Parvin Pishva - Medical Genetic Center, Endocrinology and Metabolism Research Institute (EMRI), Tehran University of Medical Sciences (TUMS), Tehran-Iran
Masoumeh Dehghan Manshadi - Medical Genetic Center, Endocrinology and Metabolism Research Institute (EMRI), Tehran University of Medical Sciences (TUMS), Tehran-Iran
Vadieh Ghodsinezhad - Medical Genetic Center, Endocrinology and Metabolism Research Institute (EMRI), Tehran University of Medical Sciences (TUMS), Tehran-Iran
Arash Kadivari - Medical Genetic Center, Endocrinology and Metabolism Research Institute (EMRI), Tehran University of Medical Sciences (TUMS), Tehran-Iran

Familial hypercholesterolemia (FH) is the most common an autosomal dominant disorder. APoB gene is one of important gene that is related to susceptibility FH. APOB is a large glycoprotein that plays an important role in metabolism of lipoprotein in human’s body. APOB100 is essential in liver for produce Very Low Density Lipoprotein(VLDL) and also APOB100 is a ligand for LDLR that mediate LDL endocytosis. Rs515135 is a single nucleotide polymorphisms that happened at the 5 end of APOB and rs693 is occur in the Exon of this gene.In this study rs693 and rs515135 in gene APOB analyzed in 120 cases with familial hypercholesterolemia and 120 control. Polymorphism was identified by the RFLP-PCR method. The PCR product was digested with specific restriction enzyme for recongnation of each single nucleotide polymorphism. In rs515135 the pattern of enzyme digestion showed that genotype frequency of GG in case group were 68.33%, GA 29.17% and AA 2.5% and 70.83%,27.5% and 1.67% for the controls respectively. In rs693 the genotype frequency of CC in case group were 70%, CT 26.67% and TT 3.33% and the percentage of genotype pattern in control group were 85.83%, 13.33% and 0.83% respectively.For confirmation of the results digestion, some samples were sent for sequencing.According to this study,there was no significant relationship with the occurrence of rs515135 and familiar hypercholesterolemia. Furthermore, It seems the dominant model of T allele occurrence has a protective role in emergence of disease

Familial hypercholestrerolemia (FH) ,APOLIPOPROTEINB ,gene,Single nucleotide polymorphism