Lapicka-Bodzioch, Katarzyna and Bodzioch, Marek and Kruell, Matthias and Kielar, Danuta and Probst, Mario and Kiec, Beata and Andrikovics, Hajnalka and Boettcher, Alfred and Hubacek, Jaroslav and Aslanidis, Charalampos and Suttorp, Norbert and Schmitz, Gerd (2001) 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. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1537 (1). pp. 42-48. ISSN 0925-4439
Full text not available from this repository. (Request a copy)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. (C) 2001 Published by Elsevier Science B.V.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | BINDING CASSETTE TRANSPORTER-1; TANGIER-DISEASE; CHOLESTEROL; ABCA1; familial high-density lipoprotein deficiency; Tangier disease; genetic testing |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 21 Dec 2021 06:03 |
| Last Modified: | 21 Dec 2021 06:03 |
| URI: | https://pred.uni-regensburg.de/id/eprint/41251 |
Actions (login required)
 |
View Item |
