Objective To explore whether the polymorphism of transforming growth factor β1 (TGF β1) gene at 869T/C and 915G/C loci contributes to the genetic susceptibility to hypertension. Methods Assessed under the same criteria, all case control studies on relationship between the polymorphism of TGF β1 gene and hypertension were searched in both English and Chinese databases. All articles retrieved were screened and evaluated, and meta-analyses were conducted with RevMan 5.1 software. Results A total of 14 case control studies were included. The results of meta-analyses showed TGF β1 gene C allele was related to hypertension (OR=1.37, 95%CI 1.21 to 1.54). It was noted that individuals with CC genotype and TT genotype had a significant increased risk of hypertension (OR=1.43, 95%CI 1.27 to 1.60; OR=0.64, 95%CI 0.53 to 0.78, respectively). And there was no b evidence showing that TGF β1 915G/C genetic polymorphism was related to hypertension. The results from meta-analyses of the studies based on Chinese population on the two loci were in consistent with the outcomes of overall meta-analyses. Sensitivity analyses indicated the results were stable. And publication bias was not present, reflected by P values from Egger’s regression asymmetry test and Begg’s adjusted rank correction test. Conclusions 869T/C polymorphism of TGF β1 gene is associated with hypertension. C allele is potentially one of the genetic risk factors for hypertension. Present studies do not support a direct relationship between 915G/C polymorphism TGF β1 gene and hypertension.
Objective To investigate the influence of CYP2C9 3，VKORC1-1639 G＞A and CYP4F2 rs2108622 genetic polymorphisms on warfarin dosages of patients after heart valve replacement. Methods A total of 133 patients undergoing heart valve replacement in the Department of Cardiovascular Surgery of Fujian Provincial Hospital from November 2011 to August 2012 were included in this study. Polymerase chain reaction（PCR）gene sequencing was performed to detect CYP2C9 3，VKORC1-1639 G＞A and CYP4F2 rs2108622 genetic polymorphism of these 133 patients. Patients were grouped according to their genotypes，and average warfarin dosages were compared between different genotype groups. Results The frequencies of CYP2C9 3 AA，AC and CC were 127 patients，6 patients and 0 patient respectively，and average daily warfarin dosages were 3.75 mg and 2.13 mg respectively which were statistically different between differentCYP2C9 3 genotypes （P＜0.05）. The frequencies of VKORC1-1639 G＞A GG，GA and AA were 3 patients，32 patientsand 98 patients respectively，and average daily warfarin dosages were 6.00 mg，4.50 mg and 3.00 mg respectively which were statistically different between different VKORC1-1639 G＞A genotypes （P＜0.05）. The frequencies of CYP4F2 rs 2108622 CC，CT and TT were 67 patients，59 patients and 7 patients respectively，and average daily warfarin dosages were 3.00 mg，3.75 mg and 4.50 mg respectively which were statistically different between different CYP4F2 rs2108622 genotypes（P＜0.05）. Conclusion CYP2C9 3，VKORC1-1639 G＞A and CYP4F2 rs2108622 genetic polymorphisms are associated with individual difference of warfarin dosages of patients after heart valve replacement.
The autograft and non-autograft cannot meet the needs of clinical vascular surgery. Since there are possibilities of thrombus formation in artificial vascular grafts, the methods for deposing the graft using physical and chemical ways or simply seeding with endothelial cells cannot produce satisfactory grafts for vascular operations until now. In order to increase the anticoagulative capacity of artificial vascular graft, it is rational to use genetic engineering methods modifying the endothelial cells to make it express anticoagulative factors stably. Although seeding artificial graft with the genetically engineered endothelial cells can possibly produce a satisfactory graft for vascular surgery, some problems still need to be solved.
Objective To review the relationshi p between heritable hypercoagulable state (HHCS) and avascular necrosis of femoral head (ANFH). Methods The latest original articles about the relationshi p between HHCS and ANFH were extensively reviewed. Results Several genetic mutations which could cause HHCS, such as thrombophilic factor V G1691A gene, thrombophilic factor II G20210A gene, 5, 10-methylenetetrahydrofolate reductase C677T gene, plasminogen activator inhibitor 1 4G/5G, and tissue factor pathway inhibitor gene, may be genetic risks of ANFH. Conclusion HHCS may be a genetic cause of ANFH. Further studies are needed to confirm the relationship between HHCS and Chinese ANFH.
