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)

Bulgular: 791 çocuktan (421 erkek, 370 kız, ortalama yaş 6.5) alınan örnekler test edildi. Tüm çocuklar hayatlarının ilk iki yılında 4 doz tam hücreli boğmaca aşısı ile aşılanmıştı. Yakın zamanda gerçekleşen ve gerçekleşmeyen boğmaca enfeksiyonu sıklığı sırasıyla% 4.8 ve% 2.5 idi. Çocukların% 76.1’i tespit edilemeyecek düzeyde IgG’ye sahipti. Sonuç: Çalışma boğmaca enfeksiyonun okula başlayan çocuklar arasında sık olarak geçirildiğini göstermiştir. Bu artış, okula başlama yaşındaki çocukların% 76.1’inde serumda boğmacaya karşı antikor düzeyinin tespit edilemeyecek düzeyde olmasının dolaylı bir sonucu olması ile açıklanmıştır. arabic 26 English 62
Suleiman Abusrewil, Abdulla Bashein, (1-2021)