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小儿克山病非变质心肌线粒体形态定量观察
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作者 李相忠 王孝铭 +1 位作者 李娟 李晶 《哈尔滨医科大学学报》 CAS 1993年第6期452-454,F003,共4页
本文在9例三型小儿克山病非变质心肌中,对391个心肌细胞的70 838个线粒体作了形态定量观察。结果表明,线粒体呈单纯性肿胀,其Vv和(?)普遍增大(P<0.001),可能是心肌变质前的最早形态指征。Nvm,p增大只见于慢型(P<0.01),属代偿性增生。
关键词 克山病 线粒体肿胀 线粒体增生
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Variants of the Mitochondrial Displacement Loop in Patients with Myelodysplastic Syndromes
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作者 Xiaojing Hu Yaqin Cong +3 位作者 Conggao Xu Jinbo Feng Yujie Jiang Hong Jin 《Chinese Journal of Clinical Oncology》 CSCD 2008年第5期343-348,共6页
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... 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. 展开更多
关键词 myelodysplastic syndrome mitochondrial DNA single nucleotide polymorphism mutation.
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