Molecular Diagnosis of Familial Hypercholesterolemia

Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevated levels of total choles-terol and low density lipoprotein. Clinical phenotype of this disease is associated with the increased risk of heart diseases - cardiovascular diseases and early death. Low density lipoprotein receptor gene mutations arising in (LDLR) can cause the outbreak of FH phenotype, and mutations in other genes including apolipoprotein B can also cause the same panel. Since the heredity and mutation are also affected by the environmental factors including diet and other genes, so running routine tests for determination of cholesterol level and LDL because of high sen-sitivity and low specificity is not enough for early diagnosis and timely treatment. Conducting accurate molecular tests for their 100% specificity and sensitivity to determine common mutations in LDLR gene (and probably other genes) and for absolute determination of the disease will reinforce the possibility of treatment. Currently, PCR-SSCP and southern-blotting techniques are the most common molecular methods for studying most of the im-portant mutations. Because of the high diversity of mutation types in LDLR gene, local conduction of experiments and determination of prevalence of mutations and then conduction of routine experiments are suggested based on the types of those mutations.

Familial Hypercholesterolemia; Mutation; Low Density Lipoprotein Receptor (LDLR); Molecular Diagno-sis Method.