Determination of a T/G polymorphism at nucleotide 3206 of the apolipoprotein C III gene by amplification refractory mutation system.
We used the amplification refractory mutation system (ARMS)--a polymerase-chain-reaction-based method--to determine the 3206 T-to-G polymorphism on exon 4 of the apolipoprotein (apo) C III gene. Apo C III is an inhibitor of the enzyme lipoprotein lipase (EC 3.1.1.34). Previous studies have demonstrated that a polymorphism at nucleotide 3175 on exon 4 of this gene is associated with hypertriglyceridemia. We studied 45 hypertriglyceridemic and 46 age-matched controls for the 3206 T-to-G polymorphism. The results showed a significant difference in the distribution of the genotypes with respect to this allele between the hypertriglyceridemic and control individuals. We also determined the presence of the SacI site at nucleotide 3175 in these same individuals and found no significant difference in SacI genotypes between the two groups. This study reaffirms the usefulness of ARMS as a simple, reliable method for detecting mutations and polymorphisms in clinical and epidemiological studies.
Tsai
M Y
MY
Department of Laboratory Medicine and Pathology, University of Minnesota Hospital and Clinic, Minneapolis.
Hanson
N Q
NQ
Copeland
K R
KR
Beheshti
I
I
Garg
U
U
D000328:Adult; D053305:Apolipoprotein C-III; D001056:Apolipoproteins C / Q000097:blood / Q000235:genetics*; D001483:Base Sequence; D008076:Cholesterol, HDL / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D006147:Guanine; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D015228:Hypertriglyceridemia / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D011110:Polymorphism, Genetic; D012016:Reference Values; D013941:Thymine
D053305:Apolipoprotein C-III; D001056:Apolipoproteins C; D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D006147:Guanine; C024408:endodeoxyribonuclease SacI; D015252:Deoxyribonucleases, Type II Site-Specific; D013941:Thymine