The mutational demography of protein C deficiency

Krawczak, M., Reitsma, P. H. and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 1995. The mutational demography of protein C deficiency. Human Genetics -Berlin- 96 (2) , pp. 142-146. 10.1007/bf00207369

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Abstract

The geographical distribution and prevalence of 256 single base-pair substitutions (105 of them being different) within the coding region of the human protein C (PROC) gene were correlated with their initial likelihoods of generation. A significant positive correlation was observed between these "mutational likelihoods" and the geographical dispersal of the PROC gene lesions within and between 16 different countries. This relationship could be attributed to the fact that, with few exceptions, high dispersal was only exhibited by CG-->TG and CG-->CA transitions, i.e. those substitutions that are known to arise de novo at the highest frequency. The statistical distribution of mutational likelihoods was as predicted on the basis of the PROC cDNA sequence alone, allowing however for the redundancy of the genetic code. These findings suggest (1) that genetic drift and lesion-specific selection have been of relatively minor importance in determining the mutational spectrum observed in the PROC gene and (2) that most multiple reports of particular substitutions in different geographical locations appear to reflect recurrent mutation rather than identity-by-descent.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General) R Medicine > RZ Other systems of medicine
Publisher:	Springer Verlag
ISSN:	0340-6717
Last Modified:	27 Oct 2022 08:15
URI:	https://orca.cardiff.ac.uk/id/eprint/61678

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