MUTASI SUBSTITUSI PYRIMIDINE MENJADI PURINE PADA HVSI DNA MITOKONRIA MANUSIA TORAJA

• Main Author: ANITA, SYAHFITRI
• Format: Final Project
• Language: Indonesia
• Subjects: Kimia
• Online Access: https://digilib.itb.ac.id/gdl/view/71555
• Institution: Institut Teknologi Bandung

Mitochondria has its own genetic material that maternaly inherited. This inheritance pattern could have many applications i.e forensic, evolution and genealogy study, particularly the hypervariable segment 1 (HVS1) and hypervariable 2 segment (HVS2). There are a lot of work concerning HVS1 and HVS2 of Indonesian mtDNA, yet more work to be done for the mtDNA data of Toraja ethnic. In this research, epithelia cells in the saliva collection was lysed to obtain DNA template, then was amplified using Polymerase Chain Reaction (PCR) method, followed by sequencing of the amplified mtDNA using Dideoxy Sanger method along with nucleotides analysis using SeqmanTM version 4.0.0 and Mito Mutation Analyzer (MMA). Analysis of PCR product showed 0.4 kb band on the agarose gel electrophoresis. Samples electrophoregraph along with HVS1 nucleotide sequence for each people was obtain through sequencing process. PCR result indicated that HV1 fragment was successfully amplified which also mean lysis process was successfully done. Comparison of HVS1 samples to Cambridge Reference Sequence (CRS) demonstrated 37 mutations. Comparison of HVS1 nucleotide sequence samples with the HVS1 mutation primer database and with Mitomap indicated 27 and 18 mutations respectively which have not yet been published. These 18 mutations reveals transversion substitution that dominant from pyrimidine to purine. It can be concluded that there is a possibility of specific mutation in Torajan ethnic.