A hereditary disease with excess mortality such as haemophilia is maintained in the population by the occurrence of new cases, i.e. mutations. In haemophilia, mutations may arise in female or male ancestors of a 'new' patient. The ratio of the mutation frequencies in males over females determines th
A maximum likelihood estimate of the sex ratio of mutation rates in Haemophilia A
β Scribed by R. M. Winter; E. G. D. Tuddenham; E. Goldman; K. B. Matthews
- Publisher
- Springer
- Year
- 1983
- Tongue
- English
- Weight
- 314 KB
- Volume
- 64
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
β¦ Synopsis
Carrier detection tests were carried out on 21 mothers of isolated cases of severe Haemophilia A, according to WHO recommendations. A maximum likelihood estimate of the male to female mutation ratio of 9.6 (95% confidence limits 2.2-41.5) was obtained.
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Mutation rates for X-linked recessive diseases have so far been estimated indirectly by postulating an equilibrium between the loss of defective genes caused by the low reproductive fitness of affected males and the gain resulting from new mutations. Here, for the first time, we directly estimate bo