Abstract
Study discusses the genetic basis for familial hypercholesterolemia (FH) in some Libyan patients at Tripoli city, examining the distribution of variants that associated with mutations in exon 12 of low density lipoprotein receptor (LDL-R) gene on chromosome 19. Genetic analysis were done using polymerases chain reaction-single strand conformation polymorphism (PCR-SSCP) based on DNA technique, to detect splicing defects of the LDL-R gene in exon 12 on chromosome 19, among some Libyans patients probably have heterozygous familial hypercholesterol-emia (HeFH). The patient’svolunteer’s participants in this study were from Tajjora National Cardiac Center, Endocrine and Diabetic Hospital in Tripoli. The study showed the presence of the splicing defects (1845 +11 C>G)in the exon 12 of the LDL-R gene on chromosome 19 in patients with hyperchol-esterolemia and ischemic heart disease, as they have family history in hypercholesterolemia and other secondary causes to heart disease such as diabetic, hypertension, chest pain, and obesity. Frequency of HeFH Libyan patients was (0.86%), and the significant of statistical analysis were{p-value>0.05}, which considered high according to clinical diagnostic criteria for HeFH. As well as detection the single nucleotide polymorphisms (SNP) (1773C>T) that alter the exon splicing efficiency, because it is associated with an emerging of the functional genetic variants for mutations in exon-12, where results of molecular diagnosis confirmed that occurrence the mutation of (LDL-R gene) relates to premature coronary artery diseases(P-CAD). arabic 35 English 137