Familial defective apolipoprotein B-100: molecular basis, prevalence and clinical features.
Familial defective apo B-100 is an autosomal dominant trait which causes moderate to severe elevation of LDL-cholesterol in the plasma and may predispose the coronary heart disease. The primary defect is a single amino acid change (Arg3500 to Gln), which disrupts the normal binding of LDL to the LDL-receptor. The mutation occurs at an estimated frequency of 1/600 in the normal population and is, therefore one of the most common known single-gene defects causing an inherited abnormality.
Friedl
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First Department of Medicine, Landeskrankenanstalten Salzburg.
D000483:Alleles; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000097:blood / Q000235:genetics*; D008078:Cholesterol, LDL / Q000097:blood / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D012307:Risk Factors
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008078:Cholesterol, LDL