Tay–Sachs : Tay–sachs disease is caused by hexosaminidase a deficiency, which is a result of mutations in the hexa gene located on chromosome 15. Below I have posted a link to an article on the topic in wikipedia.
Answered 10/3/2016
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Human : Human genetic diseases arise because of mutations in the genetic information carried in the reproductive cells (eggs and sperm or the cells that make them). Genetic information is stored in the complex molecule called dna, which has properties that allow it to be copied, kind of like the way a computer disk can be copied. Dna contains information packed into functional units called genes, which behave like individual computer programs, and often create proteins that contribute to the machinery of the cells that make up our bodies. Just like the way the information on a computer disk can become corrupted when it is stored over time (imagine a cd or dvd exposed to sun, scratches, or dust) or when it is being copied, the information stored in dna can be corrupted either when stored or when copied. This is called a mutation. Some mutations can produce machinery that doesn't work at all, and some mutations produce machinery with properties that are different than those of the original gene. Tay sachs disease (also called hexosaminidase a deficiency) is caused by a mutation in the hexa gene that makes the machine (or enzyme) called hexosaminidase a. When it is not mutated, this enzyme helps to break down complicated sugar-like molecules in human cells. The mutation that causes tay sachs disease makes a non-working enzyme. The sugar-like molecules build up in cells, and lead to serious problems. (children with tay sachs disease may die by the age of 4.) every human cell has two copies of just about every gene. One copy is from the father, and one copy is from the mother. If you get a mutated hexa gene from one parent, and a normal hexa gene from the other parent, the normal gene will make working hexosasminidase a, and you will be able to break down those sugars... So you won't die... So you may live to pass your genes on to your children. When parent passes on genes to a child, only one of the two copies is passed. (if this didn't happen, then each generation would have twice as many genes as their parents.) so, a parent with one good copy and one bad copy of a gene, has about a 50:50 chance of passing the bad gene on to a child. To get tay sachs disease, a child has to get two bad copies of the hexa gene. One from each parent.
Answered 9/27/2017
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