[Genetic composition of the Chilean population. Analysis of mitochondrial DNA polymorphism].
BACKGROUND
The analysis of mitochondrial DNA restriction site polymorphisms assigns most Latin American aborgines to four haplogroups. These are characterized by determined polymorphic restriction sites and a deletion of 9 base pairs in the intergenic region V.


OBJECTIVE
To study the distribution of mitochondrial DNA haplogroups in Chilean aboriginal groups, as well as in the mixed population of Santiago.


METHODS
One hundred twenty Aymara subjects and 23 Atacameño subjects from the Northern part of Chile and 162 randomly chosen subjects residing in Santiago were studied. DNA was extracted from peripheral lymphocytes. Mitochondrial DNA was amplified by means of polymerase chain reaction.


RESULTS
The frequency of haplogroup B decreases from north to south. Aymaras in the north have the highest frequency (64%) and it is absent among the Yamanas (previously studied) in the extreme South. Haplogroups C and D show an inverse tendency. It is noteworthy that 84% of mitochondrial haplogroups of the mixed population of Santiago are of Amerindian origin whereas the Y-chromosomes are mainly European.


CONCLUSIONS
The peculiar distribution of haplotypes indicate that the population of Santiago is the result of an asymmetric mating system in which the females ancestors were mainly Amerindian and the male ancestors mainly European.
Rocco
Paola
P
Departamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Programa de Genética Humana, ICBM, Facultad de Medicina, Universidad de Chile.
Morales
Carmen
C
Moraga
Mauricio
M
Miquel
Juan Francisco
JF
Nervi
Flavio
F
Llop
Elena
E
Carvallo
Pilar
P
Rothhammer
Francisco
F
D002677:Chile / Q000208:ethnology; D004272:DNA, Mitochondrial / Q000235:genetics*; D005060:Europe / Q000208:ethnology; D005260:Female; D014644:Genetic Variation / Q000235:genetics; D005828:Genetics, Population; D006801:Humans; D007199:Indians, South American / Q000235:genetics; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
D004272:DNA, Mitochondrial