Genetic Profile of Patients with Classical Ph-negative Chronic Myeloproliferative Diseases in the Republic of Sakha (Yakutia)
Background: Mutations in the JAK2, CALR, and MPL genes are key factors of the classical Ph-negative CMPD pathogenesis with demonstrated diagnostic and prognostic value. The aim of this research was to study the prevalence of JAK2, CALR, and MPL mutations in patients with CMPD and healthy individuals...
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International Medical Research and Development Corporation
2020
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ftdoajarticles:oai:doaj.org/article:28bf71a559dd40a7ab8a9c270f48b966 2023-05-15T18:06:39+02:00 Genetic Profile of Patients with Classical Ph-negative Chronic Myeloproliferative Diseases in the Republic of Sakha (Yakutia) Tuiara N. Aleksandrova Nadezhda I. Pavlova Khariton A. Kurtanov Inna I. Mulina Vera N. Yadrikinskaya Lena D. Terekhova Irina E. Solovieva Aleksandra T. Diakonova Natalia A. Solovyeva 2020-03-01T00:00:00Z https://doi.org/10.21103/Article10(1)_OA8 https://doaj.org/article/28bf71a559dd40a7ab8a9c270f48b966 EN eng International Medical Research and Development Corporation http://ijbm.org/articles/i37/ijbm_10(1)_oa8.pdf https://doaj.org/toc/2158-0510 https://doaj.org/toc/2158-0529 doi:10.21103/Article10(1)_OA8 2158-0510 2158-0529 https://doaj.org/article/28bf71a559dd40a7ab8a9c270f48b966 International Journal of Biomedicine, Vol 10, Iss 1, Pp 54-57 (2020) chronic myeloproliferative diseases gene mutations single nucleotide polymorphism Medicine R article 2020 ftdoajarticles https://doi.org/10.21103/Article10(1)_OA8 2022-12-31T01:44:08Z Background: Mutations in the JAK2, CALR, and MPL genes are key factors of the classical Ph-negative CMPD pathogenesis with demonstrated diagnostic and prognostic value. The aim of this research was to study the prevalence of JAK2, CALR, and MPL mutations in patients with CMPD and healthy individuals in the Republic of Sakha (Yakutia) (RS(Y)). Methods and Results: The study included patients with previously confirmed diagnoses of PV (n=15), ET (n=16), and PMF (n=11) and 68 people with peripheral blood changes, suspected to have CMPD. The control group included 184 healthy volunteers. All patients and participants in the control group were genotyped according to the following SNPs: the JAK2 rs77375493 SNP, the CALR rs765476509 SNP, the CALR rs1450785140 SNP, the MPL rs121913616 SNP, and the MPL rs121913615. The prevalence of the JAK2V617F mutation among PV patients in the RS(Y) was 90.9%. Patients with ET in 61.3% of cases were carriers of the JAK2V617F mutation, in 6.4% of CALR mutations, and in 3.2% of the MPLW515L mutations. In PMF patients, the JAK2V617F mutation was detected in 64.7% of cases, and the Type 1 CALR mutation was detected in 17.6% of cases. Carriage of the JAK2V617F mutation was revealed in 1.1% of healthy individuals and in 4.4% of individuals with initial signs of a myeloproliferative process. Conclusion: Early molecular genetic testing will improve the timely diagnosis of CMPD and possibly reduce the number of complications. Article in Journal/Newspaper Republic of Sakha Yakutia Directory of Open Access Journals: DOAJ Articles Sakha International Journal of Biomedicine 10 1 54 57 |
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Open Polar |
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Directory of Open Access Journals: DOAJ Articles |
op_collection_id |
ftdoajarticles |
language |
English |
topic |
chronic myeloproliferative diseases gene mutations single nucleotide polymorphism Medicine R |
spellingShingle |
chronic myeloproliferative diseases gene mutations single nucleotide polymorphism Medicine R Tuiara N. Aleksandrova Nadezhda I. Pavlova Khariton A. Kurtanov Inna I. Mulina Vera N. Yadrikinskaya Lena D. Terekhova Irina E. Solovieva Aleksandra T. Diakonova Natalia A. Solovyeva Genetic Profile of Patients with Classical Ph-negative Chronic Myeloproliferative Diseases in the Republic of Sakha (Yakutia) |
