MUTATION DISTRIBUTION PATTERN ANALYSIS OF HUMAN MTDNA USING HUMAN MTDNA MUTATIONAL ANALYZER (HUMAN) SOFTWARE

• Main Author: Suci Latuconsina, Abdullah
• Format: Final Project
• Language: Indonesia
• Subjects: Kimia
• Online Access: https://digilib.itb.ac.id/gdl/view/34664
• Institution: Institut Teknologi Bandung

Knowledge of mtDNA mutation has been applied in many areas of health, anthropology, forensics etc. Identification of mtDNA mutation is typically carried out through alignment of mtDNA sequence with the specified references sequence. The absence of software that can detect the position and determine a type of mutation simultaneously has made the analysis become time consuming and ineficient. In this work, we have created a software with high level of portability and accuracy that is named as HuMan (Human mtDNA Mutational Analyzer). This software was wrote with C# programming language and was designed based on Hirschberg algorithm. We have used the software to analyze a distribution pattern of human mtDNA mutations occured in the region of HVSI and HVSII with the amount of samples in each region were 4689 and 663, respectively. A sample of mtDNA sequence obtained from GenBank was then analyzed using an alignment feature in HuMan program to obtain the type and position of mutation. In this analysis, we used revised Cambridge Reference Sequence (rCRS) as the reference. Time to analyze the entire sample by using this program was around 20-30 minutes with the memory usage was less than 10 MB RAM and processor usage was up to 50% in the case of complex mutations, and 13% in a simple mutation. The result from HuMan program was further processed using Microsoft Excel® to obtain the distribution pattern. The analysis of type mutations in HVSI region revealed that there are 273,571 mutations for deletion, 178,671, and 90,995 mutations for insertion and substitutions, respectively. Cytosine bases in all types of mutations is the most highly mutated, in which 36% was found in deletion, while 31% and 35% were found in insertions and substitutions, respectively. While for HVSII region, the result showed that there are 36,320 deletional mutation but in this case Thymine is the most mutated base (29%). In case for the other type of mutations, we found 19,736 of insertional mutations where cytocine is the most inserted base (32%), and 13,484 of substitutional mutations where thymine is the most substituted base (27%).