A sequence analysis of mitochondrial DNA hypervariable segment I among Han ethnic patients with HIV/AIDS in Guizhou, China

作者:Zhang, Jingsong; Xiao, Dexin; Li, Sha; Chen, Hongyun; Li, Jinqin; Wang, Yidan; Li, Juan; Zhang, Xinjiang*
来源:International Journal of Clinical and Experimental Pathology, 2016, 9(6): 6015-6022.

摘要

This study aims to investigate the gene polymorphisms in mitochondrial DNA (mtDNA) hypervariable segment I (HVS I) among Han ethnic patients with HIV/AIDS in Guizhou, China, and to explore the effects of mitochondrial gene polymorphisms on HIV infection. Blood samples were collected from 110 Han ethnic patients with HIV/AIDS and 110 healthy Han ethnic newborn babies and anti-coagulated by EDTA. Then, mitochondrial DNA was extracted, and the nucleic acid fragments of 643 bp containing non-encoding HVS I was amplified by PCR. After the purification of PCR products, sequencing was performed, and the sequencing results were compared with revised Cambridge Reference Sequence to analyze mutant sites and mutation frequency in each site. Base mutation frequency distribution in single nucleotide site in mtDNA was compared between two groups. Results: In the nucleic acid fragment of 341 bp in the D-Loop HVS I (nucleotide sites, 16,024 similar to 16,365) among those patients with HIV/AIDS and the healthy controls, 380 base mutations occurred in the case group, with an average base mutation rate of 1.01%, and 241 base mutations in the control group, with an average base mutation rate of 0.64%, indicating that base mutation rate in the case group was obviously higher than that in the control group. These results suggest that mtDNA gene mutations, namely quality changes in mitochondria, exist in HIV/AIDS patients; however, whether HIV infection leads to mtDNA gene mutations in patients or the population with mtDNA gene mutations is susceptible to HIV infection requires further study to confirm.

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