haplogroup c1b4

The present landscape

of extant Native American mtDNA phyletic diversity is composed

of the same major five basal haplogroups A-D plus X, but we are

now able to distinguish one to four founder sequences in each

haplogroup, adding up to ten monophyletic sub-haplogroups; A2,

B2, C1b, C1c, C1d, C4c, D1, D2a, D3 and D4h3a [15–21]

In spite of the importance of the P-TdF region, few studies of

mitochondrial DNA have been performed with current or

historical indigenous populations of the area like the Mapuche,

Pehuenche, Huilliche, Ya´mana and Kawe´sqar [9–10,22–27].

These studies show a cline north to south for the B2, C1b and

D1 haplogroups, with B2 decreasing in frequency until it

completely disappears in the extreme South in populations such

as the Ya´mana and Kawe´sqar. C1d and D1 increase their

frequencies as we move southward [23–27]. Regarding the D-loop

sequences of mtDNA, these populations have shown a high

frequency of a geographically-linked D1 haplogroup lineage

characterized by the presence of the C16187T polymorphism

(D1g, according to a report by Bodner et al., 2012 [28]), which

was recognized early as specific to the region by Forster et al.

(1996) [13]. Genetic studies of populations from the rest of South

America appear to confirm this observation, since up until now

this lineage has not been found in other Native populations from

South America [29–51].