Purpose To investigate mitochondrial DNA (mt-DNA) mutations in optic neuritis of unknow reason (ONUR) and to assess the pathogenic and differential diagnostic values of screening for mt-DNA mutations in ONUR. Method Thirty patients with ONUR were screened for mt-DNA mutations by using SSCP,mutation-specific primer PCR and sequencing. Results mt-DNA mutations were found in 12 out of the thirty patients.All of the mutations were at 11778 position,but no one at 3460 and 15257. Conclusions Quite a number of patients (12/30,40%) with ONUR were caused actually by mt-DNA mutation．Screening for mt-DNA mutation in these patients has a pathogenic and differential diagnostic significance. (Chin J Ocul Fundus Dis,2000,16:78-79)
Objective To systematically evaluate the diagnostic efficacy of circulating tumor DNA (ctDNA) in hepatitis B viral hepatocellular carcinoma (HBV-HCC), and to study the clinical value of ctDNA. Methods The databases of PubMed, Embase, Web of Science, and Cochrane Library database were retrieved systematically from the establishment of the database to April 26, 2021. The characteristic information of literatures and the original data such as the sensitivity, specificity, and area under curve (AUC) of the receiver operating characteristic (ROC) curve were extracted. A meta-analysis was conducted by applying RevMan 5.3 and Stata 15.0 software. The combined sensitivity, combined specificity, positive likelihood ratio, negative likelihood ratio, and diagnostic odds ratio (OR) were calculated, ROC curve was plotted and the AUC was calculated, Deck’s funnel chart to assess publication bias, the Fagan diagram to test the diagnostic efficiency. Results Finally, 16 studies involving 3 744 patients were enrolled in this study, of which 1 852 were HBV-HCC patients, and 1 892 were HBV-infected patients without HCC. The meta-analysis results showed that ctDNA had a pooled sensitivity of 0.85 [95%CI (0.78, 0.90)], a specificity of 0.74 [95%CI (0.63, 0.83)], a diagnostic OR of 15.98 [95%CI (10.65, 23.99)], and the AUC of ROC was 0.87 [95%CI (0.84, 0.90)] in the diagnosis of HBV-HCC. The pooled sensitivity, specificity, diagnostic OR, and the AUC of ROC for ctDNA combined with AFP in the diagnosis of HBV-HCC were 0.86 [95%CI (0.80, 0.90)], 0.79 [95%CI (0.68, 0.87)], 22.69 [95%CI (13.64, 37.76)], and 0.90 [95%CI (0.87, 0.92)]. Meta-regression analysis found that the heterogeneity came from other non-covariate factors. The Fagan chart showed that while HBV-HCC was diagnosed by liquid biopsy-based on ctDNA, the probability of being diagnosed with hepatocellular carcinoma was 77%, if HBV-HCC was excluded, the probability of having the corresponding disease was 17%. Deek’s test showed no obvious publication bias (P>0.05). ConclusionsThe ctDNA can diagnose HBV-HCC with high sensitivity, specificity and accuracy, and can be used as a promising circulating biomarker in the early diagnosis of HBV-related HCC. The combination of ctDNA in serum and AFP is beneficial to improve the diagnostic accuracy of HBV-HCC.
Objective To evaluate the prognostic and pathobiologic significance of DNA content. Methods DNA content was conducted on 140 hepatocellular carcinoma patients by flow cytometry. Cancer recurrence was followed up after the patients were discharged. The statistical software used was SPSS. Results DNA ploidy did not correlate with clinicobiologic features, except with the age of the patients (Ｐ＜0.05), tumor size and AFP level (Ｐ＜0.01). The mean following up time of the patients with diploid was 31.2 months. The recurrence rate was 23.1%. In aneuploid group the mean following up time was 22.6 months. The recurrence rate was 50.0%. Ploidy correlated significantly with recurrence rate, the recurrence rate for patients with aneuploid were significantly higher than for those of diploid (Ｐ=0.013), also the recurrence rate of aneuploid within one year (37.9%) was much higher than that of diploid (4.3%) Ｐ=0.002. In a Logistic multivariate analysis of DNA content, the grade of cirrhosis severity and the tumor size were considered to be independent factors that related with recurrence. Conclusion FCM DNA analysis of radically resected HCC is a simple and valid method to predict the recurrence.
