Objective To investigate the impact of genetic and environmental factors on mental health status and to estimate the prevalence of subclinical psychiatric symptoms and psychological problems in child and adolescent twins, by using the Strengths and Difficulties Questionnaire (SDQ). Methods A total of 59 pairs of twins aged 6-16 years were recruited with support from educational committees and schools. After the guardians of these twins had signed an informed consent form, SDQ were completed by the parents and teachers of these twins to investigate their mental health status. Buccal mucosa samples were collected from all twins for DNA extraction and zygosity identification test. Results The intrapair correlation coefficients of monozygotic twins were significantly different from those of dizygotic twins in terms of emotional symptoms, inattention-hyperactivity, peer problems, impact and diagnostic predictions (including any psychiatric disorder, emotional disorder, oppositional/conduct disorders, ADHD/hyperkinesis). The results from the SDQ screening questionnaire showed that up to 37.5% of the studied twins were suffering from a psychiatric disorder, including emotional disorder (5.5%), oppositional/conduct disorder (29.7%), and ADHD/hyperkinesis (14.8%).Conclusion Genes plays an important role in the mental health status of child and adolescent twins. More attention should be paid to the mental development and mental health in these twins, because of the considerable prevalence of subclinical psychiatric symptoms and psychological problems.
In order to observe the role of genetically modified Schwann cell (SC) with pSVP0Mcat in the regeneration of injured spinal cord, the cells were implanted into the spinal cord. Ninety SD rats were used to establish a model of hemi-transection of spinal cord at the level of T8, and were divided into three groups, randomly, that is, pSVP0Mcat modified SC implantation (Group A), SC implantation (Group B) and without cell implantation as control (Group C). After three months the presence of axonal regeneration of the injured spinal cord was examined by means of horseradish peroxidase (HRP) retrograde labelling technique and stereography. The results indicated that HRP labelled cells in Group A and B could be found in the superior region of injured spinal cord and the brain stem such as the red nuclei and oculomotor nuclei. The density of ventral hom neurons of the spinal cord and the number of myelinated axons in 100 microns of the white matter was A gt; B gt; C group. In brief, the pSVP0Mcat modified SC intraspinal implantation could promote regeneration of the injured spinal cord.
Objective To summarize the current progress in the genetic modification of vascular prostheses and to look forward to the future of genetic modification in vascular prostheses. Methods PubMed onl ine search with the key words of “vascular prostheses, gene” was undertaken to identify articles about the genetic modification of vascular prostheses. Then these articles were reviewed and summarized. Results To improve long-term patency of vascular prostheses, various genes were transfected into seeded cells. The antithrombosis activity of local vessels increased. Conclusion Progresses in tissue engineering and molecular biology make possible endothel ial ization and genetic modification of vascular prostheses. However, because most relevant researches are still basic experiments, further study is needed before cl inical appl ication.
PURPOSE:To investigate mitochondrial DNA(mtDNA) of Leber's hereditary optic neuropathy(LHON). METHODS:Polymerase chain reaction(PCR)method was used to analyse mtDNA of 11 patients in a pedigree with LHON and 4 control subjects from none LHON pedigree. RESULTS:There was a loss of a restriction site for the restriction endonuclease SfaN.Ⅰin Ihe Patients with LHON. In this pedigree,maternal lineage was regarded a carrier of the pathogenic gene. CONCLUSIONS:The patients with Leber's hereditary optic neuropathy have a point mutation in mtDNA,which results in loss ol SfaN I endonuclease restriction site .and this change is one of mechanisms inducing this disaese. （Chin J Ocul Fundus Dis,1997,13: 27-29）
Coats disease is a relatively rare and idiopathic disorder characterized by retinal telangiectasia and massive intra-retinal and (or) sub-retinal lipid accumulation, resulting in complications including retinal detachment and neovascular glaucoma. Previous reports have revealed that Coats disease can be associated with other disorders, especially some inherited diseases, such as retinitis pigmentosa (RP) and facioscapulohumeral muscular dystrophy (FSHD). Coats disease associated with other inherited disorders is generally called Coats-like retinopathy, which has some unique features that differs from the classic Coats disease, for example there is no sex and age preference, more bilateral cases, more severe cases and more genetic factors involved. Patients of Coats-like retinopathy with RP and FSHD may have mutations in Crumbs homologue gene 1 and D4Z4 genes.
