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TAYSACHS

h the disease, and being a carrier does not affect the mother or father physically, mentally, or in any other way. High-risk couples, in which the man and the woman are carriers of the same genetic condition, have a 25% chance with each pregnancy of conceiving a child with that condition. There is a 50% chance of producing a child who is a carrier like the parents and a 25% chance that the child will be neither a carrier nor affected with the disease. If only one parent is a carrier, there is no chance of producing a baby with a recessive disease. There is, however, a 50% chance in each pregnancy that the child will be a carrier. Tay-Sachs is an X-linked condition. An X-linked condition occurs when a person has a mutation in one of the genes on the X chromosome. X-linked conditions usually affect males more often and more severely than females, because females with a mutation in a gene on the X-chromosome usually have a non-mutated gene on their other X-chromosome, which can counteract for the mutation. Females with a mutation in a gene on one X chromosome and a normal copy of the gene on the other X chromosome carriers. When a baby is infected with Tay-Sachs disease it appears normal and healthy,but usually symptoms begin to appear at 4-6 months since its birth.Early signs of the disease are when a baby gradually stops smiling, crawling, turning over, loses its ability to grasp things and to reach out, and eventually becomes blind, paralyzed, and unaware of its surroundings. Usually within 3-5 years of the infant's life, death occurs. The cause of death, and the effect Tay-Sachs has on the body is the lack of an enzyme known as hexosaminidase A, also known as hex A. This lysosome enzyme is needed to break down certain fatty substances, lipids, in the brain and nerve cells. Without this enzyme these substances build up and gradually harm and destroy brain and nerve cells, until the whole central nervous system breaks d...

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