Human Congenital Diseases with Mixed Modes of Inheritance Have a Shortage of Recessive Disease. A Demographic Scenario?
Article first published online: 22 SEP 2011
© 2011 The Authors Annals of Human Genetics © 2011 Blackwell Publishing Ltd/University College London
Annals of Human Genetics
Volume 75, Issue 6, pages 688–693, November 2011
How to Cite
Mitchison, N. A., Bhattacharya, S. and Tuddenham, E. G. D. (2011), Human Congenital Diseases with Mixed Modes of Inheritance Have a Shortage of Recessive Disease. A Demographic Scenario?. Annals of Human Genetics, 75: 688–693. doi: 10.1111/j.1469-1809.2011.00679.x
- Issue published online: 4 OCT 2011
- Article first published online: 22 SEP 2011
- Received: 17 May 2011, Accepted: 5 August 2011
An archive of congenital human diseases is presented, aiming to contain all those where recessive (biallelic) can be compared with X-linked and/or dominant (monoallelic) inheritance. A significant deficit of recessive inheritance is evident, both in disease inheritance and in contribution to inheritance per known disease gene. The deficit contrasts with expectation derived from the cell biology of mutation, and from the importance of recessive mutation in evolution and its preponderance in N-ethyl-N-nitrosourea (ENU) mutagenesis. The deficit fits well with the standard model of demographic change since the neolithic era, and may also reflect natural selection acting on heterozygotes.