastname: Dugaiczyk
mesh_terms: D001483:Base Sequence; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012326:RNA Splicing; D012333:RNA, Messenger / Q000378:metabolism*; D012709:Serum Albumin / Q000172:deficiency* / Q000235:genetics
chemical_list: D012333:RNA, Messenger; D012709:Serum Albumin