Corresponding of Genetic polymorphism the apolipoprotein B R3500Q gene mutation with possible Familial Hypercholesterolemia (FH) pateints in Sulaymaniyah
DOI:
https://doi.org/10.25130/tjps.v23i10.560Keywords:
R3500Q, Specific-Primer-PCR , ScaI .Abstract
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).
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