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INDONESIA
Journal of Biomedicine and Translational Research
Published by Universitas Diponegoro
ISSN : -     EISSN : 25032178     DOI : -
Core Subject : Health, Science,
Biochemistry, Genetics & Molecular Biology Medicine & Pharmacology
Journal of Biomedicine and Translational Research (JBTR) is an open access, international peer-reviewed journal that considers articles on: clinical medicine, molecular medicine, tropical medicine, infectious diseases, cardiovascular medicine, molecular biology, genetics, immunology, microbiology, biochemistry, and pharmacotherapy with particular interest on the link between clinical and basic research called translational research.
Arjuna Subject : -
Articles 2 Documents
 1 
Search results for , issue "Vol 1, No 2 (2015): December 2015" : 2 Documents clear
JAK2 V617F Analysis in Indonesian Myeloproliferative Neoplasms Patients Fanti Saktini; Santosa Santosa; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 1, No 2 (2015): December 2015
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (262.257 KB) | DOI: 10.14710/jbtr.v1i2.63

Abstract

Background : Three subtypes of myeloproliferative neoplasms (MPNs): Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) showed overlapping phenotype. There has been no specific cytogenetic marker identified in these subtypes. JAK2 V617F mutation prevalence in Caucasian MPNs was first reported as 97% in PV, 57% in ET, and 50% in PMF.Objective: This study was done to define the prevalence of JAK2 V617F mutation and to identify cytogenetic markers in MPNs.Methods : The study design was cross-sectional. Patients who were admitted to Dr. Kariadi Hospital with clinical diagnosis of MPNs were referred for bone marrow cytogenetic analysis in Telogorejo Hospital. JAK2 V617F mutation was tested for using Amplification Refractory Mutation System Polymerase Chain Reaction (ARMS-PCR) from peripheral blood vein. Clinical data were secondary data retrieved from hospital medical records.Results :  There was no cytogenetic abnormality found in all MPNs patients. The prevalence of JAK2 V617F mutation in MPNs patients was 73,68%. Mutation prevalence distribution in each subtypes were 100% in PV, 63,6% in ET and 100% in PMF. Conclusion : Chromosomal abnormality was not found using conventional cytogenetic analysis. More sensitive methods might elucidate submicroscopic chromosomal abnormalities in these patients. The prevalence of JAK2 V617F mutation was comparable with studies in Caucasian. It is recommended that JAK2 V617F testing should be incorporated in the management therapy of MPNs in Indonesia.
Frequency of MTHFR GENE C677T Polymorphism for Non-Syndromic Autism Spectrum Disorder Patients Bremmy Laksono; Ani Melani Maskoen; Tri Indah Winarni; Syarief Taufik; Sultana MH Faradz
Journal of Biomedicine and Translational Research Vol 1, No 2 (2015): December 2015
Publisher : Faculty of Medicine, Diponegoro University

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (101.554 KB) | DOI: 10.14710/jbtr.v1i2.61

Abstract

Background: The folate metabolism is a pathway that may involve in the non-syndromic Autism Spectrum Disorder (ASD). Methylenetetrahydrofolate reductase enzyme has a key role in folate metabolism. The C677T polymorphism of MTHFR gene could reduce the effectiveness of the enzyme.Objectives: To evaluate the frequency of MTHFR geneC677T polymorphism for non-syndromic ASD patients.Method: Thirty-four DNA samples were taken from each group. PCR mixture was consisted of 1µL DNA, 2.5µL PCR buffer, 0.5µL dNTP, 1.5µL MgCL2, 0.125µLTaqenzyme, 0.5µLofforwardandreverseprimerandaquabidesttoreach a volume of 25 µL. The PCR profiles were initiation 95ºC for 5 min, denaturation 94ºC for 1min, annealing 55ºCfor 45 seconds, and elongation 72ºC for30 seconds. The cycles were done in 35 times an dfinal elongation was at 72ºC for 5min. The PCR product was 198bp, and then digested by the Hinfl enzyme for 16hours at 37°C, and visualized using2%agarosegeland then electrophoresed for 30 minutes at 100 volts.Result: Non-syndromic ASD samples showed none had homozygote mutant type (677TT), 3 (8.8%) samples had heterozygote (677CT)and 31 (91.2%) samples had wild type (677CC). Meanwhile, normal control showed only 1 (2.9%)sample had homozygote mutant type(677TT), 9 (26.5%) samples had heterozygote (677CT)and 24 (70.6%) samples had  wild type (677CC).Conclusion: The frequency of MTHFR geneC677T polymorphism in patients with non-syndromic ASD and controls are not significantly different.

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