TY - JOUR
T1 - Single-strand conformational polymorphisms (SSCP)
T2 - Studies of the genetic polymorphisms of exon 4 of apolipoprotein C III
AU - Beheshti, Iraj
AU - Hanson, Naomi Q.
AU - Copeland, Kenneth R.
AU - Garg, Uttam
AU - Tsai, Michael Y
PY - 1995/6
Y1 - 1995/6
N2 - 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.
AB - 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.
KW - amplification refractory mutation system
KW - genetic variants
KW - hypertriglyceridemia
KW - restriction endonuclease digestion
KW - single-strand conformational polymorphisms
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U2 - 10.1016/0009-9120(94)00083-8
DO - 10.1016/0009-9120(94)00083-8
M3 - Article
C2 - 7554250
AN - SCOPUS:0029083821
SN - 0009-9120
VL - 28
SP - 303
EP - 307
JO - Clinical Biochemistry
JF - Clinical Biochemistry
IS - 3
ER -