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《Hereditas(Beijing)》 2005-01
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Heteroplasmy: A Common Phenomenon of Mitochondrial Genome Mutations in Human Tumor Tissues

TAN Duan-Jun~1,LIU Ling-Ling~1,WEN Yi~1,LIU Peng~1,Julia Chang~2,Kun-Tu Yeh~2,LeeJun C Wong~3(1. Institute of Geriatric Cardiology of Chinese PLA General Hospital, Beijing 100853,China; 2. Department of Pathology, Changhua Christian Hospital, Changhua, China Taiwan 500; 3.Institute for Molecular and Human Genetics, GeorgetownUniversity Medical Center, Washington DC 20007, USA)  
To explore the status of heteroplasmy and homoplasmy of mitochondrial DNA somatic mutations in different tumors,DNA from 149 tumors and corresponding normal tissues were extracted and entire mitochondrial genome was amplified using 32 pairs of overlapping primers. The somatic mutations were screened by temporal temperature gradient gel electrophoresis and their heteroplasmic statute were identified by sequencing. The results showed that the incidence rate of heteroplasmy of mitochondrial DNA somatic mutations varies in different tumors. There is a higher rate of heteroplasmic mutation in oral cancer (65%) and esophageal cancer (64%), followed by breast cancer (45%). The frequency of four transfer types is sequentially Hm (homoplasmy)→Hm Hm→Ht (heteroplasmy) Ht→Hm Ht→Ht. The main transfer forms of transition and transversion mutations are Hm→Hm and Hm→Ht respectively. Heteroplasmy is a common phenomenon in mitochondrial DNA somatic mutations of human tumors.
【Fund】: 中国人民解放军总医院院长基金资助(03YZJJ005)~~
【CateGory Index】: R73-3
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