Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. ADPKD is genetically heterogeneous with two genes identified: PKD1 (16p13.3, 46 exons) and PKD2 (4q21, 15 exons). Eighty five percent of the patients with ADPKD have at least one mutation in the PKD1 gene and fifteen percent of the patients have one mutation in PKD2 gene. Direct sequencing of one patient and his sequence of PKD1 gene demonstrated a missense mutation GCC----CCC substitution in exon 13 with cause change amino acid of Alanine to Proline at codon 1029. Three brothers have deletion mutation in exon 15, one patient missense mutation GGC---GCC in exon 19 which cause change amino acid of Glycine to Alanine at codon 2530. Molecular diagnostics of ADPKD relies on mutation screening of PKD1 and PKD2, which is complicated by extensive allelic heterogeneity and the presence of six highly homologous sequences of PKD1. PCR strategy was used to screen sequence variants with heteroduplex analysis and several affected individuals were discovered to have clusters of base pair substitutions in exons 13 and 19 with del 20 pb (3601-3620) in exon15. arabic 14 English 81
Refaat Tabagh, Ahmed Zaid(1-2018)

Background: Phenylketonuria (PKU) is one of the most common inborn errors of amino acids metabolism. It is an autosomal recessive disease that is caused by mutations in phenylalanine hydroxylase (PAH) gene. In the North Africa and Eastern Mediterranean region, E280K missense mutation and c.1055del.G frameshift mutation in PAH gene are one of the most common pathogenic mutations seen in PKU patients. Materials and Methods: In this study, we developed molecular protocols for rapid screening of the PKU patients for these two mutations. These protocols are based on hydrolysis probe real-time polymerase chain reaction technique using allele-specific probes labeled with 6-carboxyfluorescein (FAM) for wild-type (WT) and hexachloro-6-carboxyfluorescein (HEX) for mutant genotypes and Black Hole Quencher 1 as a quencher and high-resolution melting analysis using EvaGreen saturating dye. Results: There was complete accordance between the developed protocols in differentiating genotypes and they proved to be rapid, sensitive, and efficient for the detection and differentiation between WT, mutant, and heterozygous genotypes of the E280K and c.1055del.G mutations. Conclusions: These protocols allow easy molecular screening of the mutations studied among the families of affected people, especially for premarital screening. arabic 27 English 170
Abdulla Bashein(1-2017)

Objectives: Tobacco use in all its forms represents a very well-known preventable risk factor for cardiovascular diseases (CVD). Alteration of plasma lipids levels is one of the mechanisms by which it causes CVD. In addition, there are controversial reports linking tobacco use with diabetes. This case-control study is aiming to investigate the interrelationship between tobacco use and BMI, lipid profile, and plasma glucose in Libyans residing in Tripoli region. Methods: The study was conducted on 200 healthy male subjects, including, 50 non-smokers aged 40.98±8.07, 50 cigarette smokers aged 41.32±7.39, 50 water-pipe users aged 42.04±7.39, and 50 snuff inhalers aged 39.36±7.00. BMI was estimated as (kg/m 2), lipid profile and fasting plasma glucose were estimated in triplicate by enzymatic colorimetric method and expressed as (mg/dL). Results: Our results showed that BMI is significantly higher in tobacco users than non-smokers (P 0.0001). Total cholesterol and triacylglycerols are significantly higher in tobacco users (P 0.0001). HDL is significantly higher in non-smokers (P 0.0001). LDL not affected by tobacco use (P 0.32). Fasting plasma glucose significantly higher in tobacco users (P 0.0001). Conclusions: In conclusion, tobacco use affects the BMI, lipid profile, and glucose which are components of the metabolic syndrome in the Libyan males population. arabic 31 English 133
H Alemam, Abdulla Bashein, (1-2015)