Publication: Detection of 9-BP deletion in coii/trnalys intergenic region of mitochondrial DNA among Melanau ethnic group
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Date
2026-02
Authors
Hasanuddin, Nur Syaqirah Ahmad
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Abstract
Mitochondria are essential organelles in organism responsible for cellular energy production, which is necessary for metabolic reactions. It has its own genetic material called mitochondrial DNA (mtDNA) and has interesting features such as maternal inheritance, high mutation rate, high copy number and lack of recombination. MtDNA has been applied in forensic identification to solve forensic cases and is also used in population genetics studies. One of the mtDNA polymorphisms used in population genetics studies is located between cytochrome c oxidase II (COII) and lysine tRNA (tRNALys) genes, consisting of the two copies of a 9-bp tandem repeat sequence (CCCCCTCTA). Deletion of on copy in this tandem is used as a characteristic for mtDNA haplogroup B. This study aimed to detect the presence of the 9-bp deletion in the COII/tRNALys intergenic region of mitochondrial DNA among Melanau individuals through PCR amplification and agarose gel electrophoresis. Genomic DNA was extracted from the whole blood samples and assessed for quality and quantity to ensure sufficient DNA for downstream analysis. PCR amplification of the target region was performed using primers 8215F and 8385R. The findings show that 24 Melanau individuals (20%) had 9-bp deletion, and this distribution is supported by the previous studies that 9-bp deletion is frequently observed in the population of mainland southeastern Asia, Island southeast Asia and Southwest Asian.
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