Single-strand conformational polymorphisms (SSCP): Studies of the genetic polymorphisms of exon 4 of apolipoprotein C III

Iraj Beheshti, Naomi Q. Hanson, Kenneth R. Copeland, Uttam Garg, Michael Y Tsai

Research output: Contribution to journalArticlepeer-review

2 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)303-307
Number of pages5
JournalClinical Biochemistry
Volume28
Issue number3
DOIs
StatePublished - Jun 1995

Keywords

  • amplification refractory mutation system
  • genetic variants
  • hypertriglyceridemia
  • restriction endonuclease digestion
  • single-strand conformational polymorphisms

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