Comparison and analysis of SNV results: detected by transcriptome sequencing technology on initial diagnosis and remission stage of a patient with AML-M2 / 中国实验血液学杂志
Journal of Experimental Hematology
; (6): 666-670, 2014.
Article
en Zh
| WPRIM
| ID: wpr-349651
Biblioteca responsable:
WPRO
ABSTRACT
This study was aimed to further clarify the pathogenesis of acute myeloid leukemia(AML), and to forecast new somatic mutations related with leukemia. The peripheral blood samples on initial diagnosis and remission stage of a patient with partial differentiated AML(AML-M2) were sequenced by high throughput transcriptome sequencing technology. The single nucleotide variation (SNV) which possibly related with pathogenesis of leukemia was screened through comparison of the expressed genes on initial diagnosis and after remission. The results showed that the Reads distributed uniformly in genome and covered completely, detecting most expression genes. by screening the SNV, a total of 29881 mutations were discovered, including 28113 germline mutations and 752 individual mutations. Among them, 11 acquired mutations (P < 0.05) in coding regions were got, including ZRSR1, MLXIP, TLN1, LAP3, HK3. It is concluded that the high throughput sequencing as an unbiased new method can find new tumor-related mutations. MLXIP may be a new molecular marker of AML-M2.
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Sangre
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Análisis Mutacional de ADN
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Secuencia de Bases
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Leucemia Mieloide Aguda
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Polimorfismo de Nucleótido Simple
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Transcriptoma
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Genética
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
Idioma:
Zh
Revista:
Journal of Experimental Hematology
Año:
2014
Tipo del documento:
Article