Using Quick change method, some pairs of primers were designed and 4 types of point mutation were created in the plasma past of JAM-1 endothelial cell adhesive molecule; C end acid amin was removed; JAM.1 Ser 284 amino acide was replaced by Ala acide amin, Tyr 261 amino acide by Phe amino acide; Tyr 261 and 280 were replaced at same time by 2 amino acided. The vectors containing mutant JAM was installed successfully in the cultured cell clones and promoting the biosynthesis of JAM-1 mutant proteins into cell clones. 4 types of mutant JAM-1 had changed HUVEC cells morphologically, leading to functional changes of protein
Antigens ; mutation

Humans ; Kallmann Syndrome/genetics* ; Mutation, Missense ; Mutation

Brachydactyly type C is a limb malformation characterized by shortening of the second, third, and fifth middle and/or proximal phalanges, but it has variable phenotypic expressivity. Mutations in the growth differentiation factor-5 (GDF5) gene cause isolated brachydactyly C. Herein, we report a familial case with isolated brachydactyly type C characterized by brachymesophalangy of both second and third digits, with a GDF5 missense mutation, and discuss the phenotypic variability of the condition. Identifying more cases with genetic confirmation will help elucidate the clinical and genetic characteristics of this condition in the Korean population.
Brachydactyly* ; Extremities ; Mutation, Missense

Background: Salmonella typhi (S.typhi) is the major cause of human typhoid fever outbreaks. In fact, there were various typhoid fever outbreaks that occurred in China, and India that was caused by S.typhi strain without Vi antigen. Objective: To determine whether the S.typhi strains with mutation of gene encoding Vi antigen exists in Vietnam and the rate of mutation (if they exists). Subject and methods: 450 S.typhi isolates were collected in the Northern, Central and Southern Region of Vietnam during 1995 and 2005. The isolates were analyzed by the PCR method in order to detect mutants by using 2 primer pairs of tviB and DE. Results and Conclusion: There was no clear evidence on the relationship between the widely used Typhi Vi vaccine in Vietnam and the existence and spread of the mutation of gene encoding Vi antigen of S.typhi. 30 out of 450 isolates mutated losing the gene encoding of Vi antigen, making it 6.67%. These isolates were spread out between 1995 and 2005 throughout the Northern, Central and Southern Regions of Vietnam, with a peak in 1999. A noteworthy point was the rate of mutation of S.typhi losing the gene encoding of Vi antigen in Vietnam during the period of study. However, the mutation rate of S.typhi in Vietnam was still higher than the ratio of similar mutations being published in the other countries worldwide and higher than the recommended level of the World Health Organization.
gene mutation ; Salmonella typhi

The continuous mutation of many genes is fundamental changes in the period of cancer occurrence. The gene expression shows itself process of nitrogen base in DNA which plays the role of synthesis of information RNA and transport RNA in the protein synthesis. The 8 oxygen-G generation damages DNA which induces gene mutation in all oxygenation mutation that initiating the process of tumor occurrence. Therefore, the reduction of oxygen free radical will contribute to the reduction of development of tumors, changing from benign tumor to malignant tumor and the occurrence of cancer in clinical.
Free Radicals ; Mutation

57 rifampicin-resistant tuberculosis strains isolated from Ha Noi Institute of Tuberculosis and Lung Diseases and Pham Ngoc Thach Tuberculosis Center of Ho Chi Minh City were involved in this study. The regimen included 2-month SHRZ and 4-month HR. All of these strains were resistant to rifampicin. It was found that rifampicin-resistant tuberculosis strains had mutations on rpoB gene. The mutation frequency of tuberculosis trains isolated from Ha Noi and Ho Chi Minh City was highest on 526 locus (55% and 41.6%, respectively) and 531 locus (30% and 33%, respectively).
Tuberculosis ; Mutation ; Rifampin

50 samples of blood from patients diagnosed as betathalassemia in the center for blood transfussion and cryopreservation at minus 20oC and studied in the Mahidol University, where, DNA extracted by phenol and chloroform and the mutation analysed by technique of PCR and RDBH. The investigation of mutation that caused thalassemia help to establish the Center for the prenatal diagnosis, prevention and control of thalassemia in Vietnam.
beta-Thalassemia ; diagnosis ; mutation

An investagation was performed on 214 patients with the diagnosis of beta thalassemia in Ho Chi Minh City Hospital of Hematology and Blood Transfusion. Studying process composes of an extration of DNA and its multiplication in synthetic reaction chain of a 4 segment linking fractions and the detection of gene mutation with Bio-Rad’s kit of mD TM betha Gene. Results showed a demonstration of 8 mutations in the Rit of mDx, but some mutations such as CD95IVS1, CD19IVS5. The mutation type at the site of codon 26HbE (G-A) was at highest rate (31%) following with CD41-42, CD17, CD28. The application of the techniques of detection of various mutation has a necessary role in developing continues to improve the prevention of diseases.
Mutation ; Thalassemia ; Diseases ; epidemiology

During study in HIV/AIDS, US researchers of National Institute of Allergy and Infectious Diseases found that sometime gene mutations in immune-competent cells could help body have better resistance to cardiovascular diseases. These mutations are in some receptors of chemokines in membrane of immune cells. Results of experimental trial in mouse had gene mutation in receptor CX3CR1 showed that this mutant could make better resistance to high-risk factors and genetic factors in pathogenesis of cardiovascular diseases. This finding provided a new way to study drugs that have effects right on chemokine receptor CX3CR1 of high-risk patients with atherosclerosis
Cardiovascular Diseases ; Chemokines ; Mutation

Study used the methods of PCR-SSCP-sequencing to detect and identify point mutations in pbp1a gene, one of the genes involved in penicillin resistance of streptococcus pneuminiae. SSCP analysis result of PCR products from 19 clinical resistant and 1 susceptible strains allowed their classification into defferent groups depending on their electrophoretic pattern. This classification fits results obtained by sequencing. With improvement in the resolution capacity of SSCP, these methods could be used efficiently to investigate penicillin resistance in streptococcus pneuminiae
Streptococcus pneumoniae ; Mutation ; Genes