PT - JOURNAL ARTICLE AU - Hu, Xiaojing AU - Cong, Yaqin AU - Xu, Conggao AU - Feng, Jinbo AU - Jiang, Yujie AU - Jin, Hong TI - Variants of the Mitochondrial Displacement Loop in Patients with Myelodysplastic Syndromes AID - 10.1007/s11805-008-0343-5 DP - 2008 Oct 01 TA - Chinese Journal of Clinical Oncology PG - 343--348 VI - 5 IP - 5 4099 - http://www.cancerbiomed.org/content/5/5/343.short 4100 - http://www.cancerbiomed.org/content/5/5/343.full SO - Cancer Biol Med2008 Oct 01; 5 AB - OBJECTIVE Some mtDNA mutations have been detected in patients with myelodysplastic syndromes (MDSs). As the noncoding region of mitochondria, the displacement loop (D-loop) region of mtDNA contains important elements for mtDNA replication and transcription. Variants of the D-loop region were found to be related to the cause of many diseases. The aim of our study was to investigate mutations and single nucleotide polymorphisms in the D-loop region of MDS patients.METHODS The mutations and SNPs in the hypervariable regions of the D-loop were detected by direct sequencing in MDS patients and normal controls.RESULTS Sixty-four SNPs were found in the D-loop region in MDS cases and control group. Among the SNPs, the 16,189 variant (T > C transition) was found to have an increased frequency in the MDS group (P = 0.044). However, no mutations were detected in neither group.CONCLUSION Our data provide evidence for a highly polymorphic D-loop region in patients with MDS, but do not support the presence of mutations in the mitochondrial D-loop region in MDS cases. The mtDNA T16,189C variant, which may be a functional variant, is associated with increased susceptibility to a MDS.