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Journal : TROPICAL GENETICS

Identification of single nucleotide polymorphisms on the D-loop region of mtDNA in Sundanese population Wolly Candramila; Sony Heru Sumarsono; Bambang Suryobroto; Maelita Ramdani Moeis
Tropical Genetics Vol. 1 No. 1 (2021)
Publisher : Genetikawan Muda Indonesia

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Abstract

Identification of sequence polymorphism on the D-loop region of mtDNA has been done for various purposes, including health and medical treatment. In this research, single nucleotide polymorphisms were identified in the D-loop region of mtDNA of the Sundanese population in western Java. A total of 118 unrelated and healthy Sundanese probands were collected from closed-traditional kampung adat and open communities distributed in 14 cities and regencies in western Java. DNA amplification and direct sequencing of the D-loop region were proceeded using primers L15990 and H409. Multi-alignment was conducted not only intrapopulation but also with D-loop sequence data stored in GenBank for comparison. In this research, we categorized high-frequency SNPs as less effective for identification in population studies because of their presence in other populations outside Indonesia. Meanwhile, lower-frequency SNPs showed typical variants of Sundanese haplotypes. On the other hand, rare or low-frequency SNPs should be re-examined in larger size of samples to have a better understanding of risk factors for many diseases.
Maternal genetic variation of Betawi population Wolly Candramila; Bambang Suryobroto
Tropical Genetics Vol. 1 No. 2 (2021)
Publisher : Genetikawan Muda Indonesia

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Abstract

Betawi identity was assessed based on the diversity of maternal lines using genetic markers in the D-loop region of mitochondrial DNA. The results of the cleavage by the restriction enzymes DdeI, HaeII, HaeIII, and HinfI showed five patterns of genetic variants which were later named Haplotype I, II, III, IV, and V. Haplotype I had the highest frequency of 75.6%, followed by Haplotype III 11.5%, and Haplotype II 10.3%. Haplotypes IV and V were only found in 1 individual each and were assumed to be individual mutations. The highest haplotype in the Betawi population showed the same restriction enzyme cleavage pattern with all comparison samples from the Sunda and Malay populations. Meanwhile, Haplotype II and III were strongly suspected as the result of the divergence of Haplotype I and can also be found in other ethnic groups in Indonesia. This finding confirms Jakarta as a location for ethnic mixing which then produces a new local culture as Betawi Culture.