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

By J. S. Fitzsimmons (Auth.)

ISBN-10: 0433105305

ISBN-13: 9780433105305

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2 1 s and trisomy ensues. A similar mechanism underlies other trisomic abnormalities. There is no clear explanation for the occurrence of non-disjunction. It is seen in the male also but seems to happen more frequently in the female, particularly in the animal kingdom. One explanation may be that as the female ages her ovaries are increasingly subject to environmental teratogens. She has all her ova from birth whereas the male continues to make new generations of sperms throughout his reproductive life, which can be very prolonged.

In thalassaemia there is a block in the production of adult haemoglobin. This has been shown recently to result from loss of whole or part of the genes responsible for globin production. The mechanism is not yet clear but it is possible to demonstrate the trait in the carrier. The disease occurs mainly in people from the Mediterranean basin but in Great Britain is seen primarily in immigrants from India and Pakistan. There are several varieties of thalassaemia and patients who are homozygous for the abnormal gene suffer from anaemia and require frequent blood transfusions to survive.

Both parents, clinically normal, carry the abnormal gene and are heterozygotes. At reduction division the gene passes to half the sperm and half the ova. At fertilisation an individual with both genes will manifest the disease. This occurs in one of the four possible outcomes to fertilisation. Risk of child being heterozygous 2 :3. Rr RR Normal Rr rR Heterozygote rr Affected Rr Heterozygote Fig. 7 Another method of demonstrating recessive inheritance, r is recessive to normal allele R. With a 'double dose' of r individual manifests disease.

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


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