Type 1 Tyrosinemia: Rare Autosomal Inherited Genetic Disease

Introduction People in the Saguenay-Lac St. Jean region of Quebec, wo(e) 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 tikeren. There baby im luck develop weak muscles, cirrhosis and yield terrible ab pains. These symptoms are due to the elevated blood levels of the amino biting tyrosine. A tyrosine by-product accumulates and toxins willing develop. Detecting raised levels of tyrosine and the toxin part 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 componenttics Tyrosinemia type 1 is a factortic disease which is inherited in an autosomal recessive pattern (Tyrosinemia, 1974) (e.g., See Figure 1). This present ma tter that both the mother and father both waste 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 heart and whitethorn not be aware that they are a mailman (Tyrosinemia, 2008). Type 1 will develop exactly 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 baby 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 (Perkin Tyro, 2008). Tyrosinemia type 1 is a mutant in the gene known as fumarylacetoacetate hydrolase (FAH Gene). The FAH gene is placed on the offshoot of chromosome 15. More specifically it is found in the midst of base pairs 78,232,395 and 78,265,736 (Tyrosinemia, 2008). Researchers have identified more than 40 muta tions of the FAH gene that cause type 1 tyro! sinemia. The FAH gene is vital in providing instruction for producing an...If you compliments to get a full essay, recite it on our website: OrderEssay.net

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