G. Pepe et al., ALLELE AND HAPLOTYPE FREQUENCY-DISTRIBUTION OF THE ECORI, RSAI, AND MSPI COL1A2 RFLPS AMONG VARIOUS HUMAN-POPULATIONS, Human biology, 67(6), 1995, pp. 905-920
The EcoRI, RsaI, and MspI RFLPs (restriction fragment length polymorph
isms) of the COL1A2 gene, one of the two genes that encode for the pol
ypeptides of type I collagen, have been studied in four West African a
nd two Asian populations to evaluate their potential effectiveness as
anthropological markers. All three RFLPs were in Hardy-Weinberg equili
brium. The comparisons between present data on two of the major human
groups and those on Europeans and Amerindians show a considerable hete
rogeneity for each of the three RFLPs under study. EcoRI, in particula
r, appears to be highly effective in distinguishing Africans, European
s, and Asians from each other. As expected, the analysis at the haplot
ype level considerably improves the discriminating efficiency of these
three markers by creating a clear-cut distinction between Tharus and
Indonesians, the two Asian populations of the present survey. In fact,
even though these two populations exhibit the same frequencies for th
e RsaI and MspI alleles, the frequency of the MspI(-) allele among the
RsaI(-) chromosomes is 0.5 +/- 0.14 in the Indonesian sample and 0 0.04 in the Tharu sample.