Genetics Case Study

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Case Study
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MULTIDISCIPLINARY APPROACH ON GENETIC DISEASES: TAY-SACHS DISEASE I. Nature of Tay-Sachs Disease Tay-Sach Disease is a condition in which the neurons progressively degenerate. Fatty substances abnormally accumulate in neurons. Motor and sensory functions are thus affected by this disease.


-hexosaminidase A, the enzyme that breaks down GM2 ganglioside, which is normally degraded during the early brain development. Accumulation of this fatty substance causes the distention and eventual destruction of neurons (, 2007). Pattern of Inheritance The pattern of inheritance of Tay-Sachs disease is autosomal recessive, in which case the individual should have both recessive alleles to manifest the symptoms of the disease. Moreover, because it is autosomal, the disease does not differentiate between sexes. An individual with Tay-Sachs disease is conceived if both parents are carriers (heterozygous) of the gene. It must be noted that homozygous recessive parents are not possible because individuals with Tay-Sachs disease, as elaborately discussed in the next section, are unable to do motor functions as basic as walking and swallowing. Carrier parents thus have a 25% chance of having a child with Tay-Sachs disease per conception. In addition, they have 50% chance of conceiving carriers, and 25% chance of having a child that do not have a recessive allele. Detection of symptomatic and supposedly homozygous recessive individuals may be determined in prenatal tests or by assaying ?-hexosaminidase A activity. ...
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