Type 1 Tyrosinemia: Rare Autosomal Inherited Genetic Disease

Introduction People in the Saguenay-Lac St. Jean region of Quebec, support the highest mailman rate of Tyrosinemia geekcast 1 in the world. Many of them do non even know they carry it; some may pass the terrible disease to their youngsterren. There baby bequeath develop weak muscles, cirrhosis and arouse terrible ab pains. These symptoms are due to the elevated blood levels of the amino acidulous tyrosine. A tyrosine by-product accumulates and toxins willing develop. Detecting raised levels of tyrosine and the toxin component with for diagnosis and treatment of the disease. It is the purpose of this paper to describe this disease, its familial effect, the effect at the cellular and body level, its influence on certain populations, how it has evolved and possible treatment available for the disease. Molecular cistrontic science Tyrosinemia type 1 is a factortic disease which is inherited in an autosomal recessive pattern (Tyrosinemia, 1974) (e.g., See Figure 1). This root word matter that both the mother and father both lose a mutated element in their cell (Wright et al., 2007). The parents do not demo signs or symptoms of the disease. The parents live a normal life story and whitethorn not be aware that they are a mailman (Tyrosinemia, 2008). Type 1 will develop but if the person receives both mutated alleles (e.g., See Figure 2). When both parents have the mutated allele, in that location is a 25% incident that the pip-squeak will be born with the disease, a 50% chance that the child will be a carrier for the broker defect or a 25% chance that the child will incomplete inherit the disease nor be a carrier of the mutated gene (Perkin Tyro, 2008). Tyrosinemia type 1 is a pas seul in the gene known as fumarylacetoacetate hydrolase (FAH Gene). The FAH gene is set on the offshoot of chromosome 15. More specifically it is found amongst base pairs 78,232,395 and 78,265,736 (Tyrosinemia, 2008). Researchers have identified more t han 40 mutations of the FAH gene that cause ! type 1 tyrosinemia. The FAH gene is vital in providing instruction for producing an...If you compliments to get a full essay, social club it on our website: OrderEssay.net

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