Analbuminemia Zonguldak: Case report and mutational analysis

Gianluca Caridi, Monica Dagnino, Buket Dalgic, Odul Egritas, Banu Sancak, Monica Campagnoli, Lorenzo Dolcini, Monica Galliano, Lorenzo Minchiotti

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives: To document a new case of the rare disease analbuminemia and to study the molecular defect responsible for the trait. Design and 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.

Original languageEnglish
Pages (from-to)288-291
Number of pages4
JournalClinical Biochemistry
Volume41
Issue number4-5
DOIs
Publication statusPublished - Mar 2008

Keywords

  • Analbuminemia
  • DNA sequence
  • Heteroduplex analysis
  • Human serum albumin
  • Single-strand conformation polymorphism

ASJC Scopus subject areas

  • Clinical Biochemistry

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