Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome

Katarzyna Lapicka-Bodzioch, Marek Bodzioch, Matthias Krüll, Danuta Kielar, Mario Probst, Beata Kiec, H. Andrikovics, Alfred Böttcher, Jaroslav Hubacek, Charalampos Aslanidis, Norbert Suttorp, Gerd Schmitz

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Familial high-density lipoprotein (HDL)-deficiency syndromes are caused by mutations of the ABCA1 gene, coding for the ATP-binding cassette transporter 1. We have developed a homogeneous assay based on 52 primer sets to amplify all 50 ABCA1 exons and approximately 1 kb of its promoter. The assay allows for convenient amplification of the gene from genomic DNA and easy mutational analysis through automatic sequencing. It obviates the need to use mRNA preparations, which were difficult to handle and posed a risk to miss splice junction or promoter mutations. The application of the test to the molecular analysis of a new patient with familial HDL-deficiency (Tangier disease) led to a discovery of two novel ABCA1 mutations: C2665del and C4457T.

Original languageEnglish
Pages (from-to)42-48
Number of pages7
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1537
Issue number1
DOIs
Publication statusPublished - Jul 27 2001

Fingerprint

Mutation
DNA Mutational Analysis
ATP Binding Cassette Transporter 1
Hypoalphalipoproteinemias
Tangier Disease
Genes
Gene Amplification
Exons
Messenger RNA
Familial HDL deficiency

Keywords

  • ABCA1
  • Familial high-density lipoprotein deficiency
  • Genetic testing
  • Tangier disease

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine
  • Biophysics

Cite this

Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome. / Lapicka-Bodzioch, Katarzyna; Bodzioch, Marek; Krüll, Matthias; Kielar, Danuta; Probst, Mario; Kiec, Beata; Andrikovics, H.; Böttcher, Alfred; Hubacek, Jaroslav; Aslanidis, Charalampos; Suttorp, Norbert; Schmitz, Gerd.

In: Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1537, No. 1, 27.07.2001, p. 42-48.

Research output: Contribution to journalArticle

Lapicka-Bodzioch, Katarzyna ; Bodzioch, Marek ; Krüll, Matthias ; Kielar, Danuta ; Probst, Mario ; Kiec, Beata ; Andrikovics, H. ; Böttcher, Alfred ; Hubacek, Jaroslav ; Aslanidis, Charalampos ; Suttorp, Norbert ; Schmitz, Gerd. / Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome. In: Biochimica et Biophysica Acta - Molecular Basis of Disease. 2001 ; Vol. 1537, No. 1. pp. 42-48.
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