scholarly journals Pharmacogenomic evaluation of single nucleotide polymorphisms associated with oxaliplatin-induced peripheral neuropathy: a preliminary study

2016 ◽  
Vol 27 ◽  
pp. iv46
Author(s):  
F. Nichetti ◽  
G. Infante ◽  
R. Miceli ◽  
R. Berenato ◽  
M. Caporale ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Preliminary Study

A proposed HLA-B*27 screening method for ankylosing spondylitis detection based on tag-single nucleotide polymorphisms: a preliminary study

2021 ◽  
Author(s):  
Gabriela Angélica Martínez-Nava ◽  
Yessica Zamudio-Cuevas ◽  
Ninoska Aleida Terrazas-Ontiveros ◽  
Karina Martínez-Flores ◽  
Rolando Espinosa-Morales ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Screening Method ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Preliminary Study

scholarly journals Association of single nucleotide polymorphisms in CACNA 1A/CACNA 1C/CACNA 1H calcium channel genes with diabetic peripheral neuropathy in Chinese population

2018 ◽  
Vol 38 (3) ◽  
Author(s):  
Lin Sun ◽  
Jun Ma ◽  
Qian Mao ◽  
Yun-Long Yang ◽  
Lin-Lin Ma ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Single Nucleotide Polymorphisms ◽  
Calcium Channel ◽  
Diabetic Peripheral Neuropathy ◽  
Chinese Population ◽  
Control Group ◽  
Case Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pcr Rflp

The present study was conducted to explore the correlations between single nucleotide polymorphisms (SNPs) in the calcium channel CACNA 1A, CACNA 1C, and CACNA 1H genes and diabetic peripheral neuropathy (DPN) amongst the Chinese population. In total, 281 patients diagnosed with type 2 diabetes participated in the present study. These patients were divided into the case group, which was subdivided into the DPN (143 cases) and the non-DPN groups (138 cases). Subsequently, 180 healthy individuals that had undergone routine health examinations were also recruited and assigned to the control group. PCR-restriction fragment length polymorphism (PCR-RFLP) was used to detect the genotype and allele frequencies of CACNA 1A, CACNA 1C, and CACNA 1H genes; logistic regression analysis to investigate the association of gene polymorphisms with DNP. Gene–gene interactions were then detected by generalized multifactor dimensionality reduction (GMDR). The results revealed that CACNA 1A rs2248069 and rsl6030, CACNA 1C rs216008 and rs2239050, and CACNA 1H rs3794619, and rs7191246 SNPs were all associated with DPN, while rs2248069, rsl6030, rs2239050, and rs7191246 polymorphisms were attributed to the susceptibility to DPN. It was also observed that the optimal models were three-, four- and five-dimensional models with a prediction accuracy of 61.05% and the greatest consistency of cross-validation was 10/10. In summary, these findings demonstrated that the SNPs in the CACNA 1A, CACNA 1C, and CACNA 1H genes were involved in the pathophysiology of DPN. In addition, polymorphisms in the CACNA 1A, CACNA 1C, and CACNA 1H genes and their interactions also had effects on DPN.

A PRELIMINARY STUDY ON CYTOCHROME 2E1 GENE SINGLE NUCLEOTIDE POLYMORPHISMS AMONG ETHNIC FULANI IN NORTH WESTERN NIGERIA

2021 ◽  
pp. 17-19
Author(s):  
Muhammad Tukur Umar ◽  
Shaibu Oricha Bello
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Consensus Sequence ◽  
Individual Variability ◽  
Nucleotide Position ◽  
Nucleotide Polymorphisms ◽  
Metabolizing Enzymes ◽  
Single Nucleotide ◽  
Cyp 2E1 ◽  
Preliminary Study ◽  
North Western

Single nucleotide polymorphisms of xenobiotics metabolizing enzymes are critical in inter-individual variability in drug response. Cytochrome P450 2E1, which is highly polymorphic belongs to these enzymes and ethnicity signicantly determine their expressions. Volunteers from Fulani extractions were recruited through their expressed consents. Five mls of blood sample was collected in EDTA container used for DNA extraction, PCR and sequencing. The consensus sequence generated for individual participants were located to the Cyp 2E1 gene and spanned both target rs 2031920 to rs 3813867 polymorphism region. Chromatograms were validated with Bioedit software. Three (3) volunteers (15%) revealed new rs 147346389 A>C polymorphism at nucleotide position 4029. Also, three (3) other volunteers (15%) revealed rs 35806299 A>G polymorphism at position 3661. One (5%) new (unlabelled) A>C polymorphism was revealed at position 3906.

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