Type 1 Tyrosinemia: Rare Autosomal Inherited Genetic Disease

Introduction
People in the Saguenay-Lac St. Jean region of Quebec, ache 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 children. There baby bequeath develop weak muscles, cirrhosis and have terrible ab pains. These symptoms are due to the elevated blood levels of the amino pungent 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 Genetics
Tyrosinemia type 1 is a factortic disease which is inherited in an autosomal recessive pattern (Tyrosinemia, 1974) (e.g., See Figure 1). This subject matter that both the mother and father both have 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 and whitethorn not be aware that they are a mailman (Tyrosinemia, 2008). Type 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 location is a 25% chance that the child will be born with the disease, a 50% chance that the child will be a carrier for the gene 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 mutation in the gene known as fumarylacetoacetate hydrolase (FAH Gene). The FAH gene is located on the offshoot of chromosome 15. More specifically it is found 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 vital in providing instruction for producing an...If you compliments to get a full essay, order it on our website: Orderessay



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