Background and Aims: Despite the well‑known association between human papillomavirus (HPV) and cervical cancer, yet there are no available data concerning the prevalence of HPV and its type distribution among Libyan women. The aim of this study was to investigate the prevalence of the most common high‑risk HPV types 16 and 18 among Libyan women in Tripoli and to compare it with the cytological findings of the cervix. Methods: A total of 132 cervical samples were collected from women who sought medical attention at the gynecology outpatient clinic of the Tripoli University Hospital and other gynecology private clinics in Tripoli region. Cervical cytological status was classified according to the Bethesda System 2014. Quantitative polymerase chain reaction was used to facilitate the specific detection of HPV types 16 and/or 18. Results: The cytopathological examination showed that 92.4% of women had normal cervical cytology (n = 122/132) and 7.5% (n = 10/132) of them had cervical lesions. The overall prevalence of the most common oncogenic HPV types was 4.5%, as only six samples (n = 6/132) were confirmed of harboring HPV‑DNA. Concerning the cytological status of the cervix, HPV‑DNA was not found (0%) in women with a normal cervix, and it was present in 60% of women with cervical lesions. The high‑risk HPV type 16 was the exclusive type among our all positive samples, with no detection of HPV type 18 among all our recruited subjects. Conclusion: Even though our findings showed a low overall prevalence of high‑risk HPV types among Libyan women, the burden of HPV 16 among women with cervical lesions highlights the need to raise attention toward expanding research about HPV and adopt measures to prevent cervical cancer by vaccination and national screening program. The introduction of HPV‑DNA testing in cervical cancer management will greatly benefit early‑stage HPV detection and help prevent cervical lesions from progression to cancer. arabic 15 English 81
H Alzaquzi, A Bashein(1-2019)

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)

Abstract: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder of lipid metabolism, associated with elevated levels of low-density lipoprotein-cholesterol (LDLC), which can lead to premature cardiovascular disease and early death. Early diagnosis and initiation of treatment is important to prevent morbidity and mortality. Autosomal dominant hypercholesterolemia (ADH) is largely due to mutations in the low-density lipoprotein receptor gene (LDLR), the apolipoprotein B-100 gene (APOB), or the proprotein convertase subtilisin/kexin type 9 (PCSK9). In this study, genomic DNA of unrelated Libyan individuals with clinically diagnosed (FH) was analyzed by direct sequencing after dependent specific PCR primers amplification and DNA purification. That led to the identification of PCSK9 gene mutations for the first time in Libyan population which was compare to other populations. All 12 exons of PCSK9 gene and boundaries genotyped polymorphisms were sequenced, including leucine repeats coded in exon 1, by fluorescently tagged markers. We identified an allele for the rs67610340 polymorphism: an in-frame deletion, c.61_63delCTG (L8). We also identified another allele rs67610340 polymorphism: an in frame insertion c.61_63InsCTG (L10). The insertion and deletion alleles were both in exon 1 and could be associated with a risk and severity of coronary artery disease (CAD), suggesting a direct effect of PCSK9 on atherogenesis. arabic 11 English 90
Ghada Salem, Ahmed Zaid(1-2017)