VARIATION ON D-LOOP SEQUENCES OF HUMAN MITOCHONDRIAL DNA OF THREE CONSECUTIVE GENERATIONS

Human mitochondrial DNA (mtDNA) has a high mutation rate. Accumulation of mtDNA mutations can cause a decrease in tissue functions that lead to degenerative diseases. Various studies have been conducted to investigate mtDNA mutations associated with aging problem. It showed that the accumulation of...

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Bibliographic Details
Main Author: Pramasari, Anindita
Format: Final Project
Language:Indonesia
Subjects:
Online Access:https://digilib.itb.ac.id/gdl/view/35072
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Institution: Institut Teknologi Bandung
Language: Indonesia
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Summary:Human mitochondrial DNA (mtDNA) has a high mutation rate. Accumulation of mtDNA mutations can cause a decrease in tissue functions that lead to degenerative diseases. Various studies have been conducted to investigate mtDNA mutations associated with aging problem. It showed that the accumulation of mutations of mtDNA increased with ages. Mutational study of 120-year-old Indonesian mtDNA had been done, but its maternal relationship had not been analyzed. In this research, analyses to identify nucleotide variations in mtDNA D-loop region in the 115-year-old individuals with two individual offspring were carried out. Template of mtDNA was obtained from the lysis process of hair root cells and then amplified by Polymerase Chain Reaction (PCR). Visualization of PCR was done using agarose gel electrophoresis. To determine the nucleotide sequence by sequencing, then the results were compared with the Cambridge Reference Sequence (rCRS). The amplified fragment of the D-loop was obtained, one band of 0.9 kb size. Analysis of sequencing results showed that there are differences in nucleotide sequence between individuals aged 115 years with their offspring, which is found more insertions in the 115-year-old individual. To identify other mutations associated with aging, we need to analyze mtDNA in other areas.