SINGLE-STRAND CONFORMATIONAL POLYMORPHISMS (SSCP) - STUDIES OF THE GENETIC POLYMORPHISMS OF EXON-4 OF APOLIPOPROTEIN-C-III

Objective: We used single-strand conformational polymorphism (SSCP). T o screen for mutations/polymorphisms in exon 4 of the apolipoprotein C III in 45 patients with hypertriglyceridemia and 46 control individua ls, single-strand conformational polymorphism was investigated using r estriction endonuclease and amplification refractory mutations systems (ARMS). Results: SSCP identified six patterns corresponding to six ge notypes. We confirmed that the different genotypes result from the two polymorphic sites at positions 3175 and 3206 of the apo C III gene. O nly three of four possible haplotypes were found in the study populati on. This resulted in the identification of 6 of the 10 possible genoty pes. Conclusions: SSCP is a useful method to screen for both known and unknown mutations/polymorphisms and should have increasing applicatio ns in clinical laboratories involved with the study of genetic markers of a wide variety of diseases.