Objective To observe the effect of RNA interference (RNAi) on HepG2 hepatic cancer cell by small interfering RNA (siRNA). Methods siRNA targeting vascular endothelial growth factor (VEGF) gene was transfected into HepG2 cells by LipofectimineTM 2000. The VEGF mRNA and protein were respectively detected by real-time quantitive PCR and Western blot, and the concentration of VEGF protein in the cell culture supertant was determined by ELISA at 48 h after culture. Results The average efficiency of siRNA transfection was (90.4±2.9)% after 6 h cell culture. The expressions of VEGF mRNA and protein in HepG2 cells could be effectively suppressed by siRNA, and the concentration of VEGF protein in the cell culture supertant was also decreased. Conclusion siRNA can knock down the expression of VEGF gene and decrease the concentration of VEGF protein in HepG2 cells.
Clinically, fracture nonunion often leads to pain and disability in patients. Fracture nonunion often requires additional surgery to restore skeletal muscle function, so the treatment of fracture nonunion has always been a difficult point in the field of orthopedics. In recent years, with the development of genetic engineering, the technology of using gene to treat fracture nonunion has been widely studied. A large number of experiments have confirmed that the target genes encoding growth factors related to fracture healing are introduced into target cells through different delivery methods in vivo or in vitro, thereby expressing specific growth factors can promote fracture healing, which provides a new way for treating fracture nonunion. This article will discuss the research status of different delivery methods of osteogenic genes, as well as their advantages and disadvantages, in order to provide a theoretical basis for targeted gene therapy for fracture nonunion.
ObjectiveThrough Sequenom iPEX system analyzed the genetic susceptibility in patients with Medial temporal lobe epilepsy (MTLE) which screening hyperpolarization-activated cyclic nucleotide gated channel (HCN) subunit HCN1 and HCN2 single nucleotide polymorphism blood samples. MethodsPatients with epilepsy who were diagnosed MTLE in our epileptic clinic from December 2013 to April 2016 were included in this study, total 143 cases. Healthy volunteers who received annual physical checkups were recruited to serve as controls total 120 cases. The group enter criterion according to a 2004 ILAE report mainly:①12~55 years old; ②attack forms:partial onset seizures or secondary tonic-closure-clonus attack, a common onset symptoms such as stomach gas rise feeling, sense of deja vu, automatism etc.; ③with or without febrile convulsions history; ④EEG displayed unilateral or bilateral temporal spike, sharp slow wave, or their spines slow-wave sample such as epilepsy wave; ⑤head MRI displayed hippocampal sclerosis. Exclusion criteria:①tumors; ②head MRI display focal cortical dysplasia (FCD). Using sequenom iPLEX technology platform to detect all the object of study of gene polymorphism sites total ten sites. All statistical tests were conducted using SPSS version 16.0. Resultsall sites fulfilled Hardy-Weinberg genetic balance. The results showed that HCN1 rs17344896 C/T, rs6451973 A/G and HCN2 rs12977194 A/G three polypeptide sites associated with MTLE, with statistical differences(P < 0.05). ConclusionHCN1 and HCN2 genetic suscepibility is one of possible mechanism of MTLE.
Optogenetics is a novel technique which combines optics with genetics. Using genetic means, a selected opsin protein is ectopically expressed in target neurons, which are then stimulated by light to moderate the neuronal circuit, as a consequence to regulate the animal's behaviors. Retinal degeneration like retinitis pigmentosa and aged macular degeneration causes visual impairment and eventual blindness. Optogenetics techniques have opened the door to creating artificial photoreceptors in the remaining retinal circuits of retinal degeneration retinas via gene therapy. However, there are still limitations in optogenetics technique, for example, potential risk in virus infection, the choice of target cells and the low visual resolution of the experiment animal. It has been reported that vision was successfully restored to a certain extent in animal model using optogenetics technique. With higher photosensitivity of opsin protein, longer activation kinetics and higher transfection efficiency of virus vector, optogenetics techniques' application in ophthalmology will be improved.
Objective To summarize the advancement of hereditary thrombophilia. Methods Relevant literatures about hereditary thrombophilia published recently domestic and abroad were reviewed and analyzed. Results The hereditary risk factors of venous thromboembolism were different among different races. In western population, the main risk factors were activated protein C resistance (APC-R) and mutation of factor V Leiden, methylene tetrahydrofolate reductase polymorphism (C677T) and prothrombin G20210A. While in Chinese population, the disorder of protein C system and hyperhomocysteinemia were the major genetic risk factor. The existence of multiple genetic risk factors increased the incidence of primary and recurrent venous thromboembolism. Conclusion Further study on the relations between the hereditary risk factors and thrombophilia will be very important for prediction and prevention of the venous thromboembolism.