Two new polymorphic markers in the human pro alpha 2(1) collagen gene.

Structural defects in the human type 1 collagen genes are known to be the cause of several inherited disorders of connective tissue, such as osteogenesis imperfecta. The analysis and prenatal diagnosis of these disorders would be facilitated by establishing a set of polymorphic markers at these gene loci. We have previously reported the presence of an Msp 1 restriction fragment length polymorphism in the pro alpha 2 (1) collagen genes of several Southern African populations (Grobler-Rabie et al., in press). This report describes the detection of a Bgl II and an EcoRI polymorphism in the pro alpha 2 gene of South African Blacks.