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OBJECTIVE Some mtDNA mutations have been detected in patients with myelodysplastic syndromes(MDSs).As the non-coding 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.
OBJECTIVE Some mtDNA mutations have been detected in patients with myelodysplastic syndromes (MDSs). As the non-coding region of mitochondria, the displacement loop (D-loop) region of mtDNA contains important elements for mtDNA replication and transcription. Variants of the D- 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 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 m utations 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.