APO E genotype and familial hypercholesterolaemia

被引:2
作者
Duly, EB
Ward, AJ
Kirk, CW
Nevin, NC
Trinick, TR
Nicholls, DP
Young, IS
Graham, CA
机构
[1] ROYAL VICTORIA HOSP,BELFAST BT12 6BA,ANTRIM,NORTH IRELAND
[2] BELFAST CITY HOSP,DEPT MED GENET,BELFAST BT9 7AD,ANTRIM,NORTH IRELAND
关键词
apo E genotype; familial hypercholesterolaemia;
D O I
10.1177/000456329703400507
中图分类号
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号
1001 ;
摘要
Apolipoprotein E genotypes were measured in 83 patients with familial hypercholesterolaemia (FH) and in 175 blood donor controls. Following DNA extraction from peripheral blood, each sample was genotyped fur the Apo E polymorphism by polymerase chain reaction, No significant differences were found in the levels of the epsilon 2 and epsilon 3 alleles between the two groups, while the epsilon 4 allele was approximately twice as prevalent in the FH patients as in controls (P=0.006, df=1). Of the FH patients, 8.4% were homozygous for the epsilon 4 allele while this genotype was rare in controls (P=0.009, df=1). These results suggest that the epsilon 4 allele is over represented in the FH population and may contribute to increased cholesterol levels and consequent vascular disease.
引用
收藏
页码:534 / 536
页数:3
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