Allele-specific sequencing confirms novel prion gene polymorphism in Creutzfeldt-Jakob disease

Neurology ◽  
1991 ◽  
Vol 41 (10) ◽  
pp. 1647-1647 ◽  
Author(s):  
J. K. Fink ◽  
J. T. Warren ◽  
I. Drury ◽  
D. Murman ◽  
M. L. Peacock
Keyword(s):  
Gene Polymorphism ◽  
Prion Gene ◽  
Allele Specific ◽  
Jakob Disease ◽  
Allele Specific Sequencing

scholarly journals CRP Gene Polymorphism and Their Risk Association With Type 2 Diabetes Mellitus

2019 ◽  
Vol 7 (1) ◽  
pp. 33-37
Author(s):  
Hakim Bahlok Jebur ◽  
Mirza Masroor ◽  
Hafiz Ahmad ◽  
Naushad Ahmad Khan ◽  
Juheb Akther ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Gene Polymorphism ◽  
Inflammatory Marker ◽  
Genotype Distribution ◽  
Reactive Protein ◽  
Specific Pcr ◽  
Increased Risk ◽  
Significant Difference ◽  
Allele Specific

BACKGROUND: C-reactive protein (CRP) is an inflammatory marker associated with T2DM, obesity, insulin resistance, and cardiovascular disease. AIM: The present study evaluates the association of CRP +1059 G/C polymorphism of the CRP gene in 100 T2D cases and 100 healthy controls. METHODS: Present study was done by allele specific PCR method to study the CRP gene polymorphism in study subjects. RESULTS: Study found that CRP (+1059 G/C) genotype distribution among case and controls was found to be significant (p=0.001), Higher CRP C allele frequency (0.16) was observed compared to controls (0.04). CRP +1059 GC and CC had 2.72 (1.12-6.61), 20.56 (1.16-362.1) risk for T2D. It has been observed, HTN, Obesity, Smoking and alcoholism was found to be associated with increased risk of T2D, and a significant difference was observed in biochemical parameters. CONCLUSION: Study concluded that CRP gene polymorphism was found to be associated with risk of Type 2 Diabetes and risk was linked with heterozygosity and mutant homozygosity. Hypertension, Obesity, Smoking and alcoholism increases the risk of occurrence of Type 2 Diabetes.

NovelNAT2haplotyping using allele-specific sequencing

2014 ◽  
Vol 15 (8) ◽  
pp. 1117-1124 ◽  
Author(s):  
Seong-Ho Kang ◽  
Geon Park ◽  
Sook Jin Jang ◽  
Dae-Soo Moon
Keyword(s):  
Allele Specific ◽  
Allele Specific Sequencing

scholarly journals WASP: allele-specific software for robust discovery of molecular quantitative trait loci

2014 ◽  
Author(s):  
Bryce van de Geijn ◽  
Graham McVicker ◽  
Yoav Gilad ◽  
Jonathan Pritchard
Keyword(s):  
Quantitative Trait Loci ◽  
Qtl Mapping ◽  
Error Rate ◽  
Quantitative Trait ◽  
Rna Seq ◽  
Read Mapping ◽  
Trait Loci ◽  
Allele Specific ◽  
Allele Specific Sequencing

Allele-specific sequencing reads provide a powerful signal for identifying molecular quantitative trait loci (QTLs), however they are challenging to analyze and prone to technical artefacts. Here we describe WASP, a suite of tools for unbiased allele-specific read mapping and discovery of molecular QTLs. Using simulated reads, RNA-seq reads and ChIP-seq reads, we demonstrate that our approach has a low error rate and is far more powerful than existing QTL mapping approaches.

T Allele of the DRD2 Taq1A Gene Polymorphism Increases the Predisposition to Drug Addiction in Indonesia Population

2020 ◽  
Vol 17 ◽  
Author(s):  
Viren Ramadhan ◽  
Faisal Rahman ◽  
Ahmad Hamim Sadewa ◽  
Zullies Ikawati
Keyword(s):  
Gene Polymorphism ◽  
Drug Addiction ◽  
Cross Sectional Study ◽  
P Value ◽  
Cross Sectional ◽  
Control Subjects ◽  
Allele Specific ◽  
Pcr Method ◽  
Polymerase Chain ◽  
And Control

