JAK2 V617F and Exon 12 Genetic Variations in Korean Patients with BCR/ABL1-negative Myeloproliferative Neoplasms / 대한진단검사의학회지
The Korean Journal of Laboratory Medicine
; : 567-574, 2010.
Article
en Ko
| WPRIM
| ID: wpr-108484
Biblioteca responsable:
WPRO
ABSTRACT
BACKGROUND: JAK2 genetic variations have been described in a high proportion of patients with BCR/ABL1-negative myeloproliferative neoplasms (MPN). This study was designed to analyze the frequencies of JAK2 V617F and exon 12 variations, and their correlations with clinical characteristics of Korean patients with BCR/ABL1-negative MPN. METHODS: We examined a total of 154 patients with BCR/ABL1-negative MPN that included 24, 26, 89, and 15 patients with polycythemia vera (PV), primary myelofibrosis (PMF), essential thrombocythemia (ET), and unclassified myeloproliferative neoplasms (MPNU), respectively. We performed allele-specific PCR to detect V617F in all BCR/ABL1-negative patients, and performed direct sequencing to detect exon 12 variations in 47 V617F-negative MPN patients. JAK2 c.1641+179_183del5 variation was detected by restriction fragment length polymorphism assay in 176 healthy subjects. RESULTS: JAK2 V617F was detected in 91 patients (59.1%): PV (91.6%), PMF (46.2%), ET (52.8%), and MPNU (66.7%). In V617F-negative MPN patients, no mutations were found in exon 12. The c.1641+179_183del5 was detected in 68.1% of V617F-negative MPN patients and 45.4% of healthy subjects (P=0.008). JAK2 V617F was closely correlated with age and leukocytosis in BCR/ABL1-negative MPN patients (P<0.05). However, c.1641+179_183del5 was not related to age, sex, or complete blood cell count parameters in V617F-negative MPN patients and healthy subjects. The c.1641+179_183del5 was associated with an increased odds ratio for MPN (odds ratio, 2.6; 95% confidences interval, 1.3-5.1; P=0.007). CONCLUSIONS: Frequencies of V617F are similar to reported results. JAK2 exon 12 mutations may be rare and c.1641+179_183del5 may influence the occurrence of MPN in Korean patients with V6 17F-negative MPN.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Variación Genética
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Polimorfismo de Longitud del Fragmento de Restricción
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Oportunidad Relativa
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Exones
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Proteínas de Fusión bcr-abl
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Factores de Edad
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Análisis de Secuencia de ADN
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Sustitución de Aminoácidos
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Pueblo Asiatico
/
Alelos
Tipo de estudio:
Etiology_studies
Límite:
Adolescent
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Adult
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Aged
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Aged80
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Child
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Female
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Humans
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Male
País/Región como asunto:
Asia
Idioma:
Ko
Revista:
The Korean Journal of Laboratory Medicine
Año:
2010
Tipo del documento:
Article