Download e-book for iPad: Applied genetics in healthcare: a handbook for specialist by Heather Skirton

By Heather Skirton

ISBN-10: 0203307976

ISBN-13: 9780203307977

ISBN-10: 1859962742

ISBN-13: 9781859962749

Advent to genetic healthcare -- Foundations in genetic technology -- operating virtually in genetic healthcare -- operating professionally in genetic healthcare -- operating to aid households -- operating as an educator for households and pros -- operating as a researcher -- Autosomal-dominant inheritance -- Autosomal recessive inheritance -- X-linked inheritance -- Familial melanoma -- Chromosomal and non-traditional styles of inheritance -- Multifactorial inheritance and customary ailments

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B) In your country, is it legally permissible to take a sample for DNA testing from an adult who cannot give informed consent? (c) Discuss in a group how you might ensure that you work ethically in this family, upholding the rights of both Leroy and Zaina. L. (1999) The Practical Guide to the Genetic Family History. Wiley-Liss, New York. Centers for Disease Control and Prevention (CDC) (2004) Spina bifida and anencephaly before and after folic acid mandate—United States, 1995–1996 and 1999–2000.

5 Mutations in the gene Types of mutation A mutation is an alteration in the normal sequence of DNA within the gene that may be inherited or occur sporadically. Mutations can be due to the effects of chemical or other physical damage (such as radiation) to the cell, but can also occur because of an error in DNA replication during mitosis or meiosis. However, once a mutation exists, it is replicated in all daughter cells that arise from the mutated cell. Mutations may be harmless (in the sense that they do not cause disease), either because they occur in introns or because they do not alter the amino-acid sequence.

The secretions of the lungs are very thick and this makes the person who has cystic fibrosis more prone to chest infections. People who have cystic fibrosis also have problems digesting some foods and need to take additional enzymes with their food to aid digestion. About 1 in 20 people in our population are carriers of cystic fibrosis. This means that they have one faulty copy of the gene and one normal copy. Having one faulty copy of the gene usually has no effect on the health of the carrier as one working copy of the gene is enough to ensure normal function.

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Applied genetics in healthcare: a handbook for specialist practitioners by Heather Skirton


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