Molecular characterization of rpoB gene mutations in rifampicine-resistantMycobacterium tuberculosis isolates from tuberculosis patients in Belarus

2006 ◽  
Vol 1 (12) ◽  
pp. 1447-1452 ◽  
Author(s):  
Leonid P. Titov ◽  
Saeed Zakerbostanabad ◽  
Veranika Slizen ◽  
Larisa Surkova ◽  
Mohammad Taghikhani ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Gene Mutations ◽  
Rpob Gene ◽  
Tuberculosis Patients

scholarly journals Molecular characterization of the rpoB gene mutations of Mycobacterium tuberculosis isolated from China

2013 ◽  
Vol 01 (01) ◽  
pp. 1-8 ◽  
Author(s):  
Shengfen Wang ◽  
Bing Zhao ◽  
Yuanyuan Song ◽  
Yang Zhou ◽  
Yu Pang ◽  
...  
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Molecular Characterization ◽  
Gene Mutations ◽  
Rpob Gene

scholarly journals Molecular characterization of rpoB gene mutations in isolates from tuberculosis patients in Cubal, Republic of Angola

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ariadna Rando-Segura ◽  
María Luisa Aznar ◽  
María Milagros Moreno ◽  
Mateu Espasa Soley ◽  
Elena Sulleiro Igual ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Rpob Gene ◽  
Drug Susceptibility ◽  
Drug Susceptibility Testing ◽  
Resistance Pattern ◽  
Tuberculosis Patients ◽  
High Incidence ◽  
Resistant Strains

Abstract Background The importance of Mycobacterium tuberculosis strains with disputed rpoB mutations remains to be defined. This study aimed to assess the frequency and types of rpoB mutations in M. tuberculosis isolates from Cubal, Angola, a country with a high incidence of tuberculosis. Methods All isolates included (n = 308) were analyzed using phenotypic drug susceptibility testing and GenoType MTBDRplus assay. DNA sequencing of the rpoB gene and determination of rifampicin MIC by macrodilution method were additionally performed on isolates yielding discordant results (n = 12) and those in which the mutation detected was not characterized (n = 8). Results In total, 85.1% (74/87) of rifampicin-resistant strains had undisputed rpoB mutations -S450L (49), D435V (15), H445D (3), H445Y (2), Q432ins (1), L449M plus S450F (1), S450F (1), S450W (1) and S450Y (1)-; 10.3% (9/87) had disputed rpoB mutations—L430P plus S493L (1), N437del (1), H445L (3), D435Y (2), L452P (2)-, 2.3% (2.3%) showed no rpoB mutations and 2.3% (2/87) showed heteroresistance—D435Y plus L452P and L430P plus S493L-. Conclusion Disputed rpoB mutations were common, occurring in 10.3% of rifampicin resistant isolates. Current phenotyping techniques may be unable to detect this resistance pattern. To increase their sensitivity, a lower concentration of RIF could be used in these tests or alternatively, rpoB mutations could be screened and characterized in all M. tuberculosis strains.

Molecular Characterization of β- and α-Globin Gene Mutations in Individuals with Borderline Hb A2 Levels

Hemoglobin ◽  
2020 ◽  
Vol 44 (5) ◽  
pp. 349-353
Author(s):  
Surada Satthakarn ◽  
Sitthichai Panyasai ◽  
Sakorn Pornprasert
Keyword(s):  
Molecular Characterization ◽  
Globin Gene ◽  
Gene Mutations

scholarly journals Recent Advances in the Molecular Biology of Systemic Mastocytosis: Implications for Diagnosis, Prognosis, and Therapy

2020 ◽  
Vol 21 (11) ◽  
pp. 3987 ◽  
Author(s):  
Margherita Martelli ◽  
Cecilia Monaldi ◽  
Sara De Santis ◽  
Samantha Bruno ◽  
Manuela Mancini ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Systemic Mastocytosis ◽  
Gene Mutations ◽  
Scoring Systems ◽  
Molecular Data ◽  
Loss Of Function ◽  
Prognostic Information ◽  
Genetic Profiling ◽  
Kit D816v

