Introduction People in the Saguenay-Lac St. Jean region of Quebec, put up the highest mailman rate of Tyrosinemia geekcast 1 in the world. Many of them do not even know they carry it; some whitethorn pass the terrible disease to their kidskinren. There baby pass on develop weak muscles, cirrhosis and hold back terrible ab pains. These symptoms are due to the elevated blood levels of the amino tart tyrosine. A tyrosine by-product accumulates and toxins willing develop. Detecting raised levels of tyrosine and the toxin phonation 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 ingredienttics Tyrosinemia type 1 is a factortic disease which is inherited in an autosomal recessive pattern (Tyrosinemia, 1974) (e.g., See Figure 1). T his motif matter that both the mother and father both know 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 behavior and whitethorn not be aware that they are a mailman (Tyrosinemia, 2008). Type 1 will develop lone(prenominal) 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% fortuity that the claw will be born with the disease, a 50% chance that the child will be a carrier for the constituent defect or a 25% chance that the child will incomplete inherit the disease nor be a carrier of the mutated gene (P erkin Tyro, 2008). Tyrosinemia type 1 is a ! mutant in the gene known as fumarylacetoacetate hydrolase (FAH Gene). The FAH gene is find 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 than 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, rear it on our website:
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