Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients

A. B. Cefalù, C. M. Barbagallo, E. Sesti, R. Caldarella, F. Polizzi, G. Marino, D. Noto, M. Rolleri, S. Travali, G. Scalisi, A. Notarbartolo, A. Corsini, S. Bertolini, M. R. Averna

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo B gene. The most-characterized mutation is a G>A transition at nucleotide 10,708 that results in the substitution of arginine by glutamine at codon 3500 (Apo B Arg3500Gln). Two other mutations are caused by a C>T transition, one at nucleotide 10,800 (Apo B Arg3531Cys) and the other at nucleotide 10,707 (apo B Arg3500Trp). In the present study we describe three new Italian cases of familial defective apolipoprotein B-100 (Apo B Arg3500Gln), one from the Liguria region and two from Sicily, and the haplotype of the apo B gene co-segregating with the mutation. By screening two groups of probands, clinically diagnosed as having Familial Hypercholesterolemia (700 from mainland Italy and 305 from Sicily), the prevalence of familial defective apolipoprotein B-100 due to Arg3500Gln was found to be very low (0.28% and 0.65%, respectively). The Arg3531Cys mutation was not detected in any proband. In the three new families with Arg3500Gln mutation in the present study and in one previously described in Italy, the mutation was associated with a unique apo B haplotype, which is consistent with data previously reported for Caucasian patients [XbaI-, MspI+, EcoRI-, presence of the 5' signal peptide insertion (Ins) allele, and the 49-repeat allele of the 3'-VNTR].

Original languageEnglish
Pages (from-to)151-154
Number of pages4
JournalClinical and Experimental Medicine
Volume1
Issue number3
Publication statusPublished - 2001

Fingerprint

Apolipoproteins B
Hyperlipoproteinemia Type II
Haplotypes
Apolipoprotein B-100
Mutation
Sicily
Nucleotides
Codon
Italy
Genes
Alleles
Protein Sorting Signals
Hypercholesterolemia
Glutamine
Arginine
Screening
Substitution reactions

Keywords

  • Apolipoprotein B gene
  • Familial defective apolipoprotein B-100
  • Haplotype
  • Population screening

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Clinical Biochemistry

Cite this

Cefalù, A. B., Barbagallo, C. M., Sesti, E., Caldarella, R., Polizzi, F., Marino, G., ... Averna, M. R. (2001). Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients. Clinical and Experimental Medicine, 1(3), 151-154.

Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients. / Cefalù, A. B.; Barbagallo, C. M.; Sesti, E.; Caldarella, R.; Polizzi, F.; Marino, G.; Noto, D.; Rolleri, M.; Travali, S.; Scalisi, G.; Notarbartolo, A.; Corsini, A.; Bertolini, S.; Averna, M. R.

In: Clinical and Experimental Medicine, Vol. 1, No. 3, 2001, p. 151-154.

Research output: Contribution to journalArticle

Cefalù, AB, Barbagallo, CM, Sesti, E, Caldarella, R, Polizzi, F, Marino, G, Noto, D, Rolleri, M, Travali, S, Scalisi, G, Notarbartolo, A, Corsini, A, Bertolini, S & Averna, MR 2001, 'Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients', Clinical and Experimental Medicine, vol. 1, no. 3, pp. 151-154.
Cefalù AB, Barbagallo CM, Sesti E, Caldarella R, Polizzi F, Marino G et al. Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients. Clinical and Experimental Medicine. 2001;1(3):151-154.
Cefalù, A. B. ; Barbagallo, C. M. ; Sesti, E. ; Caldarella, R. ; Polizzi, F. ; Marino, G. ; Noto, D. ; Rolleri, M. ; Travali, S. ; Scalisi, G. ; Notarbartolo, A. ; Corsini, A. ; Bertolini, S. ; Averna, M. R. / Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients. In: Clinical and Experimental Medicine. 2001 ; Vol. 1, No. 3. pp. 151-154.
@article{bed7e76428ea4ee593cd4511f73b6d87,
title = "Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients",
abstract = "Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo B gene. The most-characterized mutation is a G>A transition at nucleotide 10,708 that results in the substitution of arginine by glutamine at codon 3500 (Apo B Arg3500Gln). Two other mutations are caused by a C>T transition, one at nucleotide 10,800 (Apo B Arg3531Cys) and the other at nucleotide 10,707 (apo B Arg3500Trp). In the present study we describe three new Italian cases of familial defective apolipoprotein B-100 (Apo B Arg3500Gln), one from the Liguria region and two from Sicily, and the haplotype of the apo B gene co-segregating with the mutation. By screening two groups of probands, clinically diagnosed as having Familial Hypercholesterolemia (700 from mainland Italy and 305 from Sicily), the prevalence of familial defective apolipoprotein B-100 due to Arg3500Gln was found to be very low (0.28{\%} and 0.65{\%}, respectively). The Arg3531Cys mutation was not detected in any proband. In the three new families with Arg3500Gln mutation in the present study and in one previously described in Italy, the mutation was associated with a unique apo B haplotype, which is consistent with data previously reported for Caucasian patients [XbaI-, MspI+, EcoRI-, presence of the 5' signal peptide insertion (Ins) allele, and the 49-repeat allele of the 3'-VNTR].",
keywords = "Apolipoprotein B gene, Familial defective apolipoprotein B-100, Haplotype, Population screening",
author = "Cefal{\`u}, {A. B.} and Barbagallo, {C. M.} and E. Sesti and R. Caldarella and F. Polizzi and G. Marino and D. Noto and M. Rolleri and S. Travali and G. Scalisi and A. Notarbartolo and A. Corsini and S. Bertolini and Averna, {M. R.}",
year = "2001",
language = "English",
volume = "1",
pages = "151--154",
journal = "Zeitschrift für Die Gesamte Experimentelle Medizin",
issn = "1591-8890",
publisher = "Springer-Verlag Italia",
number = "3",

