Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population

Alharbi, Khalid Khalaf; Khan, Imran Ali; Syed, Rabbani

doi:10.6026/97320630081255

Cited by 4 publications

(4 citation statements)

References 10 publications

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“…The DNA was dissolved in Tris–EDTA buffer at 100 ng/μL and stored at −80°C prior to the molecular analysis. C677T ( MTHFR ) and G1691A ( FVL ) mutations were screened using PCR and restriction fragment length polymorphism analysis performed with previously published primers and restriction enzymes ( 21 ) (Table 1 ). PCR amplification conditions were as follows; 35 cycles of denaturation at 95°C for 5 min, followed by annealing at 68°C for 30 s (C677T) or 56°C for 30 s (G1691A), and extension at 72°C for 5 min.…”

Section: Methodsmentioning

confidence: 99%

Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations

et al. 2015

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We aimed to scrutinize the extent to which single amino acid substitutions in the MTHFR and factor V Leiden (FVL) genes affect the risk of gestational diabetes mellitus (GDM) in pregnant women of South Indian descendant. This case–control study was implemented once the ethical approval has been obtained. Overall, 237 women were recruited in this study: 137 had been diagnosed with GDM and the remaining 100 women were used as normal controls or non-GDM. The diagnosis of GDM was confirmed with biochemical analysis, i.e., GCT and oral glucose tolerance tests. Five milliliters of peripheral blood was collected and used for biochemical and molecular analyses. DNA was isolated, and genotyping for MTHFR (C677T) and FVL (G1691A) mutations was performed using PCR–RFLP. FVL (G1691A) locus was not polymorphic in the investigated sample. There was no significant difference in the allele and genotype frequencies of C677T polymorphism between GDM and non-GDM women (p = 0.8892).

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Section: Methodsmentioning

confidence: 99%

Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations

et al. 2015

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“…Genotyping for the rs6020 (G1691A) was performed by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) followed by agarose gel electrophoresis. Amplification of the fragment was performed with forward primer 5'-TCAGGCAGGAAC AACACCAT-3' and reverse primer 5'-GGTTACTTCAAGGACAAAATACCTGTAA-3' which has been published Alharbi et al [11]. Primers were synthesized by Bioserve biotechnology (Hyderabad, India) for PCR analysis.…”

Section: Dna and Amino Acid Substitution Mutationmentioning

confidence: 99%

Association of G1691A Mutation in Women with Breast Cancer

Tabassum¹,

Saddick²

2014

J Data Mining Genomics Proteomics

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Objectives: More evidence indicates that the G1691A mutation in the factor V Leiden (FVL) gene might be associated with susceptibility to breast cancer in humans being. Breast cancer is gradually becoming the most common cancer in Indian women, pathogenesis can be influenced by single nucleotide polymorphisms and several studies in the past have identified different genetic variants in the human genome that showed strong or moderate evidence of associations. FVL is a missense mutation, result of an amino acid substitution of glutamine for arginine at 506 position in the factor V molecule at nucleotide 1691 substitutes G for A, resulting in a mutant protein resistant to the anticoagulant action of activated protein C. Methods: We aimed to investigate the role of G1691A mutation in FVL gene and breast cancer women from south Indian population. One hundred cases and 100 controls were included in this study. DNA was separated and PCR-RFLP was performed followed by 2% electrophoresis. Results: The results of this study indicates that FVL mutation is associated with breast cancer patients (p<0.05). Conclusion: Our results concluded that FVL mutation has a role in breast cancer women and these results are supported by prior studies.

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“…Moreover, blood coagulation factor IX is also assigned at the sub-telomeric region of the X chromosome long arm i.e. Xq27.1-2 [12]. There are many other mutations linked with the Xq28 region of the X chromosomes.…”

Section: Introductionmentioning

confidence: 99%

Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies

Bogari

2016

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly observed in human males. It is a genetic disorder affecting the red blood cells. The diagnosis of G6PD is usually based on blood analysis and there is no specific molecular or genetic test. The complete gene sequence of G6PD is known for different ethnicities. Known single nucleotide polymorphism (SNP) associated with G6PD is available in the public databases. Hence, robust, fast and efficient sequencing of G6PD is critical in disease diagnosis. The application of next generation sequencing (NGS) with its high reliability is useful in G6PD diagnosis.

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Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population

Cited by 4 publications

References 10 publications

Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations

Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations

Association of G1691A Mutation in Women with Breast Cancer

Next generation sequencing (NGS) in glucose-6-phosphate dehydrogenase (G6PD) deficiency studies

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