A Fully Integrated and Automated Detection System for Single Nucleotide Polymorphisms of UGT1A1 and CYP2C19

Author(s):  
Norio Ureshino ◽  
Naoko Aragane ◽  
Tomomi Nakamura ◽  
Masaru Ide ◽  
Sakiko Mochinaga ◽  
...  
Lab on a Chip ◽  
2022 ◽  
Author(s):  
Nan Li ◽  
Yuanyue Zhang ◽  
Minjie Shen ◽  
Youchun Xu

Hereditary hearing loss is one of the most common human neurosensory disorder, and there is a great need for early intervention methods such as genetically screening newborns. Single nucleotide polymorphisms...


2019 ◽  
Vol 16 (1) ◽  
pp. 84-94
Author(s):  
Aakash Reddy ◽  
Katari Venkatesh ◽  
Sayani Sahu ◽  
Pallavi Sinha Roy ◽  
Konkona Datta ◽  
...  

Background: The Fat mass and obesity-associated gene (FTO) and its involvement in weight gain and obesity is well-known. However, no reports have been published on the Indian population regarding the relationship between single nucleotide polymorphisms (SNPs) in its intronic region and obesity. The aim of this pilot study was to evaluate the frequency and association of SNPs in intron-1 of the FTO gene in obese and overweight Indian adults. Methods: This study group consisted of 80 adults, aged 23.5 ± 8.9 yr, with a mean BMI of 28.8 ± 6.2 kg/m2. Genomic DNA was isolated, exons1-3 & intron1 of FTO were amplified using polymerase chain reaction and sequenced by ABI sequencing detection system. The reported SNPs rs1420185, rs8050136, rs1121980 and rs55872725 were checked for their presence or absence in this group of the adult Indian population. Results: No mutations were found in the exonic sequence of FTO, however, the association of rs1420185, rs8050136, rs1121980 and rs55872725 SNPs was identified in this population. The genotypic frequency at FTO rs8050136 was 32.2% for C>A, at rs55872725 it was 45.7% for C>T, at rs1420185 it was 27.1% for T>C and at rs1121980 it was 30.5% for G>A. All four SNPs in combination were observed in 6 participants (10.2%), all of whom were found to be either obese or overweight. Conclusion: These findings indicate that Indians with these SNPs are most likely to be at increased risk of obesity.


Lab on a Chip ◽  
2016 ◽  
Vol 16 (1) ◽  
pp. 86-95 ◽  
Author(s):  
Bin Zhuang ◽  
Junping Han ◽  
Guangxin Xiang ◽  
Wupeng Gan ◽  
Shuaiqin Wang ◽  
...  

A fully integrated and automated microsystem consisting of disposable plastic chips for DNA extraction and PCR coupled with a reusable glass array-CE chip for rapid pharmacogenetic testing.


2005 ◽  
Vol 51 (11) ◽  
pp. 2025-2030 ◽  
Author(s):  
Alison Castley ◽  
Melinda Higgins ◽  
John Ivey ◽  
Cyril Mamotte ◽  
David C Sayer ◽  
...  

Abstract Background: As the genetic basis of many human diseases is being discovered, there is increasing need for the detection of single-nucleotide polymorphisms/mutations in medical laboratories. We describe an innovative approach that combines PCR amplification directly on whole blood and real-time detection PCR technology (WB-RTD PCR). Methods: We compared WB-RTD PCR with the method for extracted DNA-RTD PCR for the detection of mutations in the prothrombin (n = 94), factor V Leiden (n = 49), and hemochromatosis (n = 22) genes. Mutation detection on the Roche LightCycler was based on use of fluorescence resonance energy transfer (FRET) probes and melting curve analysis. We also compared the WB-RTD PCR on the LightCycler and the ABI Prism™ 7700 sequence detection system with minor groove– binding nonfluorescent quencher probes. Results: We obtained complete concordance between both methods in assigning genotypes. We also demonstrated that the WB-RTD PCR method can be performed on real-time PCR instruments from Applied Biosystems and the LightCycler. Omission of the need for DNA extraction and gel electrophoresis allowed substantial labor and cost savings with this method. Conclusion: This approach has applications for testing other medically relevant single-nucleotide polymorphisms.


2018 ◽  
Vol 11 (1) ◽  
pp. 149-157
Author(s):  
Gomaa Mostafa-Hedeab ◽  
Alaa Abdelhamed Mohamed ◽  
Gamal Thabet ◽  
Dina Sabry ◽  
Randa Fayez Salam ◽  
...  

Objective: to study the effect of MATE 1, MATE 2 and OCT1 genetic variants on metformin action in recently diagnosed Egyptian Type-2 diabetic patients. Patients & Methods: One hundred type-2 DM patients and forty healthy control were included in the study. All patients were recently diagnosed receiving no treatment before participation in the study. Three single nucleotide polymorphisms (SNPs) were Genotyped using real time PCR, Sequence Detection System: MATE1 (rs2252281), OCT1 coding variants (rs12208357) (SLC22A1) and MATE2 (rs12943590). Results: there is a significant differences between control and patients regarding MATE2 (p<0.05), OCT1 (P<0.005) distribution; in which GG (54%), CC (62%) is the most prevalent among studied patients respectively. MATE1 SNP; Patients with CC alleles and TT allele had better HBA1C (8.577±.2924), (8.7±.25) compared to CT allele patients (9.584±.3023) (P= .04) (P=.019) respectively. OCT1 SNP; CG allele patients showed better RBS (251±9.565) compared to CC allele (294.42±8.476) (p=0.004). Logistic regression test showed that RBS (p=.00001), ALT (p=.0001) and TLC (p=.025) are independent factors affecting blood glucose. Conclusion: MATE1 and OCT1 SNPs may have a potential role in metformin efficacy.


2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan

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