Two new polymorphic markers in the human proα2(1) collagen gene

Brebner D.K. ; Grobler-Rabie A.F. ; Bester A.J. (1985)


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 proα2(1) collagen genes of several South African populations (Grobler-Rabie et al., in press). This report describes the detection of a Bgl II and an EcoRI polymorphism in the proα2 gene of South African Blacks.

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