Screening Of SNPs In All Coding Regions Of ABCA1 Gene And Research Of SNPs In The Seventh Exon And The Sixteenth Exon

Study BackgroundATP binding cassette transporter (ABCAl) is one member of the ABC family. Since Bodzioch confirmed the mutation of ABCAl gene to be the reason of Tangier disease, it has been identified that ABCAl has important effect to reverse cholesterol transport (RCT) and the generation of high density lipoprotein (HDL) . ABCAl is a limited rate gene of RCT. It correlates closely with atherosclerosis ( AS ) and coronary artery disease (CAD). The SNPs of ABCAl gene widely exist. At present, more than 90 mutations and SNPs of ABCAl which related to disease were found. These mutations mostly distribute in gene coding area, and they are important for the expression of ABCAl gene, the regulation of the level of plasma lipids and the generation of AS and CAD. But the distribution characteristics and function mechanisms of these SNPs have not been affirmed yet and are hotspots in life science.ObjectivesThere are 50 exons in ABCAl gene. Our group screened SNP sites of these exons respectively to find out new SNP and the distribution in the Han People (The exons from 19^th to the 34^th were screened by me). The incidence of R219K site in the...