Affiliations: Cancer Cytogenetic Unit, Chulabhorn Hospital,
Vipavadee Rangsit rd., Laksi, Bangkok, Thailand | Data management unit, Chulabhorn Hospital, Vipavadee
Rangsit rd., Laksi, Bangkok, Thailand | Virology and Molecular Microbiology Unit, Department
of Pathology, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand | Division of Hematology, Department of Medicine,
Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok,
Thailand
Note: [] Correspondence: Dr. Chintana Tocharoentanaphol, Chulabhorn
Cancer Centre, Chulabhorn Hospital, Vipavadee Rangsit rd., Laksi, Bangkok,
10120, Thailand. Tel.: +664 6371452; Fax: +662 5766380; E-mail: [email protected]
Abstract: Genetic variation in MTHFR gene might explain the interindividual
differences in the reduction of DNA repaired and the increase of chromosome
breakage and damage. Nowadays, chromosomal rearrangement is recognized as a
major cause of lymphoid malignancies. In addition, the association of MTHFR
polymorphisms with aneuploidy was found in several studies, making the MTHFR
gene as a good candidate for leukemia etiology. Therefore, in this study, we
investigated the common sequence variation, 677C>T and 1298A>C in the
MTHFR gene of 350 fixed cell specimens archived after chromosome analysis. The
distribution of the MTHFR polymorphisms frequency was compared in leukemic
patients with structural chromosome abnormality and chromosome aneuploidy, as
well as in those with no evidence of chromosome abnormalities. We observed a
significant decrease in the distribution of T allele in 677C>T polymorphisms
among patients with chromosomal abnormalities including both structural
aberration and aneuploidy. The same significance result also found in patients
with structural aberration when compare with the normal karyotype patients.
Suggesting that polymorphism in the MTHFR gene was involved in chromosome
abnormalities of leukemia. However, further investigation on the correlation
with the specific types of chromosomal aberrations is needed.
