【Abstract】 Objective To analyze the correlations between the mt5351G and mt6680C genotypes in mitochondrial DNA ( mtDNA) haplogroup M and susceptibility to high altitude pulmonary edema ( HAPE)among the Hans. Methods Specimens from206 Hans cases of HAPE and 144 matched Hans controls were collected. Then PCR-RFLP method was used to determine haplogroup M and N of mtDNA, and PCR-LDR was used to genotype mt5351G and mt6680C in the haplogroup M in these samples. Results The frequencies of haplogroup Mand N were 49. 0% and 51.0% in the HAPE patients, and 47. 2% and 52. 8% in the controls, respectively, with no significant difference between the HAPE patients and the controls. In the haplogroup M, the genotype of mt6680C and mt5351G frequencies in the HAPE patients were both significantly higher than the controls ( both 12. 0% vs. 1. 5% , P = 0. 016) . Conclusion The existence of mt5351G and mt6680C genotypes in the haplogroup Mis a risk factor for HAPE among the Hans.
Purpose To investigate the relationship between mitochondrial DNA 11778 mutation and clinical characteristics of patients with Laber is hereditary optic neuropathy(LHON). Methods PCR RFLPs (MaeⅢ) and mutation specific primer PCR(MSP-PCR) were used simultaneously to detect mitochondrial DNA 11778 mutation. Results Among 10 subjects who habored 11778 mutation,one was a carrier and nine were patients with LHON.Of the nine patients,six were males and three were females.The age of onset ranged from 12 to 25 years old and the onset interval of the two eyed varied between 0 to 6 months. The visual acuity was CF/10cm-0.1 except one who lost her vision after delivery but recovered gradually.The results of visual field,VEP and color vision were abnormal but ERG and systemic status were all normal. Conclusion Molecular biological detection of the ten subjects showed that they all habored mtDNA 11778 mutation.The existence of carrier and visual recovery imlied that mtDNA mutation was a primary cause of LHON,but other factors such as endocrine disorder might influence the pathogenesis of LHON. (Chin J Ocul Fundus Dis,1998,14:156-158)
Objective To explore the feasibility of identifying clonal origin of hepatocellular carcinoma (HCC) by analyzing the mitochondrial DNA D-Loop region variations. Methods Forty-two patients with a total of 112 HCC nodules consequentially hospitalized for radical resection of HCC in the department of hepatobiliary surgery of the First Affiliated Hospital of Guangxi Medical University from April 2004 to August 2007 were included for study group (multinodular HCCs). Control group included 20 cases of HCC (40 samples) hospitalized in the same period that consisted of two sub-groups: control groupⅠconsisted of 16 cases of single nodular HCC that each had two pieces of inconsecutive tumor tissues and control groupⅡconsisted of 4 cases of HCC with portal vein tumor embolus whose tumor tissues and portal vein tumor embolus were collected simultaneously. Normal control included 5 patients who were donors for liver transplantation or underwent liver trauma without any liver disease. Polymerase chain reaction (PCR) and direct sequencing were applied to study the mtDNA D-Loop region. The sequences of multinodular lesions were compared among different groups. Results For all the 42 cases of the study group, basic group variations appeared in 131 sites (131/1 122, 11.7%, the number 1 122 was the length of mtDNA D-Loop) with point mutation in 15 sites, insert in 9 sites, and deletion in 16 sites. And of all the variations in the study group, 98 were polymorphism. In study group, 20 cases were categorized as multicentric occurrence (MO) based on their variant mtDNA D-Loop sequences in each nodule from the same patient. And 22 cases were characterized as intrahepatic metastasis (IM) based on the identical mtDNA D-Loop sequences found in each nodule from the same patient. In all 20 cases in the control group, the inconsecutive tumor tissues or the portal vein tumor embolus and original tumors shared identical mtDNA D-Loop sequences. For the normal control group, basic group variations appeared in 14 sites, and they were all polymorphism including a new polymorphism (NT 479 Agt;G). Conclusions There is a high rate of changes in mtDNA D-Loop region. And our study speculates a novel discrimination of MO and IM origins among multinodular HCCs using PCR and direct sequencing of the mtDNA D-Loop sequences.
ObjectiveTo analyze the variation of perioperative concentration of mitochondrial DNA (mtDNA) in circulation system after cardiac surgery with cardiopulmonary bypass (CPB). MethodsBetween July and December 2014, 40 continuous patients underwent aortic valve replacement (AVR) and mitral valve replacement (MVR) in Department of Cardiovascular Surgery, West China Hospital, Sichuan University, including 16 males and 14 females with their mean age of 48.7±11.0 years and mean body weight of 59.0±6.9 kg. Perioperative mtDNA concentrations of circulatory blood were tested at different time points:before general anesthesia (T1), 1 min before CPB (T2), reperfusion of the ascending aorta (T3), 6 h after operation (T4), 24 h after operation (T5), 48 h after operation (T6). ResultsAll the surgeries were successfully performed without early death. Postoperative complications were low cardiac output syndrome in 3 cases and acute kidney failure in 1 cases. The concentration of mtDNA in circulation system rising gradually after CPB. The mtDNA concentration of T3, T4 and T5 were significantly higher than T1 (P < 0.05). The peak level was observed at T5 and the mtDNA concentration of T6 was still significantly higher than that of T1 (P < 0.05). ConclusionThe concentration of mtDNA in circulation system was rising after CPB and peak level appeared at 24 h after CPB.