Molecular Diagnosis of Familial Hypercholesterolemia

Background and objectives: Familial hypercholesterolemia (FH) is anautosomal disorder characterized by increased levels of total cholesterol andlow density lipoprotein cholesterol. The FH clinical phenotype has beenassociated with increased risk of coronary heart disease and premature death.The mutation in LDLR gene in most cases is responsible for FH phenotype.Furthermore, other gene mutations such as apolipoprotein B- gene may causesimilar results. Preliminary research indicates that the FH phenotype is alsoinfluenced by other genetic and environmental Factors; therefore, routineclinical analysis such as total cholesterol and LDL-C levels in serum, for earlydiagnosis and treatment, are not sufficient. Molecular diagnosticinvestigations, because of high specifity and sensitivity near %100,administered for determining the prevalent mutations in LDLR (and probablyother genes) are needed for exact diagnosis and accurate therapy. Currently,PCR-SSCP and southern blotting techniques are among the commontechniques that could detect major mutations in gene.Because of wide diversity in kinds of mutations in LDLR gene, werecommend, first, determining the proband's mutation and kinds of mutation,then, performing routine test based on type of mutation.Key words: Familial hyperlipoproteinemia, LDL-R gene molecular diagnosis,mutation, Molecular Diagnostic Method