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). 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 from 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/polymorphisms and should have increasing applications in clinical laboratories involved with the study of genetic markers of a wide variety of diseases.
Beheshti
I
I
Department of Laboratory Medicine and Pathology, University of Minnesota Hospital, Minneapolis, USA.
Hanson
N Q
NQ
Copeland
K R
KR
Garg
U
U
Tsai
M Y
MY
D000328:Adult; D001056:Apolipoproteins C / Q000235:genetics*; D001483:Base Sequence; D004277:DNA, Single-Stranded / Q000032:analysis*; D005091:Exons / Q000235:genetics; D005260:Female; D005821:Genetic Techniques; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
D001056:Apolipoproteins C; D004277:DNA, Single-Stranded