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.
Objective To investigate the relationship between p53 codon 72 polymorphism and susceptibility to keloid. Methods The p53 genotypes were detected by polymerase chain reactionreverse dot blot(PCRRDB) and DNA direct sequencing among 15 healthy controls and 15 patients with keloid. Results The frequency of the Proallele(P=0.035) and Pro/Pro genotype(P=0.030) in patients was significantly higher than that in the controlls. There was no significant difference in the frequency of Pro/Arg and Arg/Arg genotypes between patients and controls. Conclusion The p53 gene codon 72 polymorphism may play a role in susceptibility to keloid.
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.
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）
Objective To systematically evaluate anti-platelet effect of clopidogrel influenced by CYP2C192,3 polymorphism in patients with cardiovascular diseases, in order to provide references for its safe medication. Methods Literature was retrieved in electronic databases covering EMbase, PubMed, The Cochrane Library, CBM and CNKI from establishment dates to November, 2011. Observational studies and clinical trials were included, cross-checked, assessed and pooled for meta-analysis. meta-analysis was performed using the software RevMan 5.1. Results A total of 13 articles including 14 trials (n=36 855) were included. The results of meta-analysis showed that: a) there was no significant difference in the incidences of cardiovascular events between CYP2C192,3 carriers and CYP2C191 carriers; b) the risk of stent thrombosis in CYP2C192,3 carriers was significantly higher than that in CYP2C191 carriers (Plt;0.000 1), and the relative risk of CYP2C192,3 carriers increased 92% within one month (Plt;0.000 1); c) as for bleeding events, there were no significant differences between CYP2C192,3 carriers and CYP2C191 carriers. Conclusion Compared with CYP2C191 carriers, CYP2C192,3 carriers have a higher risk of stent thrombosis in clopidogrel-treated patients, but there are few differences in cardiovascular and bleeding events between the two carriers. Therefore, CYP2C192,3 carriers with cardiovascular diseases and ready to receive PCT are suggested to pay more attention to stent thrombosis when using clopidogrel. We propose that patients with cardiovascular diseases and ready to receive PCT should have CYP2C19 tests to determine the use of antiplatelet drug (clopidogrel) to avoid thrombus.
Objective To investigate the impact of genetic factors on mental health status in child and adolescent twins. Methods A total of 102 pairs of twins aged 6 to 16 years were recruited with the support from educational committees and schools. After the guardians of these twins had signed an informed consent form, the Chinese version growth and the state of health evaluation (Development and Well-Bing Assessment, DAWBA) were completed by the parents of these twins to investigate their mental health status. Buccal mucosa samples were collected from all twins for DNA extraction and zygosity identification test. Result A total of 102 pairs of twins were recruited, among whom 93 pairs finished the investigation, including 50 monozygotic pairs and 43 dizygotic pairs. The results of emotional symptoms and behavior symptoms and the impact of symptoms from the DAWBA screening questionnaire showed that the intrapair correlation coeficien of the emotional disorder and the oppositional/conduct disorder and the impact in monozygotic twins were more remarkable than those in dizygotie twins, including separation anxiety (MZ group correlation coefficient (r) = 0.821, Plt;0.01; DZ group r=0.348, Plt;0.01), generalized anxiety (MZ group r=0.546, Plt;0.01; DZ group r=0.309, Plt;0.01), a special terror symptoms (MZ group r=0.849, Plt;0.01; DZ group r=0.726, Plt;0.01 ), and oppositional defiant / conduct disorder (MZ group r=0.237, Plt;0.01; DZ group r=0.163, Plt;0.01), attention deficit - hyperactivity disorder (MZ group r=0.640, Plt;0.01; DZ group r=0.198, Plt;0.01), autistic symptoms (MZ group r=0.680, Plt;0.01; DZ group r=0.372, Plt;0.01). Conclusion Genetic factors play an important role in mental health status of child twins.