topic_facet |
chronic myeloproliferative diseases gene mutations single nucleotide polymorphism Medicine R |
description |
Background: Mutations in the JAK2, CALR, and MPL genes are key factors of the classical Ph-negative CMPD pathogenesis with demonstrated diagnostic and prognostic value. The aim of this research was to study the prevalence of JAK2, CALR, and MPL mutations in patients with CMPD and healthy individuals in the Republic of Sakha (Yakutia) (RS(Y)). Methods and Results: The study included patients with previously confirmed diagnoses of PV (n=15), ET (n=16), and PMF (n=11) and 68 people with peripheral blood changes, suspected to have CMPD. The control group included 184 healthy volunteers. All patients and participants in the control group were genotyped according to the following SNPs: the JAK2 rs77375493 SNP, the CALR rs765476509 SNP, the CALR rs1450785140 SNP, the MPL rs121913616 SNP, and the MPL rs121913615. The prevalence of the JAK2V617F mutation among PV patients in the RS(Y) was 90.9%. Patients with ET in 61.3% of cases were carriers of the JAK2V617F mutation, in 6.4% of CALR mutations, and in 3.2% of the MPLW515L mutations. In PMF patients, the JAK2V617F mutation was detected in 64.7% of cases, and the Type 1 CALR mutation was detected in 17.6% of cases. Carriage of the JAK2V617F mutation was revealed in 1.1% of healthy individuals and in 4.4% of individuals with initial signs of a myeloproliferative process. Conclusion: Early molecular genetic testing will improve the timely diagnosis of CMPD and possibly reduce the number of complications. |
format |
Article in Journal/Newspaper |
author |
Tuiara N. Aleksandrova Nadezhda I. Pavlova Khariton A. Kurtanov Inna I. Mulina Vera N. Yadrikinskaya Lena D. Terekhova Irina E. Solovieva Aleksandra T. Diakonova Natalia A. Solovyeva |
author_facet |
Tuiara N. Aleksandrova Nadezhda I. Pavlova Khariton A. Kurtanov Inna I. Mulina Vera N. Yadrikinskaya Lena D. Terekhova Irina E. Solovieva Aleksandra T. Diakonova Natalia A. Solovyeva |
author_sort |
Tuiara N. Aleksandrova |
title |
Genetic Profile of Patients with Classical Ph-negative Chronic Myeloproliferative Diseases in the Republic of Sakha (Yakutia) |
title_short |
Genetic Profile of Patients with Classical Ph-negative Chronic Myeloproliferative Diseases in the Republic of Sakha (Yakutia) |
title_full |
Genetic Profile of Patients with Classical Ph-negative Chronic Myeloproliferative Diseases in the Republic of Sakha (Yakutia) |
title_fullStr |
Genetic Profile of Patients with Classical Ph-negative Chronic Myeloproliferative Diseases in the Republic of Sakha (Yakutia) |
title_full_unstemmed |
Genetic Profile of Patients with Classical Ph-negative Chronic Myeloproliferative Diseases in the Republic of Sakha (Yakutia) |
title_sort |
genetic profile of patients with classical ph-negative chronic myeloproliferative diseases in the republic of sakha (yakutia) |
publisher |
International Medical Research and Development Corporation |
publishDate |
2020 |
url |
https://doi.org/10.21103/Article10(1)_OA8 https://doaj.org/article/28bf71a559dd40a7ab8a9c270f48b966 |
geographic |
Sakha |
geographic_facet |
Sakha |
genre |
Republic of Sakha Yakutia |
genre_facet |
Republic of Sakha Yakutia |
op_source |
International Journal of Biomedicine, Vol 10, Iss 1, Pp 54-57 (2020) |
op_relation |
http://ijbm.org/articles/i37/ijbm_10(1)_oa8.pdf https://doaj.org/toc/2158-0510 https://doaj.org/toc/2158-0529 doi:10.21103/Article10(1)_OA8 2158-0510 2158-0529 https://doaj.org/article/28bf71a559dd40a7ab8a9c270f48b966 |
op_doi |
https://doi.org/10.21103/Article10(1)_OA8 |
container_title |
International Journal of Biomedicine |
container_volume |
10 |
container_issue |
1 |
container_start_page |
54 |
op_container_end_page |
57 |
_version_ |
1766178296987385856 |