This genetic disorder is caused by a genetic recessive trait in Jewish families. This condition is a neurodegenerative disorder where there is a build up of lipids in the brain. The build up causes progressive physical and mental issues resulting in early death. Symptoms begin around age 6 months and death occurs by ages 3 or 4 Klinfelter's Syndrome Tay-Sachs Disease Down Syndrome Progeria
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Tay-Sachs disease is an inherited genetic disorder in which the gene sequence codes for an enzyme involved in lipid metabolism. Accumulation of lipids in the brain leads to seizures, blindness, loss of neural function, and early death. People can be carriers of this disease, and only homozygotic offspring will die from this disorder. When the enzyme structure of a heterozygote carrier is examined, there is an equal number of functioning and non-functioning enzymes produced. This is an example of
Jennifer H.
Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood. None of that is important to this question, but it is interesting. For our purposes, assume that Tay-Sachs disease is the result of a recessive allele. This allele is vanishingly rare in most ethnic groups, but Ashkenazi Jews (a population mainly in or from central Europe) have a rate of 1 case of the disease in every 3600 births. Using the Hardy-Weinberg equations, calculate the allele frequencies for the: #1) Dominant (non-Tay-Sachs) allele #2) Recessive (Tay-Sachs) allele #3) The frequency of Tay-Sachs carriers
Anand J.
Tay-Sachs disease is an autosomal recessive disorder. Homozygous recessive individuals lack a key enzyme called hexosaminidase A, which presents as progressive mental and motor deterioration until death occurs around age 5. Heterozygous individuals, called Tay-Sachs carriers, develop no symptoms of the disease. Tay-Sachs disease was historically more prevalent within populations of Ashkenazi Jews, Pennsylvania Dutch, southern Louisiana Cajuns, and eastern Quebec French Canadians. Today, individuals descended from these populations are more likely to be Tay-Sachs carriers, but genetic testing within these populations has largely eliminated the occurrence of Tay-Sachs disease. For a randomly mating population, calculate the Tay-Sachs carrier frequency to three decimal points if 1 in 3600 individuals develops Tay-Sachs disease.
Kaela P.
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