[Study of mutation and single nucleotide polymorphism of PDGFRbeta and SHIP gene in acute myeloid leukemia].
OBJECTIVE
To investigate the significance of mutation and single nucleotide polymorphism (SNP) of class III receptor tyrosine kinases such as PDGFRbeta and SHIP in acute myeloid leukemia (AML) patients.


METHODS
Screening of the mutation and SNP of PDGFRbeta and SHIP by genomic PCR, RT-PCR, directly sequencing and Mass-ARRAY system was carried out in 273 AML patients.


RESULTS
The mutations of PDGFRbeta R685C and SHIP Q1153L were detected for the first time in AML patients. The positivity ratio was 0.73% and 0.36% respectively.


CONCLUSIONS
The mutations of PDGFRbeta R685C and SHIP Q1153L may contribute to leukemogenesis of AML.
Zhang
Su-jiang
SJ
Department of Hematology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
Li
Jian-yong
JY
Shi
Jing-yi
JY
Shi
Zhan-zhong
ZZ
Gu
Bai-wei
BW
Bai
Xue-tao
XT
Zhu
Yong-mei
YM
Shen
Zhi-xiang
ZX
D006801:Humans; D007295:Inositol Phosphates / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D013058:Mass Spectrometry; D009154:Mutation; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D020797:Receptor, Platelet-Derived Growth Factor beta / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
D007295:Inositol Phosphates; D020797:Receptor, Platelet-Derived Growth Factor beta