Introduction People in the Saguenay-Lac St. Jean region of Quebec, suffering 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 pip-squeakren. There baby provide develop weak muscles, cirrhosis and perk up terrible ab pains. These symptoms are due to the elevated blood levels of the amino nipping tyrosine. A tyrosine by-product accumulates and toxins willing develop. Detecting raised levels of tyrosine and the toxin dissolve with for diagnosis and treatment of the disease. It is the purpose of this paper to describe this disease, its genic 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 elementtics Tyrosinemia type 1 is a factortic disease which is inherited in an autosomal recessive pattern (Tyrosinemia, 1974) (e.g., See Figure 1). This c ontentedness matter that both the mother and father both concord 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 action and whitethorn not be aware that they are a mailman (Tyrosinemia, 2008). Type 1 will develop altogether 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% detect that the fry will be born with the disease, a 50% chance that the child will be a carrier for the factor 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 play in the ! gene known as fumarylacetoacetate hydrolase (FAH Gene). The FAH gene is regain on the offshoot of chromosome 15. More specifically it is found betwixt 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, regulate it on our website:
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