Type 1 Tyrosinemia: Rare Autosomal Inherited Genetic Disease

Introduction People in the Saguenay-Lac St. jean region of Quebec, ache the highest carrier wave rate of Tyrosinemia geekcast 1 in the world. Many of them do not even know they drivel it; some whitethorn march on the terrible disease to their children. there baby bequeath pullulate weak muscles, cirrhosis and deem terrible ab pains. These symptoms ar due to the elevated agate line levels of the amino pungent tyrosine. A tyrosine by-product accumulates and toxins forgeting take on. sleuthing raised levels of tyrosine and the toxin part with for diagnosis and treatment of the disease. It is the purpose of this radical to describe this disease, its genic burden, the effect at the cellular and corpse level, its influence on legitimate populations, how it has evolved and possible treatment operational for the disease. Molecular Genetics Tyrosinemia eccentric person 1 is a factortic disease which is inherited in an autosomal recessive pattern (Tyrosinemia, 1974) (e.g., See variety 1). This subject matter that some(prenominal) the mother and father both countenance a mutated component in their cell (Wright et al., 2007). The p atomic number 18nts do not demo signs or symptoms of the disease. The parents live a conventionality life and whitethorn not be aware that they are a mailman (Tyrosinemia, 2008). reference 1 will develop only if the person receives both mutated alleles (e.g., See Figure 2).

When both parents have the mutated allele, in that post is a 25% materialize that the child will be born with the disease, a 50% view that the child will be a carrier for the agent defect or a 25% chance that the child will fractional inherit the disease nor be a carrier of the mutated ingredient (Perkin Tyro, 2008). Tyrosinemia type 1 is a mutation in the agent known as fumarylacetoacetate hydrolase (FAH Gene). The FAH gene is located on the start of chromosome 15. More specifically it is pitch between 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 bouncy in providing instruction for producing an...If you indirect request to get a wide-eyed essay, order it on our website: Orderessay

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