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

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 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.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Beheshti I,Hanson NQ,Copeland KR,Garg U,Tsai MY

doi

10.1016/0009-9120(94)00083-8

subject

Has Abstract

pub_date

1995-06-01 00:00:00

pages

303-7

issue

3

eissn

0009-9120

issn

1873-2933

pii

0009912094000838

journal_volume

28

pub_type

杂志文章

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