Objective: We used single-strand conformational polymorphism (SSCP). To screen for mutations/polymorphisms in exon 4 of the apolipoprotein C III in 45 patients with hypertriglyceridemia and 46 control individuals, single-strand conformational polymorphism was investigated using restriction endonuclease and amplification refractory mutations systems (ARMS). Results: SSCP identified six patterns corresponding to six genotypes. We confirmed that the different genotypes result form the two polymorphic sites at positions 3175 and 3206 of the apo C III gene. Only three of four possible haplotypes were found in the study population. This resulted in the identification of 6 of the 10 possible genotypes. Conclusions: SSCP is a useful method to screen for both known and unknown mutations/polymophims and should have increassing applications in clinical laboratories involved with the study of genetic markets of a wide variety of diseases.
- amplification refractory mutation system
- genetic variants
- restriction endonuclease digestion
- single-strand conformational polymorphisms