Detection of internal tandem duplications in the FLT3 gene by different electrophoretic methods

Bubán, T.; Koczok, Katalin; Földesi, Róza; Szabó, Gábor; Sümegi, Andrea; Tanyi, Miklós; Szerafin, László; Udvardy, Miklós; Kappelmayer, János; Antal‐Szalmás, Péter

doi:10.1515/cclm.2011.762

Cited by 9 publications

(15 citation statements)

References 46 publications

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“…The PCR products were sequenced using a cyclic chain-termination sequencing reaction with the BigDye Terminator kit (v.3.1 and v.1.1; Thermo Fisher Scientific) and the ABI PRISM 310 Genetic Analyzer (Thermo Fisher Scientific), as described before [19].…”

Section: Sequence Analysis Of the Eif2ak3 Gene From Dna And Rna Samplesmentioning

confidence: 99%

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

et al. 2020

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Background: Wolcott-Rallison Syndrome (WRS) is a rare autosomal recessive disease that is the most common cause of neonatal diabetes in consanguineous families. WRS is caused by various genetic alterations of the Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3 (EIF2AK3) gene. Methods: Genetic analysis of a consanguineous family where two children were diagnosed with WRS was performed by Sanger sequencing. The altered protein was investigated by in vitro cloning, expression and immunohistochemistry. Results: The first cases in Hungary, − two patients in one family, where the parents were fourth-degree cousinsshowed the typical clinical features of WRS: early onset diabetes mellitus with hyperglycemia, growth retardation, infection-induced multiple organ failure. The genetic background of the disease was a novel alteration in the EIF2AK3 gene involving the splice site of exon 11-intron 11-12 boundary: g.53051_53062delinsTG. According to cDNA sequencing this created a new splice site and resulted in a frameshift and the development of an early termination codon at amino acid position 633 (p.Pro627AspfsTer7). Based on in vitro cloning and expression studies, the truncated protein was functionally inactive. Immunohistochemistry revealed that the intact protein was absent in the islets of pancreas, furthermore insulin expressing cells were also dramatically diminished. Elevated GRP78 and reduced CHOP protein expression were observed in the liver. Conclusions: The novel genetic alteration causing the absence of the EIF2AK3 protein resulted in insufficient handling of severe endoplasmic reticulum stress, leading to liver failure and demise of the patients.

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Section: Sequence Analysis Of the Eif2ak3 Gene From Dna And Rna Samplesmentioning

confidence: 99%

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

et al. 2020

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“…These issues are increasingly important when considering future applications in food analysis, in which speed, safety, and effectiveness are compulsory for practical applications. In contrast, the aforementioned shortcomings of CE may be offset by its higher resolution (Janezic and others ; Wang and others ; Barakat and others ; Basak and others ; Quílez and others ), better sensitivity, accuracy (Hsieh and others ), and reproducibility (Buban and others ), rapidity (Tiller and others ; Barakat and others ), ease of use on a microscale, and few harmful reagents. Moreover, CE can complete a single run in as little as a few minutes to dozens of minutes, so that hundreds of detections can be finished in a single day.…”

Section: Limitations Advantages and Future Development Of Ce‐based mentioning

confidence: 99%

Capillary Electrophoresis Based on Nucleic Acid Detection as Used in Food Analysis

Lian

Zeng

2017

Comp Rev Food Sci Food Safe

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Food safety and food production are closely related to the health of consumers. Food-related accidents often cause tremendous losses of personnel and property. Thus, rapid detection and analysis of ingredients in food, tracing food sources, studying the optimal conditions for food production, and more are vital for preventing incidents related to safety. Conventional analysis based on proteomics, microbial cultures, and morphology, as well as biochemical tests based on metabonomics, are considered gold standards and used frequently, but they are labor-intensive, time-consuming, tedious, error-prone, and incapable of meeting the demand for rapid and precise detection at a large scale. Alternative detection methods that utilize capillary electrophoresis have the advantages of high efficiency, high throughput, high speed, and automation; these methods are coupled with various nucleic acid detection strategies to overcome the drawbacks of traditional identification methods, and to prevent false results. Therefore, this review focuses on the application of capillary electrophoresis based on nucleic acid detection in food analysis and provides an introduction to the limitations, advantages, and future developments of this approach.

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“…These issues are increasingly urgent when considering future applications in infectious disease diagnosis where speed, safety, and effectiveness are compulsory for clinical needs. By contrast, the aforementioned shortcomings for analysis using CE may be offset by its higher resolution [148,149], better sensitivity and reproducibility [150], rapidity [151], ease of use on a microscale, and few harmful reagents. Moreover, CE can complete a single detection in as little as a few minutes to dozens of minutes, so that hundreds of detections can be finished in a single day.…”

Section: Limitations Advantages and Future Development Of Ce Based Omentioning

confidence: 99%

Capillary electrophoresis based on nucleic acid detection for diagnosing human infectious disease

Lian

Zhao

2016

Clinical Chemistry and Laboratory Medicine (CCLM)

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Rapid transmission, high morbidity, and mortality are the features of human infectious diseases caused by microorganisms, such as bacteria, fungi, and viruses. These diseases may lead within a short period of time to great personal and property losses, especially in regions where sanitation is poor. Thus, rapid diagnoses are vital for the prevention and therapeutic intervention of human infectious diseases. Several conventional methods are often used to diagnose infectious diseases, e.g. methods based on cultures or morphology, or biochemical tests based on metabonomics. Although traditional methods are considered gold standards and are used most frequently, they are laborious, time consuming, and tedious and cannot meet the demand for rapid diagnoses. Disease diagnosis using capillary electrophoresis methods has the advantages of high efficiency, high throughput, and high speed, and coupled with the different nucleic acid detection strategies overcomes the drawbacks of traditional identification methods, precluding many types of false positive and negative results. Therefore, this review focuses on the application of capillary electrophoresis based on nucleic detection to the diagnosis of human infectious diseases, and offers an introduction to the limitations, advantages, and future developments of this approach.

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Detection of internal tandem duplications in the FLT3 gene by different electrophoretic methods

Cited by 9 publications

References 46 publications

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

Capillary Electrophoresis Based on Nucleic Acid Detection as Used in Food Analysis

Capillary electrophoresis based on nucleic acid detection for diagnosing human infectious disease

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