Genetic Disease Is An Autosomal Dominant Neurodegenerative Disorder

737 Words Apr 6th, 2015 3 Pages
Genetic diseases are diseases that are passed on from parents to their offspring. An example of a genetic disease which can be inherited is Huntington Disease. "Huntington Disease is an autosomal dominant neurodegenerative disorder with midlife onset characterised by psychiatric, cognitive and motor symptoms"(G. Vonsattel and DiFiglia, 1998). The statistics for HD blah blah blah Like all genetic diseases, huntington 's disease has a specific inheritance pattern.

Huntington disease is an autosomal disease this means that the defective gene does not occur on one of the sex chromosomes but instead it occurs on one of the other 22 chromosomes (known as autosomes). It is a also a dominant disorder so therefore only one copy of the altered gene, passed on from a parent who has it, is necessary to cause their offspring to inherit the disease. If one of the parents has the defective gene their offspring will have a 50/50 chance of inheriting that gene. (See Figure 1).

If the offspring inherits the gene it is guaranteed that they will develop Huntington 's disease at some point in their life time, the disease does not skip generations. The defective gene is not present on either of the sex chromosomes resulting in the disease being independent of gender. This means that male and female offspring will have an equal risk of inheriting the disease. The faulty gene (the HD gene) that is to blame for the development of huntington 's disease is located on chromosome 4 (See Figure 2), it…
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