}

TY - JOUR

T1 - Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients

AU - Cefalù, A. B.

AU - Barbagallo, C. M.

AU - Sesti, E.

AU - Caldarella, R.

AU - Polizzi, F.

AU - Marino, G.

AU - Noto, D.

AU - Rolleri, M.

AU - Travali, S.

AU - Scalisi, G.

AU - Notarbartolo, A.

AU - Corsini, A.

AU - Bertolini, S.

AU - Averna, M. R.

PY - 2001

Y1 - 2001

N2 - Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo B gene. The most-characterized mutation is a G>A transition at nucleotide 10,708 that results in the substitution of arginine by glutamine at codon 3500 (Apo B Arg3500Gln). Two other mutations are caused by a C>T transition, one at nucleotide 10,800 (Apo B Arg3531Cys) and the other at nucleotide 10,707 (apo B Arg3500Trp). In the present study we describe three new Italian cases of familial defective apolipoprotein B-100 (Apo B Arg3500Gln), one from the Liguria region and two from Sicily, and the haplotype of the apo B gene co-segregating with the mutation. By screening two groups of probands, clinically diagnosed as having Familial Hypercholesterolemia (700 from mainland Italy and 305 from Sicily), the prevalence of familial defective apolipoprotein B-100 due to Arg3500Gln was found to be very low (0.28% and 0.65%, respectively). The Arg3531Cys mutation was not detected in any proband. In the three new families with Arg3500Gln mutation in the present study and in one previously described in Italy, the mutation was associated with a unique apo B haplotype, which is consistent with data previously reported for Caucasian patients [XbaI-, MspI+, EcoRI-, presence of the 5' signal peptide insertion (Ins) allele, and the 49-repeat allele of the 3'-VNTR].

AB - Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo B gene. The most-characterized mutation is a G>A transition at nucleotide 10,708 that results in the substitution of arginine by glutamine at codon 3500 (Apo B Arg3500Gln). Two other mutations are caused by a C>T transition, one at nucleotide 10,800 (Apo B Arg3531Cys) and the other at nucleotide 10,707 (apo B Arg3500Trp). In the present study we describe three new Italian cases of familial defective apolipoprotein B-100 (Apo B Arg3500Gln), one from the Liguria region and two from Sicily, and the haplotype of the apo B gene co-segregating with the mutation. By screening two groups of probands, clinically diagnosed as having Familial Hypercholesterolemia (700 from mainland Italy and 305 from Sicily), the prevalence of familial defective apolipoprotein B-100 due to Arg3500Gln was found to be very low (0.28% and 0.65%, respectively). The Arg3531Cys mutation was not detected in any proband. In the three new families with Arg3500Gln mutation in the present study and in one previously described in Italy, the mutation was associated with a unique apo B haplotype, which is consistent with data previously reported for Caucasian patients [XbaI-, MspI+, EcoRI-, presence of the 5' signal peptide insertion (Ins) allele, and the 49-repeat allele of the 3'-VNTR].

KW - Apolipoprotein B gene

KW - Familial defective apolipoprotein B-100

KW - Haplotype

KW - Population screening

UR - http://www.scopus.com/inward/record.url?scp=0035712834&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035712834&partnerID=8YFLogxK

M3 - Article

VL - 1

SP - 151

EP - 154

JO - Zeitschrift für Die Gesamte Experimentelle Medizin

JF - Zeitschrift für Die Gesamte Experimentelle Medizin

SN - 1591-8890

IS - 3

ER -