Publication: Using PCR-RFLP analysis of the mitochondrial coding region
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Date
2026-01
Authors
Ramu, Rohen
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Abstract
Variations in mitochondrial DNA (mtDNA) genome provides valuable insight into maternal ancestry and population history, particularly among indigenous groups that remain underrepresented in genetic studies. This study analyzed the distribution of mtDNA macrohaplogroup M in the Murut ethnic group using polymerase chain reaction with restriction fragment length polymorphism (PCR-RFLP) analysis of the mitochondrial coding region. Genomic DNA was extracted from blood samples obtained from 100 unrelated Murut individuals, followed by amplification of a 310 bp fragment containing informative polymorphic sites within the coding region. Haplogroup classification was determined through restriction digestion using Alu I and Dde I enzymes targeting nucleotide positions 10,397 and 10,394, respectively. The restriction PCR fragment patterns enabled reliable differentiation between macrohaplogroup M and non-M lineages. The macrohaplogroup M is less frequently (0.25) distributed in Murut as compared with other ancestrally and linguistically related populations such as Malays (0.57). The Murut’s traditional settlement patterns, limit gene flow with coastal or migrant populations, and relatively small effective population size may have contributed to the less frequent of macrohaplogroup in this native of Sabah. Overall, the findings contribute the valuable baseline data on the maternal genetic structure of the Murut ethnic group and enhance current understanding of mtDNA diversity with indigenous populations of Southeast Asia. Future studies should include other natives of Sabah and Sarawak (e.g., Bajau, Bugis, Kedayan, Iban and Kadazan) as their macrohaplogroup M frequency distributors have yet to be determined.
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