Objective: To investigate the allele and genotype frequencies of reduced folate carrier gene (RFC) 80G/A polymorphism in Chinese patients with acute leukemia (AL) and healthy control children, and to provide clue for association between the single nucleotide polymorphism (SNP) of RFC and the occurrence of AL.
Methods: Bone marrow samples from 98 childhood patients with AL and peripheral blood samples from 135 healthy children were obtained to prepare complementary DNAs (cDNAs). The cDNAs were analyzed for the polymorphisms in RFC 80G/A by reverse transcriptase-polymerase chain reaction-denaturing gradient gel electrophoresis (RT-PCR-DGGE) and direct sequencing.
Results: The A allele frequencies of the AL patients and control children were 0.515 and 0.415, respectively (P< 0.05). Chi-square test confirmed a statistical significance of the association between RFC80 G/A and AL.
Conclusion: RFC 80AA or GA genotype may contribute to increasing the susceptibility to AL.