Mutations in the ABCA1 gene cause familial HDL deficiency syndromes, which is associated with increased risk of atherosclerotic cardiovascular disease. The primary aim of this study was to design a pre-screening method for detection of genetic variations in 22 exons of the ABCA1 gene using a dHPLC system. Temperatures for dHPLC analysis were deducted from melting domain software and defined for each sequence. PCR fragments were run through a dHPLC column and 186 elution profiles different from a wild type elution profile were detected. Subsequent sequencing revealed 148 samples with 13 different genetic variations. The present work shows that the designed dHPLC assays are able to detect existing variation in a target sequence. We detected all previously reported SNPs in the present population as well as two new intron SNPs and one new rare synonymous variant. The detected variations are not found to be responsible for increased HDL-C levels in the general population.
|Uddannelser||Molekylærbiologi, (Bachelor/kandidatuddannelse) Kandidat|
|Udgivelsesdato||1 jun. 2005|
|Vejledere||Ruth Frikke-Schmidt & Anne Tybjærg-Hansen|
- Mutations and SNPs