Objective To analyze the new primary mutation in Chinese people with Leberprime;s hereditary optic neuropathy (LHON). Methods Genomic DNA was collected from 260 suspected LHON patients and 100 normal healthy persons. The mitochondria DNA mutation at nucleotide position (NP) 15257 and the hot spot (14452-14601 bp) of ND6 gene which include the mutations at NP (14482, 14498, 14568, 14596, 14495, and 14459) were screened by using polymerase chain reaction (PCR), heteroduplex-single strand conformation polymorphism (HA-SSCP) and restriction fragment length polymorphism (RFLP) analysis and sequencing. Primary mutation spectrum of Chinese race was analyzed. Results Eight kinds of polymorphism of mitochondria DNA were found in 260 suspected LHON patients and 100 normal healthy persons, including NP 14488C, 14518G, and 14617G which hadnrsquo;t been reported (http://www.mitomap.org/). No mutation at NP 15257, 14482, 14498, 14568, 14596, 14495, and 14459 was found. Conclusion The NP 15257A may not be the primary mutation in Chinese. Because of the race difference, 14452-14601 bp in ND6 gene may not be the hot spot in Chinese patients with LHON, and other hot spots may exist. (Chin J Ocul Fundus Dis, 2006, 22: 82-85)
Objective To investigate the major types and clinical manifestations of mitochondrial DNA (mtDNA)mutations in Chinese patients with Leber′s hereditary optic neuropathy(LHON). Methods A total of 119 patients with bilateral optic neuropathy from 117 pedigrees, including 37 with determinate diagnosis of LHON(group A) and 82 with suspected LHON(group B),were tested for mtDNA mutations by using single-strand conformational polymorphism, mutation-specific primer polymerase chain reaction and sequencing. Pertinent clinical data and history of the patients with the 11778 mutation were collected. Results Nucleotide positions(np)11778 mutation and np 14484 mutation was found in 33 (89.2%) and 3 (8.1%) patients respectively in group A, while np 11778 mutation was obtained in 26（31.7%）in group B. No 3460 mutation was found in group A or B. The clinical manifestations of 59 patients with np 11778 mutation were as follows: acute or chronic visual loss，no ophthalmalgia, the age of onset of 10-25, and either a central or paracentral scotoma in perimetry. The visual recovery rate was 8.6%～11.6%. Conclusion Chinese patients with LHON have a very high incidence of np 11778 mutation and the clinical manifestations of the patients with np 11778 mutation are similar to those of Caucasian patients. (Chin J Ocul Fundus Dis，2004，20：78-80)
Objective To construct specifically expressed vascular endothelial growth factor (VEGF)165 gene in retina. Methods Rho promoter, specifically expressed in retina, was amplified by polymerase chain reaction (PCR) from the genomic DNA of a BLAB/C rat, then it was cut with restriction enzymes and cloned into the plasmid pcDNA3.1+-VEGF165 to form recombinant plasmid pcDNA3.1+-rho-VEGF165. The correct recombinant plasmid pcDNA3.1+-rho-VEGF165 was identified by restriction enzymes and PCR, and was transferred by jetPEI into cultured human navel vein endothelial cells and human retinal pigment epithelial (RPE) cells. The expression of VEGF protein in human navel vein endothelial and RPE cells was detected by immunocytochemical staining and protraction of the growth curve of the cells. Results In human RPE cells, the expression of VEGF protein was more in recombinant plasmidpcDNA3.1+-rho-VEGF165 than that in plasmidpcDNA3.1+-rho-VEGF165 ; in human navel vein endothelial cells, no obvious difference of the expression of VEGF protein between recombinant plasmid pcDNA3.1+-rho-VEGF165 and plasmid pcDNA3.1+-rho-VEGF165 was found. Conclusions The construction of pcDNA3.1+-rho-VEGF165 carrier may provide the basic material for the study of the nosogenesis of VEGF in retinal neovascularization, and establish the foundation to set up the model of transgenic mice with VEGF specific expressing in retina. (Chin J Ocul Fundus Dis, 2005,21:106-108)
A microsatellite is a short, repetitive sequence of DNA (usually 2 to 4 nucleotides in length). Multiple primary lung cancers (MPLC) are more than one primary lung cancer lesions arising synchronously in different locations of the same or different side of the lung. These neoplasms may have same or different histological types, but one lesion is not a metastasis from another, as each neoplasm arises independently in the lung. Abnormal microsatellite changes are closely related to the pathogenesis and development of MPLC. In this review, several aspects are discussed:①definition and origin of microsatellite; ②abnormal changes of microsatellite; ③definition and categories of MPLC; ④the influence of microsatellite on early diagnosis, treatment and prognosis of MPLC.
ObjectiveTo explore advances in clinical applications of circulating tumor DNA (ctDNA) for early diagnosis of breast cancer.MethodReviewed on the latest literatures about studies of advances in clinical applications of ctDNA for early diagnosis of breast cancer.ResultsctDNA was a cell-free DNA generated by tumor cells that contained tumor-associated mutations and could dynamically reflect the entire picture of the tumor genome. It was a very important potential tumor biomarker. ctDNA had been widely used in a variety of tumors for early diagnosis, curative effect assessment, and prognosis evaluation due to its advantages such as small trauma and real-time monitoring, and its role in breast cancer had attracted more and more attention.ConclusionEarly diagnosis is critical to improve the breast cancer patients’ overall survival rate and ctDNA plays an important role in early diagnosis and early detection of recurrence and metastasis of breast cancer.
ObjectiveTo compare the function and action pathways of VEGFA, VEGFB and VEGFC in VEGF family of mouse eye.MethodsUsing the BXD mouse gene data in Genenetwork database as template to compare and study the similarities and differences of VEGFA, VEGFB and VEGFC molecular pathways or potential functions in the whole genome expression spectrum of BXD recombinant mouse inbred line population, with multiple analytical methods and statistical strategies were used, such as gene expression level, target genes comparison, top genes comparison associated to target genes, expression Quantitative Trait Loci (eQTL).ResultsMatrix comparison showed strong positive correlation between two probes of VEGFC (r=0.732, P＜0.01), weak correlation between VEGFA 1420909 and VEGFC 1440739, VEGFA 1451959 and VEGFC 1451803, VEGFC 1419417959 and VEGFC 1439766, VEGFC 1451803 and VEGFC 1439766 (P＜0.05); there was no correlation between VEGFA 1420909 and four other genes except VEGFC 1440739, VEGFA 1451959 and VEGFC 1440739, VEGFB 1451803 and VEGFA 1420909/VEGFC 1419417/VEGFC 1440739 (P ＞0.05). In the comparative analysis of the relevant Top50 genes of each VEGF gene, most of the genes in BXD mouse were not significantly correlated with VEGFA, VEGFB and VEGFC except for the weak association of individual related genes. The results of eQTL analysis showed that each probe of VEGF gene was located on different chromosomes.ConclusionsThe expression levels and positive and negative correlations of VEGFA, VEGFB and VEGFC were different in the VEGF family of mouse eye, suggesting that these genes may play their role through different pathways.
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)