MUTATION PATTERN DETERMINATION OF 3846 HUMAN MTDNA ON HVSI REGION EMPLOYING

• Main Author: Nurchaedi, Iman
• Format: Theses
• Language: Indonesia
• Subjects: Kimia
• Online Access: https://digilib.itb.ac.id/gdl/view/6263
• Institution: Institut Teknologi Bandung

</i><b>Abstract:</b><br /><br /><br /><br /> Mitochondrial DNA (mtDNA) has a high level of polymorphism and mutation rate due to the absent of proofreading in the replication process. D-loop is one of the interesting region in mtDNA and consist of two segment, Hypervariable Segment I and II (HVS I and II), which has the highes level of mutation rate and polymorphism.There are many research on mutation analysis on this region, but the available software considered to be difficult and takes a long times to do. The aim of this work is to obtain mutation pattern of HVSI mtDNA from the public database. The research consist of three steps they are downloading mtDNA data from GenBank website, developing a user friendly software called Human mtDNA Analyzer from the existing Mito Mutation Analyzer programe, and performing mutation analysis. Nucleotides data of 3846 HVSI human mtDNA region were succesfully downloaded, processed, and analyzed. Mutation analysis emplyoing the above software showed that the single nucleotide point mutation was the most abundant kind of mutation, followed by insertion and deletion types. The pattern of mutation in HVSI mtDNA region showed that the substitution of C16223T, deletion of C16189, and insertion 16185C have the procentage valus of 41 %, 4.3%, and 1.5 % respectively. The mutation patterns of HVSI mtDNA region presented here expected to give benefits to the forensic, anthropology and mitochondrial diseases research.