A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene

Tiziano Zanelli, Alberico L. Catapano, Maurizio R. Averna, Carlo M. Barbagallo, Andrea Liotta, Fabio C. Giardina, Alberto Notarbartolo

Research output: Contribution to journalArticlepeer-review


The apo C-II gene from a patient with apo C-II deficiency has been sequenced after amplification by the polymerase chain reaction (PCR). The sequence analysis revealed a substitution of adenosine for cytosine at position 3, 002 in exon 3, leading to the introduction of a premature stop codon (TAA) at a position corresponding to aminoacid 37 of mature apo C-II. This mutation creates a new Rsa I restriction enzyme site in the apo C-II gene. Amplification of DNA from family members by PCR and digestion with Rsa I established that the patient is a true homozygote for this mutation. The same nucleotide has been substituted for the mutation apo C-IIPadova and apo C-IIBari previously described in two kindreds from Italy. From these data we speculate that base pair 3, 002 in the apo C-II gene may represent a hot spot for mutation.

Original languageEnglish
Pages (from-to)111-118
Number of pages8
JournalClinica Chimica Acta
Issue number2
Publication statusPublished - Jan 31 1994


  • Apo C-II mutation
  • Hyperchylomicronemia syndrome
  • PCR

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry


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