Abstract 5130

Background & Aim:

This study detected three single nucleotide polymorphisms (SNPs) of methylenetetrahydrofolate reductase (MTHFR) gene in five hematology malignant cell lines, to find correlations between MTHFR gene SNPs and hematological malignancies by horizontal comparison.

Materials & Methods:

Cell line K562, Ka, HL-60, U937, and Raji were cultured. The genomic DNA was isolated by QIAamp DNA Blood Mini kit. Designing primes were amplified by PCR to get the related DNA fragments. MTHFR gene A1298C (rs1801131), C677T (rs1801131), G1793A (rs2274976) was genotyped by means of matrix assisted laser desorption ionisation-time of flight mass spectrometry method (MALDI-TOFMS).


The results showed that the genotype of locus A1298C (rs1801131) on MTHFR gene was AA for U937 cell line. While for K562, Ka, HL-60, and Raji cell lines, that was CA. For all the five hematology malignancies cell lines, the genotype of locus C677T (rs1801133) on the MTHFR gene was CC, and that of locus G1793A (rs2274976) was GG.


The genotype of locus A1298C (rs1801131) on MTHFR gene was not all the same in the detected hematology malignant cell lines, while the genotypes of the other 2 loci were same in the 5 cell lines.


No relevant conflicts of interest to declare.

Author notes


Asterisk with author names denotes non-ASH members.