title: Analbuminemia Zonguldak: case report and mutational analysis.
abstract: OBJECTIVE
  To document a new case of the rare disease analbuminemia and to study the molecular defect responsible for the trait.
  
  
  METHODS
  Single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing of the 14 exons and their flanking intron regions, as well as of the 5' and 3' UTR, of the albumin gene were conducted on DNA extracted from peripheral blood samples.
  
  
  RESULTS
  DNA sequence analysis showed that the proband was homozygous, and his parents were both heterozygous, for a previously unreported 5180 T-->A transversion. This silent mutation creates at position 5180-81 a new AG dinucleotide, the invariant sequence encountered in all eukaryotic intron acceptor splice sites. This aberrant splice site near the 3'end of exon 5 might alter the normal splicing mechanism. No other mutation was found in the examined regions of the gene.
  
  
  CONCLUSIONS
  Our results define a new molecular defect in the albumin gene.
authors.affiliation: Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Largo G Gaslini, 5, Genova, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Caridi
authors.forename: Monica
authors.initials: M
authors.lastname: Dagnino
authors.forename: Buket
authors.initials: B
authors.lastname: Dalgic
authors.forename: Odul
authors.initials: O
authors.lastname: Egritas
authors.forename: Banu
authors.initials: B
authors.lastname: Sancak
authors.forename: Monica
authors.initials: M
authors.lastname: Campagnoli
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Dolcini
authors.forename: Monica
authors.initials: M
authors.lastname: Galliano
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Minchiotti
mesh_terms: D001483:Base Sequence; D001796:Blood Protein Disorders / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D020180:Heteroduplex Analysis; D006801:Humans; D007223:Infant; D008297:Male; D018807:Polymorphism, Single-Stranded Conformational / Q000235:genetics; D012709:Serum Albumin / Q000235:genetics*
chemical_list: D012709:Serum Albumin