In recent years, molecular characterization and management of patients with systemic mastocytosis (SM) have greatly benefited from the application of advanced technologies. Highly sensitive and accurate assays for KIT D816V mutation detection and quantification have allowed the switch to non-invasive peripheral blood testing for patient screening; allele burden has prognostic implications and may be used to monitor therapeutic efficacy. Progress in genetic profiling of KIT, together with the use of next-generation sequencing panels for the characterization of associated gene mutations, have allowed the stratification of patients into three subgroups differing in terms of pathogenesis and prognosis: (i) patients with mast cell-restricted KIT D816V; (ii) patients with multilineage KIT D816V-involvement; (iii) patients with “multi-mutated disease”. Thanks to these findings, new prognostic scoring systems combining clinical and molecular data have been developed. Finally, non-genetic SETD2 histone methyltransferase loss of function has recently been identified in advanced SM. Assessment of SETD2 protein levels and activity might provide prognostic information and has opened new research avenues exploring alternative targeted therapeutic strategies. This review discusses how progress in recent years has rapidly complemented previous knowledge improving the molecular characterization of SM, and how this has the potential to impact on patient diagnosis and management.

Molecular characterization of the rpoB gene in Brucella species: new potential molecular markers for genotyping

2006 ◽  
Vol 8 (3) ◽  
pp. 860-865 ◽  
Author(s):  
Cinzia Marianelli ◽  
Franco Ciuchini ◽  
Michela Tarantino ◽  
Paolo Pasquali ◽  
Rosanna Adone
Keyword(s):  
Molecular Markers ◽  
Molecular Characterization ◽  
Rpob Gene ◽  
Brucella Species

scholarly journals Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population 

2020 ◽  
Author(s):  
Amkha Sanephonasa ◽  
Chalisa Louicharoen Cheepsunthorn ◽  
Naly Khaminsou ◽  
Onekham Savongsy ◽  
Issarang Nuchprayoon ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Ethnic Group ◽  
Molecular Characterization ◽  
G6pd Deficiency ◽  
Gene Mutations ◽  
Final Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Arms Pcr

Abstract Background: The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. Methods: A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.Results: The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62 % (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13 % (23/252). The prevalence of G6PD deficient males and females (activity < 30 %) in the Lao Theung population was 6.41 % (5/78) and 1.72 % (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70 %) was 5.95 % (15/252).Conclusion: The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.

scholarly journals Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population

2021 ◽  
Author(s):  
Amkha Sanephonasa ◽  
Chalisa Louicharoen Cheepsunthorn ◽  
Naly Khaminsou ◽  
Onekham Savongsy ◽  
Issarang Nuchprayoon ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Ethnic Group ◽  
Molecular Characterization ◽  
G6pd Deficiency ◽  
Gene Mutations ◽  
Final Diagnosis ◽  
Amplification Refractory Mutation System ◽  
Common Mutation ◽  
Arms Pcr

Abstract Background The prevalence and genotypes of G6PD deficiency vary worldwide, with higher prevalence in malaria endemic areas. The first-time assessment of G6PD deficiency prevalence and molecular characterization of G6PD mutations in the Lao Theung population were performed in this study. Methods A total of 252 unrelated Lao Theung participants residing in the Lao People's Democratic Republic (PDR) were recruited. All participant samples were tested for G6PD enzyme activity and G6PD gene mutations. The amplification refractory mutation system (ARMS)-PCR for detecting G6PD Aures was developed.Results The G6PD mutations were detected in 11.51% (29/252) of the participants. Eight G6PD mutations were detected. The G6PD Aures was the most common mutation identified in this cohort, which represented 58.62 % (17/29) of all mutation. The mutation pattern was homogenous, predominantly involving the G6PD Aures mutation (6.75%), followed by 1.19% G6PD Union and 0.79% each G6PD Jammu, G6PD Mahidol and G6PD Kaiping. One subject (0.4%) each carried G6PD Viangchan and G6PD Canton. Interestingly, one case of coinheritance of G6PD Aures and Quing Yan was detected in this cohort. Based on levels of G6PD enzyme activity, the prevalence of G6PD deficiency in the Lao Theung population was 9.13 % (23/252). The prevalence of G6PD deficient males and females (activity < 30 %) in the Lao Theung population was 6.41 % (5/78) and 1.72 % (3/174), respectively, and the prevalence of G6PD intermediate (activity 30-70 %) was 5.95 % (15/252).Conclusion The G6PD Aures mutation is highly prevalent in the Lao Theung ethnic group. The common G6PD variants in continental Southeast Asian populations, G6PD Viangchan, Canton, Kaiping, Union and Mahidol, were not prevalent in this ethnic group. The technical simplicity of the developed ARMS-PCR will facilitate the final diagnosis of the G6PD Aures.

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