Molecular basis and allele specific screening of apolipoprotein CIISt. Michael.
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.
Hegele
R A
RA
Department of Medicine, University of Toronto, Ontario, Canada.
Tu
L
L
Maguire
G F
GF
Connelly
P W
PW
D000483:Alleles; D053304:Apolipoprotein C-II; D001056:Apolipoproteins C / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000032:analysis*; D008040:Genetic Linkage; D006801:Humans; D007525:Isoelectric Focusing; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction
D053304:Apolipoprotein C-II; D001056:Apolipoproteins C; C054300:apolipoprotein C-II (St Michael); D004247:DNA