Studies on four restriction fragment length polymorphisms of the type I collagen genes in two Italian populations

Type I collagen, the most abundant of the collagen protein family, is encoded by two genes, COL1A1 and COL1A2. Two random population samples, one from central Italy and one from southern Italy, were studied for 1 restriction fragment length polymorphism (RFLP) of COL1A1 (RsaI) and 3 RFLPs of COL1A2 (EcoRI, RsaI and MspI). A considerable heterogeneity for COL1A1/RsaI was found not only between Italians and English but even among Italians. The potential usefulness of these RFLPs and haplotypes as anthropogenetic markers, particularly in distinguishing Caucasoids from Negroids, has been discussed.