Title of article :
The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark
Author/Authors :
H. K. Jensen، نويسنده , , L. G. Jensen، نويسنده , , P. S. Hansen، نويسنده , , O. Faergeman، نويسنده , , N. Gregersen، نويسنده ,
Issue Information :
روزنامه با شماره پیاپی سال 1996
Abstract :
Mutations in the gene for the low density lipoprotein (LDL) receptor cause the autosomal dominant disease familial hypercholesterolemia (FH), the prevalence of which is about 0.2% in most populations. By PCR-SSCP analysis and direct sequencing, we identified the receptor-negative Trp23-Stop LDL receptor mutation (FH Cincinnati-5) in 10 of 63 FH probands and the receptor-defective Trp66-Gly LDL receptor mutation (FH French Canadian-4) in another 10 of the 63 FH probands. These two mutations thus account for 30% of diagnosed FH families in Denmark. Comparison of the mean lipid concentrations (unadjusted and adjusted for age), including serum total cholesterol and LDL-cholesterol, showed no significant differences between the two groups of FH heterozygote probands (cholesterol: 10.7 mmol/l vs. 10.7 mmol/l) and between the probands and 16 and 22 non-proband family members with the Trp23-stop (cholesterol: 10.1 mmol/l) and Trp66-Gly (cholesterol: 10.7 mmol/l) mutations, respectively.
Keywords :
familial hypercholesterolemia , Low density lipoprotein receptor , mutations , Single-strand conformationpolymorphisms
Journal title :
Atherosclerosis
Journal title :
Atherosclerosis