L. S. Penrose
Articles written in Journal of Genetics
Volume 25 Issue 3 April 1932 pp 407-422
The effect of environment in the study of human genetics has been discussed, especially in relation to the observation of numerical ratios of affected persons to normal where the inheritance, not of a disease, but of the susceptibility to a disease is under consideration.
Methods of allowing for the effects of environments of graded intensity have been investigated.
The problem of selective mortality of affected individuals has been discussed, and a solution proposed.
The importance of the possibility of parents themselves being susceptible persons has been considered.
The methods which are described for attacking these problems are applied to data on the familial incidence of mongolian imbecility, which is assumed to have some hereditary basis. It is concluded that, if due allowance be made for environment, the proportion of susceptible individuals must be very much higher than is usually supposed in affected families.
It is concluded that the susceptibility to mongolism may possibly be determined by the inheritance of two dominant genes.
Volume 27 Issue 2 May 1933 pp 219-224
Volume 31 Issue 3 October 1935 pp 413-430
Twenty family histories of institutional cases suffering from mental defect associated with sebaceous adenoma have been investigated. The conclusion has been drawn that a single rare dominant gene is the main causative factor. An appreciable number of cases—the majority of whom are idiots—are thought to have arisen by mutation. It is estimated that the mutation rate of this gene in man may be as high as 1/60,000 per individual per generation and is not likely to be lower than 1/120,000. The great variety found in the clinical manifestations is attributed to the influence of extraneous modifying factors which are mainly independent genes.
Volume 88 Issue 1 April 2009 pp 9-14 J. Genet. Classic
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