Mutation detection of mitochondrial DNA D-loop region in bone marrow cells of acute leukemia

Abstract

This study was aimed to detect the mutations and microsatellite instability (mtMSI) in mitochondrial DNA (mtDNA) D-loop region in bone marrow cells of acute leukemia (AL) patients, and to analyze their relationship with the pathogenesis of AL. 19 cases of newly diagnosed AL were enrolled in this study. Through extracting mtDNA, the D-loop region was amplified by polymerase chain reaction (PCR), the sequences of PCR products were detected by the pros- and cons-direct sequencing methods. The sequencing results were compared with the revised Cambridge reference sequence (rCRS) and the relevant database (MITOMAP database, GenBank database, mtDB database). The results showed that the mutation rate of mtDNA D-loop region in AL was 79% (15/19). 215 variations (35 mutations, 180 SNP) and a kind of mtMSI in the D-loop region were detected. A new type of mutation nt150 C-CT was found. Also, there was no significant difference in the number of mutations between patients with different ages and different types of AL (AML, B-ALL). It is concluded that there is high frequency of mutations in the mtDNA D-loop, and the mutations may be associated with the pathogenesis of AL.