scholarly journals Smart approach for cost-effective genotyping of single nucleotide polymorphisms

2021 ◽  
Vol 48 (2) ◽  
Author(s):  
Muhammad U. Ghani ◽  
◽  
Muhammad F. Sabar ◽  
Muhammad Akram ◽  
◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Multiplex Pcr ◽  
Cost Effective ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Modified Method ◽  
Human Dna ◽  
Detection Assay ◽  
Genomic Studies ◽  
Snapshot Minisequencing

Single Nucleotide Polymorphisms (SNPs) are in the prime focus of genomic studies for their probable roles in diagnostics and prognosis of diseases and forensic science. SNaPshot/minisequencing reaction-based genotyping of targeted SNPs is a method of choice due to its fast and reliable detection assay. Here we described smart modifications in minisequencing reaction to make it cost-effective to detect 15 SNPs in a single assay. The target SNPs were amplified in a multiplex PCR from genomic DNA, and these multiplex PCR amplicons were utilized as a template in modified SNaPshot reaction for SNPs identification. The modified protocol was assessed for reproducibility on more than 50 human DNA samples, and it was observed that this modified method is at least five times more productive than the original protocol recommended by the manufacturer. The current smart modifications in SNaPshot reaction were successfully optimized for susceptible asthma SNPs. However, these can be applied for cost-effective genotyping of any type of genomic Single Nucleotide Polymorphisms.

scholarly journals Yeast-based assays for characterization of the functional effects of single nucleotide polymorphisms in human DNA repair genes

PLoS ONE ◽  
2018 ◽  
Vol 13 (3) ◽  
pp. e0193823
Author(s):  
Changshin Kim ◽  
Jinmo Yang ◽  
Su-Hyun Jeong ◽  
Hayoung Kim ◽  
Geun-hee Park ◽  
...  
Keyword(s):  
Dna Repair ◽  
Single Nucleotide Polymorphisms ◽  
Dna Repair Genes ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Human Dna ◽  
Repair Genes

Molecular identification of Allium ochotense and Allium microdictyon using multiplex-PCR based on single nucleotide polymorphisms

2018 ◽  
Vol 59 (6) ◽  
pp. 865-873 ◽  
Author(s):  
Yong-Bog Kim ◽  
Rahul Vasudeo Ramekar ◽  
Seong-Jin Choi ◽  
Byoung-Gon Choi ◽  
Se-Won Kim ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Multiplex Pcr ◽  
Molecular Identification ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Multiplex Assay Based on Single-Nucleotide Polymorphisms for Rapid Identification of Brucella Isolates at the Species Level

2007 ◽  
Vol 73 (22) ◽  
pp. 7331-7337 ◽  
Author(s):  
Julie C. Scott ◽  
Mark S. Koylass ◽  
Michael R. Stubberfield ◽  
Adrian M. Whatmore
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Rapid Identification ◽  
Multiplex Assay ◽  
Species Level ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Zoonotic Infections ◽  
Detection Assay ◽  
Animal Pathogens ◽  
Phylogenetic Framework

ABSTRACT The genus Brucella includes a number of species that are major animal pathogens worldwide and significant causes of zoonotic infections of humans. Traditional methods of identifying Brucella to the species level can be time-consuming, can be subjective, and can pose a hazard to laboratory personnel in the absence of suitable biocontainment facilities. Using a robust phylogenetic framework, a number of single-nucleotide polymorphisms (SNPs) that define particular species within the genus were identified. These SNPs were used to develop a multiplex SNP detection assay, based on primer extension technology, that can rapidly and unambiguously identify an isolate as a member of one of the six classical Brucella species or as a member of the recently identified marine mammal group.

Sign in / Sign up

Export Citation Format

Share Document