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Cystic Fibrosis A Genetic Disorder

1252 words - 5 pages

Cystic Fibrosis (CF) is the leading fatal genetic disease in the United States, affecting approximately 1 child for 2500 children born (Levine and Miller, 220). This hereditary disorder is most commonly found in Americans who are of European decent. CF affects many parts of human body, such as the reproductive system, digestive system and endocrine system but has its most notable effects on the respiratory system. Essentially the defective gene produces a very thick mucus that clogs the lungs. This in turn, as one can only imagine, leads to many problems with respiration. The following paper will discuss what exactly the defect is, how the gene is inherited, the effects of the disorder on a molecular level, and finally the medical advances and possible treatments for the disorder. Although cystic fibrosis is known to affect many organs of the human, only the effects of CF on the lungs will be discussed in detail.Cystic Fibrosis is an autosomal recessive genetic disorder (Orenstein, 192). This means that, in order for a child to be affected by CF, his/her phenotype must be homozygous for the CF allele. That is he/she must have received a CF gene from both the mother and the father. If the child received only one CF gene from either the mother or the father then the child is considered to be a carrier and does not express the CF trait. If a couple were to have a child, the probability of the child having/carrying the CF trait can be predicted, given that we know both the couples phenotypes. Unfortunately most carriers of the CF allele are not aware that they are carriers until after they produce a child with CF.The defect gene itself is caused by irregular pattern of base pairs in the CF gene on chromosome seven. There are approximately 250,000 base pairs on the gene (Orenstein, 438). It is therefore easy to see how just a few of the base pairs can be deleted. The disorder is also called the delta F508 defect- the delta ("d") standing for deletion, the "F" for the particular amino acid that is missing (phenylalanine), and 508 for the 508th amino acid (phenylalanine) deleted on the gene (Orenstein,496).The CF gene is responsible for producing a channel, or pump, that is normally inserted into the surface of cells lining the various ducts in the liver, pancreas, sweat glands, intestines, and airways of the lungs (Fackelmann, 3). This channel is called the cystic fibrosis transmembrane regulator (CFTR) (Fackelmann, 3). Once produced by the CF gene and inserted into cells, the CFTR acts as a gate mechanism that allows for the transportation of chloride ions across cell membrane into the mucous layer (Fackelmann, 3). The negatively charged chloride ions pull across the positively charged sodium ions. Thus there is a higher concentration of sodium chloride (salt) in the cells luminal membrane . Water is then transported through a process known as osmosis to the outside of the cells membrane into the mucous layer. As a result, this controls the thickness...

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