Determination of a T/G polymorphism at nucleotide 3206 of the apolipoprotein C III gene by amplification refractory mutation system

M. Y. Tsai, N. Q. Hanson, K. R. Copeland, I. Beheshti, U. Garg

Research output: Contribution to journalArticlepeer-review

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Abstract

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 Ill 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 Sacl site at nucleotide 3175 in these same individuals and found no significant difference in Sacl 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.

Original languageEnglish (US)
Pages (from-to)2235-2239
Number of pages5
JournalClinical chemistry
Volume40
Issue number12
DOIs
StatePublished - 1994

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