DNMT3A GENE POINT MUTATIONS DETECTION IN ACUTE MYELOID LEUKEMIA PATIENTS USING SEQUENCING TECHNIQUE
Aim: to estimate the frequency of DNMT3A gene exons 18–26 point mutations in acute myeloid leukemia (AML) patients (pts) using target automatic sequencing technique.Material and Methods. Bone marrow and peripheral blood samples were obtained from 34 AML pts aged 21 to 64, who were treated in Sverdlo...
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| Format: | Article |
| Language: | English |
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Siberian State Medical University (Tomsk)
2015-02-01
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| Series: | Бюллетень сибирской медицины |
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| Online Access: | https://bulletin.ssmu.ru/jour/article/view/108 |
| _version_ | 1797872909638696960 |
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| author | A. V. Vinogradov A. V. Rezaykin A. G. Sergeev |
| author_facet | A. V. Vinogradov A. V. Rezaykin A. G. Sergeev |
| author_sort | A. V. Vinogradov |
| collection | DOAJ |
| description | Aim: to estimate the frequency of DNMT3A gene exons 18–26 point mutations in acute myeloid leukemia (AML) patients (pts) using target automatic sequencing technique.Material and Methods. Bone marrow and peripheral blood samples were obtained from 34 AML pts aged 21 to 64, who were treated in Sverdlovsk Regional Hematological Centre (Ekaterinburg) during the period 2012–2014. Distribution of the pts according to FAB-classification was as follows: AML M0 – 3, M1 – 1, M2 – 12, M3 – 3, M4 – 10, M5 – 2, M6 – 1, M7 – 1, blastic plasmacytoid dendritic cell neoplasm – 1. Total RNA was extracted from leukemic cells and subjected to reverse transcription. DNMT3A gene exons 18–26 were amplified by PCR. Detection of mutations in DNMT3A gene was performed by direct sequencing. Sequencing was realized using an automatic genetic analyzer ABI Prism 310.Results. The average frequency of functionally significant point mutations in DNMT3A gene exons 18– 26 among the treated AML pts was 5.9%. They were detected in morphological subgroups M2 and M4(according to WHO classification). The average frequency of DNMT3A gene exons 18–26 point mutations among the AML M2 and M4 pts without chromosomal aberrations and TP53 gene point mutations was 14.3%. In both cases there were samples in which DNMT3A gene mutations were accompanied by molecular lesions of NPM1, KRAS and WT1 genes. AML pts with DNMT3A gene exons 18–26 point mutations characterized by poor response to standard chemotherapeutic regimens and unfavorable prognosis. |
| first_indexed | 2024-04-10T01:07:40Z |
| format | Article |
| id | doaj.art-8e9aa1ea06474aa5823265fc8107c8c0 |
| institution | Directory Open Access Journal |
| issn | 1682-0363 1819-3684 |
| language | English |
| last_indexed | 2024-04-10T01:07:40Z |
| publishDate | 2015-02-01 |
| publisher | Siberian State Medical University (Tomsk) |
| record_format | Article |
| series | Бюллетень сибирской медицины |
| spelling | doaj.art-8e9aa1ea06474aa5823265fc8107c8c02023-03-13T09:58:21ZengSiberian State Medical University (Tomsk)Бюллетень сибирской медицины1682-03631819-36842015-02-01141182310.20538/1682-0363-2015-1-18-23106DNMT3A GENE POINT MUTATIONS DETECTION IN ACUTE MYELOID LEUKEMIA PATIENTS USING SEQUENCING TECHNIQUEA. V. Vinogradov0A. V. Rezaykin1A. G. Sergeev2Министерство здравоохранения Свердловской области, Уральский государственный медицинский университет, ЕкатеринбургМинистерство здравоохранения Свердловской области, Уральский государственный медицинский университет, ЕкатеринбургМинистерство здравоохранения Свердловской области, Уральский государственный медицинский университет, ЕкатеринбургAim: to estimate the frequency of DNMT3A gene exons 18–26 point mutations in acute myeloid leukemia (AML) patients (pts) using target automatic sequencing technique.Material and Methods. Bone marrow and peripheral blood samples were obtained from 34 AML pts aged 21 to 64, who were treated in Sverdlovsk Regional Hematological Centre (Ekaterinburg) during the period 2012–2014. Distribution of the pts according to FAB-classification was as follows: AML M0 – 3, M1 – 1, M2 – 12, M3 – 3, M4 – 10, M5 – 2, M6 – 1, M7 – 1, blastic plasmacytoid dendritic cell neoplasm – 1. Total RNA was extracted from leukemic cells and subjected to reverse transcription. DNMT3A gene exons 18–26 were amplified by PCR. Detection of mutations in DNMT3A gene was performed by direct sequencing. Sequencing was realized using an automatic genetic analyzer ABI Prism 310.Results. The average frequency of functionally significant point mutations in DNMT3A gene exons 18– 26 among the treated AML pts was 5.9%. They were detected in morphological subgroups M2 and M4(according to WHO classification). The average frequency of DNMT3A gene exons 18–26 point mutations among the AML M2 and M4 pts without chromosomal aberrations and TP53 gene point mutations was 14.3%. In both cases there were samples in which DNMT3A gene mutations were accompanied by molecular lesions of NPM1, KRAS and WT1 genes. AML pts with DNMT3A gene exons 18–26 point mutations characterized by poor response to standard chemotherapeutic regimens and unfavorable prognosis.https://bulletin.ssmu.ru/jour/article/view/108точечная мутацияострый миелоидный лейкозген dnmt3aпрямое автоматическое секвенирование |
| spellingShingle | A. V. Vinogradov A. V. Rezaykin A. G. Sergeev DNMT3A GENE POINT MUTATIONS DETECTION IN ACUTE MYELOID LEUKEMIA PATIENTS USING SEQUENCING TECHNIQUE Бюллетень сибирской медицины точечная мутация острый миелоидный лейкоз ген dnmt3a прямое автоматическое секвенирование |
| title | DNMT3A GENE POINT MUTATIONS DETECTION IN ACUTE MYELOID LEUKEMIA PATIENTS USING SEQUENCING TECHNIQUE |
| title_full | DNMT3A GENE POINT MUTATIONS DETECTION IN ACUTE MYELOID LEUKEMIA PATIENTS USING SEQUENCING TECHNIQUE |
| title_fullStr | DNMT3A GENE POINT MUTATIONS DETECTION IN ACUTE MYELOID LEUKEMIA PATIENTS USING SEQUENCING TECHNIQUE |
| title_full_unstemmed | DNMT3A GENE POINT MUTATIONS DETECTION IN ACUTE MYELOID LEUKEMIA PATIENTS USING SEQUENCING TECHNIQUE |
| title_short | DNMT3A GENE POINT MUTATIONS DETECTION IN ACUTE MYELOID LEUKEMIA PATIENTS USING SEQUENCING TECHNIQUE |
| title_sort | dnmt3a gene point mutations detection in acute myeloid leukemia patients using sequencing technique |
| topic | точечная мутация острый миелоидный лейкоз ген dnmt3a прямое автоматическое секвенирование |
| url | https://bulletin.ssmu.ru/jour/article/view/108 |
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