Composición genética de la población chilena. Distribución de polimorfismos de DNA mitocondrial en grupos originarios y en la población mixta de Santiago

Background: The analysis of mitochondrial DNA restriction site polymorphisms assigns most Latin American aborigines to four haplogroups. These are characterized by determined polymorphic restriction sites and a deletion of 9 base pairs in the intergenic region V. Aim: To study the distribution of mitochondrial DNA haplogroups in Chilean aboriginal groups, as well as in the mixed population of Santiago. Material and methods: One hundred twenty Aymara subjects and 23 Atacameno 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 (Rev Med Chile 2002; 130: 125-31)