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Presentation on some basic ideas in genetics and how these can effect our role in health care.Ultimately, all aspects of anatomy and physiology depend on, and derive from our genes. It is the genes which carry all of the information needed to construct the body, in the genetic code. Genetic disorders are those caused wholly by
abnormalities in the genes. Numerous individual genetic disorders exist. They are normally classified by their mode of inheritance, this may be autosomal dominant, autosomal recessive or sex linked.
Autosomal dominant disorders
Autosomes are the 44 non-sex chromosomes present in cell nuclei. Autosomal dominant disorders will be manifest if there is a single copy of the abnormal gene present in the individual’s genotype. This means that when one parent is affected by a dominant disorder, any children have a 50% chance of inheriting
the condition. For example, achondroplasia which is a form of dwarfism, is transmitted by a dominant gene. Huntington’s disease is also dominant and leads to psychiatric symptoms, abnormal movements and eventual dementia. Hypertrophic obstructive cardiomyopathy (HOCM) leads to an abnormal increase in the thickness of the myocardium and is a cause of sudden death.
Neurofibromatosis causes numerous small tumours to develop from the sheaths of peripheral and cranial nerves. The BRCA1 and BRCA2 genes significantly predispose to the development of breast and ovarian cancer and are also transmitted in an autosomal dominant pattern.