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Familial Hypercholesterolemia (FH) is a genetic disorder, an expression of a defect in the gene that is responsible for the production of LDL-C receptor. The current study was designed to determine the FH patients in the city of Sulaymaniyah for both sexes. The study included 213 samples, the number of males was 99 and the number of females was 114, both sexes ranged from (30-79) years. The results of cholesterol, triglyceride, high density lipoprotein (HDL-C), and lowdensity lipoprotein (LDL-C) in patients with hypercholesterolemia showed highly significant (P ˂ 0.01) for cholesterol and triglyceride in patients with compared healthy people. (HDL-C and LDL-C) showed a significant decrease (P ˂ 0.01) in the concentration of HDL-C in patients with hypercholesterolemia compared to their level of concentration in healthy individuals, in relation to low-density lipoprotein (LDL-C) -C is the other (P ˂ 0.01) in the concentration level in patients with hypercholesterolemia compared to the level of concentration of healthy.As concerns the effect of hypercholesterolemia on coronary heart disease, the results showed a significant increase (P ˂ 0.01) in cholesterol, triglycerides and LDL-C with a significant decrease in HDL-C concentration in people with heart disease compared with healthy people.

Familial Hypercholesterolemia (FH) is autosomal codominant disease Characterized by elevated LDL Cholesterol and Early Coronary Artery disease. (FH) is commonly caused by mutations in the three genes: The Low-Density Lipoprotein Receptor (LDLR), apolipoprotein B (apoB), Proprotein Convertase Subtilisin ⁄ Kexin type 9 (PCSK9). The current study aimed to identify mutations in people with homozygous genotypes that affect protein binding causing defects and to ensure that these conditions are diagnosed through important molecular tests through the early intervention of the apoptoprotein gene (apoB) for the R3500Q mutagenic of healthy individuals not associated with hypercholesterolemia (FH) in Sulaymaniyah through the conduct of the polymer chain reaction system and Restrication enzyme genotyping. The study included determination of the polymorphism of genes associated with familial hypercholesterolemia (FH). The molecular study included the genetic analysis of (50) samples of the R3500Q mutation of the apoB gene, after adding the ScaI enzyme, showed there three genotype: were four cases found Homozygous to be one bundle (S+ ⁄ S+) (143 bp), a one case compound heterozygous (S- ⁄ S+) model are two bundle ( 143 bp, 90 bp) and a fourty-five cases had mutant  Homozygous (S- ⁄ S-)  model  of  the  one  bundle  (90 bp), all the R3500Q mutations were found on the same allele.                                           the study also included the R3500Q mutation of the apoB gene and Its relation to the studied traits, there was a significant increase in the 0.01 for cholesterol, TG and LDL for patients with hypercholesterolemia was mean (235.61 mg ⁄ dl, 321.83 mg ⁄ dl and 330.90 mg ⁄ dl) respectively , compared to healthy pateints with mean (172.15 mg ⁄ dl , 109.88 mg ⁄ dl and 77.1 mg  ⁄ dl).

Familial Hypercholesterolemia (FH) is autosomal codominant disease Characterized by elevated LDL Cholesterol and Early Coronary Artery disease. (FH) is commonly caused by mutations in the three genes: The Low-Density Lipoprotein Receptor (LDLR), apolipoprotein B (apoB), Proprotein Convertase Subtilisin ⁄ Kexin type 9 (PCSK9). The current study aimed to identify mutations in people with homozygous genotypes that affect protein binding causing defects and to ensure that these conditions are diagnosed through important molecular tests through the early intervention of the apoptoprotein gene (apoB) for the R3500Q mutagenic of healthy individuals not associated with hypercholesterolemia (FH) in Sulaymaniyah through the conduct of the polymer chain reaction system and Restrication enzyme genotyping. The study included determination of the polymorphism of genes associated with familial hypercholesterolemia (FH). The molecular study included the genetic analysis of (50) samples of the R3500Q mutation of the apoB gene, after adding the ScaI enzyme, showed there three genotype: were four cases found Homozygous to be one bundle (S+ ⁄ S+) (143 bp), a one case compound heterozygous (S- ⁄ S+) model are two bundle ( 143 bp, 90 bp) and a fourty-five cases had mutant  Homozygous (S- ⁄ S-)  model  of  the  one  bundle  (90 bp), all the R3500Q mutations were found on the same allele.                                           the study also included the R3500Q mutation of the apoB gene and Its relation to the studied traits, there was a significant increase in the 0.01 for cholesterol, TG and LDL for patients with hypercholesterolemia was mean (235.61 mg ⁄ dl, 321.83 mg ⁄ dl and 330.90 mg ⁄ dl) respectively , compared to healthy pateints with mean (172.15 mg ⁄ dl , 109.88 mg ⁄ dl and 77.1 mg  ⁄ dl).   http://dx.doi.org/10.25130/tjps.23.2018.166

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