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

By Heather Skirton

ISBN-10: 0203307976

ISBN-13: 9780203307977

ISBN-10: 1859962742

ISBN-13: 9781859962749

Creation to genetic healthcare -- Foundations in genetic technology -- operating virtually in genetic healthcare -- operating professionally in genetic healthcare -- operating to help 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 illnesses

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Extra info for Applied genetics in healthcare: a handbook for specialist practitioners

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Careful physical examination and, if possible, mutation testing are necessary to try to define the risk to offspring in families in which the phenotype may not always be clearly evident. CASE STUDY—LEROY Leroy is a 24-year-old man who is married to Kia. The couple are planning to start a family within the next few years, but Leroy is concerned about his family history of tuberous sclerosis. Leroy has a sister who has been cared for all her life in a home for children with severe mental retardation.

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. MMWR Morb. Mortal Wkly Rep. 53: 362–365. S. (2004) Practical Genetic Counselling, 6th Edn. Oxford University Press, Oxford. P. (2003) Sickle hemoglobin instability: a mechanism for malarial protection. Redox Rep. 8: 238–240. Hockley, J. (2000) Psychosocial aspects in palliative care—communicating with the patient and family.

Affected family members have a BRCA2 mutation that has a 70% penetrance rate for breast cancer. Margaux does not want to ask her elderly mother to be tested for a BRCA2 gene mutation, nor does she necessarily want to be tested herself. She asks about her risk of developing breast cancer, based on the family history. A Bayesian calculation is used to assess her mother’s chance of having inherited the familial mutation. ) Joint probability ½×3/10=3/20 ½×1=½ Express using same denominator in each column 3/20 10/20 Odds ratio (odds that Margaux’s mother inherited the mutation) 3:10 Risk expressed as a fraction or percentage (chance that Margaux’s mother inherited the mutation) As the chance that Margaux’s mother has inherited the BRCA2 mutation that was identified in other family members is 3/13Margaux’s own risk is 3/25 or 11%.

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


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