The detection of somatic mutations in tumours is essential for the understanding of cancer development and targeting therapy. The screening for BRAF V600E mutation is employed in clinical practice in Libya for its prognostic and potentially predictive role in patients with metastatic colorectal carcinoma (mCRC). Using of BRAF mutant DNA and wild type DNA targets, we found that the sensitivity of allelic discrimination-Real Time PCR was applicable. The Real Time PCR assay displayed increased analytical sensitivity in detecting the BRAF V600E mutation. The association of BRAF mutations with clinical and pathological features was assessed using Real Time PCR assay. Qiagen Real Time PCR Platform was utilised using a set of primers. forward 5-GAC. CTC. ACA. GTA. AAA. ATA. GGT. G 3, reverse 5-TCC. AGA. CAA. CTG. TTC. AAA. CTG. A. 3. Our study indicates that Real Time PCR-based assays is convenient to detect the BRAF V600E mutation in CRC and that BRAF mutations screening should not be restricted to selected patients on the basis of the clinicalpathological characteristics. arabic 9 English 63
Abdul M Gbaj, Abdulla Bashein(1-2018)

Introduction: Extended-spectrum β-lactamases (ESBLs), including the AmpC type, are important mechanisms of resistance among Klebsiella pneumoniae and Escherichia coli isolates. Objective: The aim of the study was to investigate the occurrence of AmpC-type β-lactamase producers isolated from two hospitals in Tripoli, Libya. Methods: All clinical isolates (76 K. pneumoniae and 75 E. coli) collected over two years (2013-2014) were evaluated for susceptibility to a panel of antimicrobials and were analyzed phenotypically for the ESBL and AmpC phenotype using E-test and ESBL and AmpC screen disc test. Both ESBL and AmpC-positive isolates were then screened for the presence of genes encoding plasmid-mediated AmpC β-lactamases by polymerase chain reaction (PCR). Results: Of the K. pneumoniae and E. coli tested, 75% and 16% were resistant to gentamicin, 74% and 1.3% to imipenem, 71% and 12% to cefoxitin, 80% and 12% to cefepime, 69% and 22.6% to ciprofloxacin, respectively. None of the E. coli isolates were multidrug resistant compared with K. pneumoniae (65.8%). K. pneumoniae ESBL producers were significantly higher (85.5%) compared with (17.3%) E. coli isolates (P
Abdulaziz Zorgani, Abdulla Bashein(1-2017)

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)