Not many people are aware about the genetic disorder of Wilson's disease which affects around 50,000 to 100,000 worldwide. The cause of this disorder is the abnormal changes known as mutation in the genes which may be inherited as autosomal recessive trait and the diseased gene known as ATP7B gene is responsible for Wilson's disease.
These kinds of recessively transmitted disorders manifest themselves in those people (homozygotes) who inherit two copies of the genes from the father as well as the mother. The siblings of those diagnosed may have 25% chances of having the disorder. Those individuals who inherit a single copy of the disease gene (heterozygotes) may transmit a single copy to their children, but that happens only 1 in 90-100 people. Though genetic testing is not yet possible for Wilson disease, there is a type of analysis called haplotype which helps in determining carrier status in families who are known to have mutations of the gene.
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