Is tay sachs disease sex linked
Victorian government portal for older people, with information about government and community services and programs. Type a minimum of three characters then press UP or DOWN on the keyboard to navigate the autocompleted search results. The genes in our cells are in pairs. We inherit a set from each of our parents. TSD follows an autosomal recessive inheritance pattern.
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Tay-Sachs disease: MedlinePlus Genetics
Tay—Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. Tay—Sachs disease is caused by a genetic mutation in the HEXA gene on chromosome 15 , which codes for a subunit of the hexosaminidase enzyme known as hexosaminidase A. The treatment of Tay—Sachs disease is supportive in nature. The disease is named after British ophthalmologist Waren Tay , who in first described a symptomatic red spot on the retina of the eye; and American neurologist Bernard Sachs , who described in the cellular changes and noted an increased rate of disease in Ashkenazi Jews. Tay—Sachs disease is typically first noticed in infants around 6 months old displaying an abnormally strong response to sudden noises or other stimuli, known as the "startle response".
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Most of the known genetic disorders are dominant gene-linked; however, the vast majority of dominant gene linked disorders are not serious or debilitating. Recessive gene disorders, such as cystic fibrosis and sickle-cell anemia, are less common but may actually claim more lives because they are less likely to be detected as people are unaware that they are carriers of the disease. Some genetic disorders are sex-linked ; the defective gene is found on the X-chromosome.
What causes Tay-Sachs disease? On which chromosome is the HEXA gene? How is Tay-Sachs disease inherited?
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