1.Detection of single nucleotide polymorphisms of Jak2 gene in multiple myeloma by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
Yue-Jiao ZHOANG ; Bao-An CHEN ; Lu CHENG ; Ji-Feng FENG ; Yu-Feng LI ; Jun QIAN ; Jia-Hua DING ; Jian CHENG ; Feng GAO ; Guo-Hua XIA ; Ning SUN ; Yan ZHANG ; Xiao-Ping ZHANG ; Pei-Pei XU ; Zu-Hong LU
Journal of Experimental Hematology 2009;17(5):1234-1237
This study was purposed to investigate the practicality of matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) for detection of single nucleotide polymorphisms (SNP) on jak2 gene in multiple myeloma (MM) cells. The DNA fragment containing 2 SNPs of jak2 (C428T and C643T) was amplified using PCR and was purified. The purified product was used as the template for primer extension (PEX). The small products of allele-specific reaction were purified, the SNPs on jak2 gene of 5 patients with MM and 5 healthy persons were detected by MALDI-TOF MS. The results showed that the distribution of genotype C428T and C643T was not different between MM patients and healthy persons, both of which are homozygous T/T. In conclusion, the method based on MALDI-TOF MS and PEX technique for detecting SNP in jak2 gene is rapid, accurate and reliable method, and can be used in clinical practice.
Case-Control Studies
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DNA Primers
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Genotype
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Humans
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Janus Kinase 2
;
genetics
;
Multiple Myeloma
;
genetics
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Polymorphism, Single Nucleotide
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Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
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methods
Result Analysis
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