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Scientific articles

15 results

Research article Open access

A Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) test to Detect the Common Mutation (35delG) in the Connexin-26 Gene

Mehmet Simsek, Nadia Al-Wardy, Mazin · Sultan Qaboos University Medical Journal · 2025 · 10.18295/2075-0528.2573

… s developed for the 35delG mutation. A mutagenesis primer generated an EcoN I site in a short (87 bp) DNA fragment amplifi ed from the connexin-26 gene. The EcoN I site is generated only if the 35delG mutation is present. Thus, a restriction fragment length polymorphism (RFLP) analysis of the amplifi ed DNA fragment wi …

Research article Open access

Association of FTO rs9939609 SNP with Obesity and Obesity- Associated Phenotypes in a North Indian Population

Jai Prakash, Balraj Mittal, Apurva Srivastava et al. · Oman Medical Journal · 2016 · 10.5001/omj.2016.20

… n-obese patients. Genotyping of the FTO rs9939609 single nucleotide polymorphism (SNP) was analyzed using Restriction Fragment Length Polymorphism Analysis of PCR-Amplified Fragments. We also measured participants fasting glucose and insulin levels, lipid profile, percentage body fat, fat mass and fat free mass. Result …

Research article Open access

Association of vitamin D receptor gene start codon (Fok1) polymorphism with high myopia

Sandhya Annamaneni, Chintala Hema Bindu, Kasu Prasad Reddy et al. · Oman Journal of Ophthalmology · 2011 · 10.4103/0974-620x.83654

… samples were analyzed for VDR gene Fok1 (exon 2 start codon) polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Results: High myopia patients revealed decrease in the frequency of ff homozygotes (8.3%) as compared to control group (14.0%), with a corresponding in …

Research article Open access

Association of angiotensin-converting enzyme, CYP46A1 genes polymorphism with senile cataract

Syed Tasleem Raza, Shania Abbas, Anu Chandra et al. · Oman Journal of Ophthalmology · 2017 · 10.4103/ojo.ojo_40_2015

… 46A1 (rs 754203) genes polymorphism in cases and controls were evaluated by polymerase chain reaction and restriction fragment length polymorphism. Results: This study included 103 senile cataract cases (55 were males and 48 were females) and 102 controls (53 were males and 49 were females). Mean age of cases in this s …

Research article Open access

The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test

Aliya Al Ansari, Samira Al-Rawahi, Taher Al-Nabhani et al. · Sultan Qaboos University Medical Journal · 2025 · 10.18295/2075-0528.1518

… n Oman and develop a rapid molecular-based test. Methods: Intronic primers were designed to amplify short fragments (193–454 base pairs [bp]) from coding exons (2–20) and screen for mutations using direct sequencing (DS). Results: Two mutations known to cause severe disease were identified in two infants. One was a cod …

Research article Open access

Expression Levels and Genetic Polymorphism of Scavenger Receptor Class B Type 1 as a Biomarker of Type 2 Diabetes Mellitus

Mohd Wamique, D. Himanshu, Wahid Ali · Sultan Qaboos University Medical Journal · 2025 · 10.18295/squmj.4.2021.042

… DM and each healthy individual. Total proteins were determined using western blot analysis. Additionally, restriction fragment length polymorphism analysis was achieved to detect the incidence of genetic polymorphisms. Results: A total of 600 individuals, including 300 individuals with T2DM and 300 healthy individuals, …

Research article Open access

A Genetic Clue to T2DM in Bangladesh: The TCF7L2 rs12255372 (G/T) Variant

Syed Azmal Mahmood, Md Fariduddin, Laila Anjuman Banu et al. · Oman Medical Journal · 2025 · 10.5001/omj.2025.45

… were included in the study. The rs12255372 polymorphism was genotyped using the polymerase chain reaction-restriction fragment length polymorphism technique. Results: An allelic odds ratio (OR) of 3.29 (95% CI: 1.78–6.05; p < 0.001) was found for the minor T allele of rs12255372, significantly increasing the T2DM risk. …

Research article Open access

ApaI and Fok1 Variants of Vitamin D Receptor Gene Associated with Metabolic Syndrome Among Jordanian Women

Manar Fayiz Atoum · Oman Medical Journal · 2024 · 10.5001/omj.2024.47

… les, and VDR gene polymorphisms Apa1, Taq1, Bsm1, and Fok1 were analyzed by polymerase chain reaction and restriction fragment length polymorphism. Results: There was a significant difference between MS patients and control in terms of body mass index (34.3±3.1 vs. 28.1±2.5), glycated hemoglobin (5.9±1.1 vs. 4.6±1.2), …

Research article Open access

The Relation of Haplotype ATP-binding Cassette B1 and Glutathione S-transferase P1 A313G Genes with Hematological Toxicity in Indonesian Breast Cancer Patients Receiving Chemotherapy

Siti Syarifah, Tri Widyawati, Dita Hasni et al. · Oman Medical Journal · 2022 · 10.5001/omj.2022.36

… ytes. Single nucleotide polymorphism (SNP) ABCB1 and GSTP1 were examined by the polymerase chain reaction-restriction fragment length polymorphism method. Data on patient characteristics and the incidence of hematological toxicity after each of the three cycles of chemotherapy were obtained from the medical records. Th …

Research article Open access

Promoter Hypermethylation of Wnt/β-catenin Signaling Pathway Inhibitor WIF-1 Gene and its Association with MTHFR C677T Polymorphism in Patients with Colorectal Cancer

Ahmad Jalilvand, Mohammad Soleiman Soltanpour · Oman Medical Journal · 2020 · 10.5001/omj.2020.49

… kit and was treated by sodium bisulfite. Methylation-specific PCR was used for methylation analysis, and restriction fragment length polymorphism PCR to analyze the C677T polymorphism of the MTHFR gene. Results: The frequency of WIF1 promoter DNA methylation was significantly higher in cancerous tissue than adjacent n …

Research article Open access

The Association of a Rare Variant of -93, -53 Promoter Gene Polymorphisms of Lipoprotein Lipase Gene with Obesity and Insulin Resistance

Jai Prakash, Balraj Mittal, Apurva Srivastava et al. · Oman Medical Journal · 2018 · 10.5001/omj.2018.74

… ing of the LPL gene -93 and -53 promoter gene polymorphisms were analyzed using polymerase chain reaction-restriction fragment length polymorphism. Results: A substantial association was observed for -93 gene polymorphism of the LPL gene with obesity, while -53 promoter gene polymorphism showed association with IR. Con …

Research article Open access

The C-565T Polymorphism (rs2422493) of the ATP-binding Cassette Transporter A1 Gene Contributes to the Development and Severity of Coronary Artery Disease in an Iranian Population

Khalil Mahmoodi, Koorosh Kamali, Habib Ghaznavi et al. · Oman Medical Journal · 2018 · 10.5001/omj.2018.57

… Genotyping of C-565T promoter polymorphism was performed using the polymerase chain reaction followed by restriction fragments length polymorphism analysis methods. Lipid profile was determined by routine colorimetric methods. Results: The distribution of ABCA1 C-565T genotypes (p = 0.035) and alleles (p = 0.017) was …

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