Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta.

@article{GroblerRabie1985DetectionOA,
  title={Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta.},
  author={Anne F. Grobler-Rabie and Gillian Wallis and D K Brebner and Peter Beighton and Andr{\'e} J. Bester and Christopher G Mathew},
  journal={The EMBO journal},
  year={1985},
  volume={4 7},
  pages={1745-8}
}
Screening of the pro alpha 2(I) collagen genes of Southern African populations for restriction fragment length polymorphisms (RFLPs) has revealed a locus polymorphic for the restriction enzyme RsaI. The frequency of the RFLP was 0.38 in Afrikaners, but much lower in indigenous Southern African populations, which suggests that it is of European origin. The polymorphism was used to study 19 affected and non-affected individuals in a four generation family with the autosomal dominant disorder… CONTINUE READING
12 Citations
0 References
Similar Papers

Citations

Publications citing this paper.
Showing 1-10 of 12 extracted citations

Similar Papers

Loading similar papers…