haplotypes were identified that account for 58 of the different mutant

Haplotypes were identified that account for 58 of the

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haplotypes were identified that account for 58% of the different mutant chromosomes in Wilson’s disease, and four underlying defects in ATP7B representing 37% of WD
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chromosomes were also detected.14ATP7B is a relatively large gene at around 80 kb, and it contains 21 exons. Knowledge of the prevalent mutations is therefore of help in achieving rapid mutational screening. 6 Wilson’s disease genes are affected by spontaneous mutations done to them. Thirty different mutations were so far found among tested patients. The disease is known to be passed on from generation to generation in several cases, yet most patients do not show family history of the disease. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. 4 The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Wilson’s disease is a serious and fatal, if not properly treated, disease. Treatment can get rid of the disease but must be lifelong to prevent reaccumalation of copper. The disease is not easily inherited due to the fact that the child must receive an affected gene from each parent. New methods that provide faster and cheaper means of genotyping patients will speed up the process of confirmation of diagnosis in targeted population groups, and DNA microarray analysis may help in the direct detection of the mutations. In terms of therapy, long-term clinical trials of recently advocated agents such as tetrathiomolybdate are needed to judge these treatments' efficacy, and a more comprehensive solution could involve gene therapy. Wilson’s disease is currently being researched and new drugs are being made to prevent and treat affected patients. Works Cited
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