Background: Dopamine plays an important role in mediating the rewarding properties in the abuse of drugs. The Taq1A polymorphism is a commonly studied DRD2 gene variant whereby carriers of the low-function T allele (T/T or T/C genotypes) show reduced brain dopamine function. Therefore, individuals who have the DRD2 Taq1A polymorphism will experience higher levels of drug addiction because the T allele is associated with a reduced number of dopamine binding sites in the brain. A study of this gene has been conducted in some areas but there is no research for the population of Indonesia. Objective: This study will focus on the frequency of DRD2 Taq1A gene polymorphism in the population of Indonesia and define its association with drug addiction. Method: This is an a-cross sectional study in which 182 subjects are divided into 91 drug-addicted patients and 91 nondrug-addicted control subjects. The genotype analysis was carried out by a modified allele-specific Polymerase Chain Reaction (PCR) method. Results: The frequency of the T/T and C/T was significantly higher in the addicted than control subjects. They are 6.6% and 63.7% compared to 0% and 3.3%. Likewise, the T allele is more frequent in the addicted equal to 38% compared to only 2% in the control subjects. The frequency of the T allele between the addicted and control subjects shows a significantly different (p-value < 0.0001; 95% CI), with the addicted being at a higher risk of having the T allele (OR = 37.3; 95% CI [11.46-121.29]). Results: The frequency of the T/T and C/T was significantly higher in the addicted than control subjects. They are 6.6% and 63.7% compared to 0% and 3.3%. Likewise, the T allele is more frequent in the addicted equal to 38% compared to only 2% in the control subjects. The frequency of the T allele between the addicted and control subjects shows a significantly different (p-value < 0.0001; 95% CI), with the addicted being at a higher risk of having the T allele (OR = 37.3; 95% CI [11.46-121.29]). Conclusion: A high frequency of the DRD2 Taq1A gene polymorphism between addicted patients and control subject groups. Thus, there is an association between the DRD2 Taq1A gene polymorphism and the development of drug addiction with T allele increases the predisposition to addiction.

scholarly journals Allele-specific differential expression of a common adiponectin gene polymorphism related to obesity

2003 ◽  
Vol 81 (7) ◽  
pp. 428-434 ◽  
Author(s):  
Wei-Shiung Yang ◽  
Pei-Ling Tsou ◽  
Wei-Jei Lee ◽  
Da-Lun Tseng ◽  
Chi-Ling Chen ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Differential Expression ◽  
Adiponectin Gene ◽  
Allele Specific

scholarly journals Potential Link between T102C Polymorphism in the Serotonin Receptors (5-HT2A) Gene and Treatment Response of Risperidone on Schizophrenia

2021 ◽  
Vol 9 (T3) ◽  
pp. 288-293
Author(s):  
Saidah Syamsuddin ◽  
Andi Fatimah ◽  
Faisal Idrus ◽  
Sonny T. Lisal
Keyword(s):  
Gene Polymorphism ◽  
Healthy Volunteers ◽  
Treatment Response ◽  
Serotonin Receptors ◽  
Serotonin Receptor ◽  
Receptor Gene ◽  
Significant Difference ◽  
Potential Link ◽  
Allele Specific ◽  
T102c Polymorphism

BACKGROUND: Schizophrenia affects 1% of population and its molecular etiology remains enigmatic despite enormous study. Approximately one-third of patients failed to respond with treatment. The 5-HT2A receptor appears to be one of important site of action of atypical antipsychotic drugs. It also has been suggested that the T102C gene polymorphism alters promoter activity and expression of 5-HT2A receptors and might be responsible for the associations with the efficacy of typical antipsychotics. AIM: In this study, we aimed to evaluate the potential link between T102C polymorphism in the Serotonin Receptors (5-HT2A) and their response to risperidone. METHODS: We studied 100 schizophrenia patients and 100 healthy volunteers as a comparison of 5-HT2A receptors gene polymorphism distribution, which were all Indonesian. The peripheral blood samples were obtained from all participants. The patients assessed by Positive and Negative Scale (PANSS) and Clinical Global Impression Scale (CGI) when admitted to the hospital. Clinical improvements then assessed 5 times in 4 weeks (when transferred to sub-acute ward, at the 1st, the 2nd, the 3rd, and the 4th week). To analyze the T102C polymorphism of 5-HT2A receptor gene, we used an allele specific polymerase chain reaction based restriction fragment length polymorphism (PCR-RFLP) method. RESULTS: In this study, there were three various polymorphisms of T102C in the serotonin receptor (5-HT2A) gene: T/T, C/C, and T/C. The patients who had homozygous for T/T genotypes were found to give better improvement to risperidone than the patients who were C/C and T/C genotypes (P:0.001). Moreover, the patients with C allele genotype T/C and C/C had minimal response (P:0.001). We found no significant difference distribution of genotypes between schizophrenia patients and healthy volunteers (P:0.498). CONCLUSION: Our result supported that there was a potential link between T102C polymorphism in the serotonin receptor (5-HT2A) gene and treatment response of risperidone. It suggested the importance of genetic screening such as examination of the Serotonin Receptor 5-HT2A (T102C) gene polymorphism to be performed to optimize therapeutic strategies with antipsychotic.

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