S. Roychoudhury et al., Fundamental genomic unity of ethnic India is revealed by analysis of mitochondrial DNA, CURRENT SCI, 79(9), 2000, pp. 1182-1192
Mitochondrial DNA (mtDNA) profiles of 23 ethnic populations of India drawn
from diverse cultural, linguistic and geographical backgrounds are presente
d. There is extensive sharing of a small number of mtDNA haplotypes, recons
tructed on the basis of restriction fragment length polymorphisms, among th
e populations. This indicates that Indian populations were founded by a sma
ll number of females, possibly arriving on one of the early waves of out-of
-Africa migration of modern humans; ethnic differentiation occurred subsequ
ently through demographic expansions and geographic dispersal, The Asian-sp
ecific haplogroup M is in high frequency in most populations, especially tr
ibal populations and Dravidian populations of southern India, Populations i
n which the frequencies of haplogroup M are relatively lo M ef show higher
frequencies of haplogroup U; such populations are primarily caste populatio
ns of northern India. This finding is indicative of a higher Caucasoid admi
xture in northern Indian populations. By examining the sharing of haplotype
s between Indian and south-east Asian populations, we have provided evidenc
e that south-east Asia was peopled by two waves of migration, one originati
ng in India and the other originating in southern China. These findings hav
e been examined and interpreted in the light of inferences derived from pre
vious genomic and historical studies.