Autosomal Recessive

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brief description of autosomal recessive gene disorder.
  Autosomal Recessive Genetic Disorder The human body is made of millions of cells. Each cell contains a set of genes. These genes are inherited from the father and mother of the child. These genes can be seen as a set of instructions, guiding the growth and development of the human body. Any alterations are called mutations. Any mutation can stop a gene from working properly, which may cause a genetic disorder. A human body has 46 chromosomes within each of their cells. 23 of these are inherited from the father, the other half from the mother, which equals to 23 pairs in total. One of the pairs is called sex chromosomes and the other 22 are reffered to as autosomal. Changes in the autosomal genes can cause autosomal genetic disorders, such as PMDS. A recessive genetic disorder is caused by mutations in a pair of genes. Both genes must have some type of alteration for the person to have this disorder. An affected person inherits a copy of the mutated gene from each parent. In most cases, the parents of the affected individual are healthy carriers of a single changed copy of the gene. A carrier of an autosomal recessive genetic disorder is a person who has one normal copy of a gene and who has mutation in the other copy of that gene. The presence of the normal gene usually ensures that the person will not be affected. It is thought that we are all carriers of a few changed genes. Generally, the chance that someone who carries a gene with a change (mutation) will choose a partner who happens to carry the same changed (mutated) gene is small (if the  partner is not a close relative and does not have a family history of the same genetic problem). If  both partners in a couple are carriers of the same changed gene, they are at risk of having a child  with a genetic disorder. The chance that such a couple will have an affected child is one in four, or 25 percent, for each pregnancy. Parents can sometimes misunderstand the 1 in 4 risk. Parents who have one child affected by a recessive disorder may think that a 1 in 4 risk means that the next 3 children cannot  be affected. This is not true. The 25 percent risk is the same for every pregnancy. There is also a 2 in 4 chance that a child will inherit a single copy of the mutated gene. Children who inherit just one copy of the gene with the mutation will be healthy carriers like their parents. Persistent Mullerian duct syndrome is known to be inherited in an autosomal recessive pattern. This means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. However, persistent Müllerian duct syndrome affects only males. Females with two mutated copies of the gene do not show signs and symptoms of the condition. Autosomal Recessive Genetic Disorders. (2011, January 14). Retrieved September 5, 2014, from  
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