On the distribution of frequencies of mutation to genes determining harmful traits in man.

Abstract An attempt has been made, based on findings in a number of population surveys, the findings of others in similar studies, and the literature to compare frequencies of X-linked traits in man and the relevant gene mutation rates. It is suggested that the evidence points to the mean level of mutation rates to visibles being at least an order or magnitude lower than those which would be derived from published mutation rate estimates and which have been used in a number of contexts, notably in estimates of the hazards of radiation to man. It is further suggested that a distribution such as the one which results from these studies underrepresents very low frequency traits and correspondingly low mutation rates.

[1]  H. Muller,et al.  Our load of mutations. , 1950, American journal of human genetics.

[2]  C. Dent,et al.  VITAMIN D-RESISTANT RICKETS. ANALYSIS OF TWENTY-FOUR PEDIGREES WITH HEREDITARY AND SPORADIC CASES. , 1964, The American journal of medicine.

[3]  A. Stevenson,et al.  Congenital malformations. A report of a study of series of consecutive births in 24 centres. , 1966, Bulletin of the World Health Organization.

[4]  V. McKusick,et al.  A sex-linked recessive form of spastic paraplegia. , 1962, American journal of human genetics.

[5]  F. Smith,et al.  Idiopathic hypoparathyroidism in neonatal period. , 1963, American journal of diseases of children.

[6]  J. Weinmann,et al.  Hereditary Disturbances of Enamel Formation and Calcification , 1945 .

[7]  R. Wells,et al.  Genetic classification of ichthyosis. , 1965, Archives of dermatology.

[8]  A. Stevenson The Load of Hereditary Defects in Human Populations , 1959 .

[9]  J. Edwards The Syndrome of Sex-linked Hydrocephalus , 1961, Archives of disease in childhood.

[10]  E. Weinstein SEX-LINKED IMPERFORATE ANUS. , 1965, Pediatrics.

[11]  W. Allan RELATION OF HEREDITARY PATTERN TO CLINICAL SEVERITY AS ILLUSTRATED BY PERONEAL ATROPHY , 1939 .

[12]  R. Wells,et al.  Sex‐linked ichthyosis , 1965 .

[13]  G. Fraser Sex‐linked recessive congenital deafness and the excess of males in profound childhood deafness , 1965, Annals of human genetics.

[14]  N. Simpson,et al.  The Inheritance of Christmas Factor , 1962, British journal of haematology.

[15]  C. Witkop Hereditary defects in enamel and dentin. , 1957, Acta genetica et statistica medica.

[16]  L. Penrose,et al.  The biology of mental defect , 1950 .

[17]  H. Baar,et al.  THE BOERJESON-FORSSMAN-LEHMANN SYNDROME. , 2008, Journal of mental deficiency research.

[18]  V. McKusick On the X Chromosome of Man , 1962, The Quarterly Review of Biology.

[19]  D. Klein,et al.  Genetic and epidemiological investigations on pigmentary degeneration of the retina and allied disorders in Switzerland. , 1965, Journal of the neurological sciences.