Download A Handbook of Clinical Genetics by J. S. Fitzsimmons (Auth.) PDF

By J. S. Fitzsimmons (Auth.)

ISBN-10: 0433105305

ISBN-13: 9780433105305

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Disease produced in this way is said to be dominantly inherited. 28 CLINICAL GENETICS If, on the other hand, the abnormal gene fails to produce any phenotypic abnormalities or disease its effects are said to be recessive to those of the normal allele. In many cases it may be impossible to demonstrate any effect of this abnormal gene. However, if a person inherits such a similar defective gene from both parents then the combined effect of these two genes may be to produce specific disease. Abnormalities produced in this way are said to be recessively inherited.

The patient carrying the abnormal gene and one normal allele in the other chromosome is referred to as a heterozygote. In dominantly inherited disease either sex may be affected. Because an individual contributes only one of the two chromosomes carrying the abnormal gene to the gamete, then each offspring has a 50 per cent or 1 in 2 chance of inheriting the abnormal gene and hence manifesting the disease. It is important to remember that this risk remains the same for each successive pregnancy, irrespective of the outcome of the preceding one.

In view of what we have learned of X-linked recessive disease any daughter born to a carrier has a 50/50 risk of being a carrier like her mother. One daughter has already had three sons none of whom are affected and this clearly would suggest that she might not be a carrier. The other daughter has only one unaffected male and this does not allow us to draw any conclusions about her carrier status. In X-linked disease it is obviously important to have some method of detecting the carrier status of any female in the family.

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