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Molecular basis and allele specific screening of apolipoprotein CIISt. Michael
R A Hegele1, L Tu, G F Maguire
1Department of Medicine, University of Toronto, Ontario, Canada.
Clinical Biochemistry
|October 1, 1992
Abstract:
The DNA basis for a circulating nonfunctional variant apoCII, designated apoCIISt. Michael (CII-S) is a shifted reading frame. We developed two amplification primers to screen for CII-S. One contained wild type apoCII sequence and the other contained the sequence for CII-S. Allele-specific polymerase chain reaction (ASPCR) of the apoCII gene from the CII-S proband and her relatives showed unambiguous identification of heterozygous carriers of the CII-S protein. ASPCR may have general applicability in screening for DNA point mutations that do not alter a restriction site.