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

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

The study was performed on 20 couples samples of nasopharyngeal carcinoma patients in K hospital in Hanoi. The findings indicated that: the prevalence of LMP1-EBV gene in peripheral blood of healthy persons was 96.7% (29/30 positive cases); the prevalence of LMP1-EBV gene in 20 UCNT nasopharyngeal carcinoma patients was 100% (20/20 positive cases); the prevalence of LMP1-EBV gene in 20 patients with other head and neck tumors was 100% (5/5 positive cases). On electrophoresis, 90% biopsies of nasopharyngeal carcinoma patients had deletion in LMP1 gene, while LMP1-EBV gene in peripheral blood of these patients, there were only 10% having deletion mutations.
Neoplasms ; diagnosis ; Mutation ; Genes ;

The study was carried out in six stored blood by CPD-A1, at the first, 4th, 14th, 21st, 28th, 35th and 42nd days of the blood stored. The results showed that: The plasma glucose and pH; 2.3-DPG concentration were decreased, plasma lactat was increased gradually during blood stored by time, the difference was significantly than that in the first point of time with p<0.001. The plasma G-6-PD and PK activities were significantly decreased during blood stored by time.
Biological Markers ; Blood ; 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