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on HVR1 namely 16362 and 16390. In the Indonesian archipelago, haplogroup M+16362
and M+16362 + 16390 are the major haplogroups of Wallacea populations found in Nusa
Tenggara and Sulawesi.
Studies from almost two decades ago found the presence of three derivatives of the
major mtDNA which was carried by the Oceania residents namely B4a, P, and Q in which
the frequency is very high in the Indo Pacific area. The derivative of B4a is not found in
the highland or inland areas of Papua but is detected in the coastal regions of northern
Papua, in the Melanesian islands, and in Fiji (Tommaseo-Ponzetta et al., 2002). Apparently
B4a is not found in West Papua (Betty et al., 1996) or Australia (Cox et al., 2007) either.
This suggests, therefore, that B4a is linked to the dispersal of the Austronesian-speaking
people to the Oceanic area during the mid-Holocene period. This is considering that these
motifs were never recorded in the Papuan highlands where Trans-New Guinea (TNG)
languages are spoken, but are found with extremely high frequency in Polynesia and
mirror the distribution of the Austronesian language family.
A comprehensive illustration by Cox outlines the migration of mtDNA in Asia (Cox et
al., 2007).
Population Structure in Indonesia
In research conducted over the last 15 years, we found that disease mutation is very closely-
linked to population structure. For instance, the red blood cell disease called thalassemia
occurs in populations living in areas where malaria is endemic, as a genetic mutation that
offers protection against malaria.
Another example is the carrier frequency or mutation spectrum of the beta globin
gene on ß-thalassemia and HbE varies among different populations. The results of disease
epidemiology surveillance studies done together with genetic diversity studies enable the
development of directed diagnostic methods based on ethnicity hence simplifying disease
management. The disease frequency can be reduced by doing a pre-natal diagnosis
(Pramoonjago et al., 1999). As an illustration, thalassemia alpha disease is often found
in Vanuatu in the Melanesian area and also in Papua New Guinea. Research in Indonesia
suggested the genetic disorder is only found in the Papuan population in Timika (18.1%)
and is not present in other cities studied such as Gayo in Aceh and in Sumba (Nurfitriani et
al., 2014). These findings demonstrate the susceptibility of people with Papuan genetics to
thalassemia alpha.
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