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 journalArticle

Abstract

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
Volume224
Issue number2
DOIs
Publication statusPublished - Jan 31 1994

Fingerprint

Apolipoprotein C-II
Nonsense Codon
Genes
Apolipoproteins C
Mutation
Polymerase chain reaction
Amplification
Polymerase Chain Reaction
Cytosine
Homozygote
Base Pairing
Adenosine
Italy
Sequence Analysis
Digestion
Exons
Substitution reactions
Nucleotides
DNA
Enzymes

Keywords

  • Apo C-II mutation
  • Hyperchylomicronemia syndrome
  • PCR

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry

Cite this

Zanelli, T., Catapano, A. L., Averna, M. R., Barbagallo, C. M., Liotta, A., Giardina, F. C., & Notarbartolo, A. (1994). A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene. Clinica Chimica Acta, 224(2), 111-118. https://doi.org/10.1016/0009-8981(94)90176-7

A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene. / Zanelli, Tiziano; Catapano, Alberico L.; Averna, Maurizio R.; Barbagallo, Carlo M.; Liotta, Andrea; Giardina, Fabio C.; Notarbartolo, Alberto.

In: Clinica Chimica Acta, Vol. 224, No. 2, 31.01.1994, p. 111-118.

Research output: Contribution to journalArticle

Zanelli, T, Catapano, AL, Averna, MR, Barbagallo, CM, Liotta, A, Giardina, FC & Notarbartolo, A 1994, 'A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene', Clinica Chimica Acta, vol. 224, no. 2, pp. 111-118. https://doi.org/10.1016/0009-8981(94)90176-7
Zanelli, Tiziano ; Catapano, Alberico L. ; Averna, Maurizio R. ; Barbagallo, Carlo M. ; Liotta, Andrea ; Giardina, Fabio C. ; Notarbartolo, Alberto. / A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene. In: Clinica Chimica Acta. 1994 ; Vol. 224, No. 2. pp. 111-118.
@article{20b2b5dd96694d3aad9d0a01426a521c,
title = "A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene",
abstract = "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.",
keywords = "Apo C-II mutation, Hyperchylomicronemia syndrome, PCR",
author = "Tiziano Zanelli and Catapano, {Alberico L.} and Averna, {Maurizio R.} and Barbagallo, {Carlo M.} and Andrea Liotta and Giardina, {Fabio C.} and Alberto Notarbartolo",
year = "1994",
month = "1",
day = "31",
doi = "10.1016/0009-8981(94)90176-7",
language = "English",
volume = "224",
pages = "111--118",
journal = "Clinica Chimica Acta",
issn = "0009-8981",
publisher = "Elsevier",
number = "2",

}

TY - JOUR

T1 - A new case of apo C-II deficiency with a nonsense mutation in the apo C-II gene

AU - Zanelli, Tiziano

AU - Catapano, Alberico L.

AU - Averna, Maurizio R.

AU - Barbagallo, Carlo M.

AU - Liotta, Andrea

AU - Giardina, Fabio C.

AU - Notarbartolo, Alberto

PY - 1994/1/31

Y1 - 1994/1/31

N2 - 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.

AB - 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.

KW - Apo C-II mutation

KW - Hyperchylomicronemia syndrome

KW - PCR

UR - http://www.scopus.com/inward/record.url?scp=0028217206&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028217206&partnerID=8YFLogxK

U2 - 10.1016/0009-8981(94)90176-7

DO - 10.1016/0009-8981(94)90176-7

M3 - Article

C2 - 8004780

AN - SCOPUS:0028217206

VL - 224

SP - 111

EP - 118

JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

SN - 0009-8981

IS - 2

ER -