Ten years ago researchers from the U.S., Britain, France, Germany, Japan and China sat down and began developing the most important map ever made. Instead of roads and landmarks, this was a map of letters. It was “a rough map of the 3 billion letters of genetic instructions that make us who [we] are” (“First”). On Monday, 26 June 2000, the researchers announced that the map of the human genome was complete.
On 26 June 2000 the news of the completion of the human genome was on all the major news wires, televisions and newspapers. What does it mean though? How will this help mankind? One area to which this knowledge can be applied ...view middle of the document...
Mutations are very rare in human beings. Most mutations occur in recessive alleles and are not passed on from generation to generation. In some cases the mutant alleles are found to be more common, and the harmful effects become known as genetic disorders (Johnson 178).
Although genetic disorders are rare, some have been found to be more common than others. One such disease is Hemophilia. This disease occurs in 1/10,000 Caucasian males. Hemophilia is a mutation of one of the proteins used in the blood clotting process. When a blood vessel is cut or ruptured, a dozen or more proteins will go to work causing the blood to clot. If any one of these proteins fails to do its part, the clotting process will be slow or non-existent. This can cause an individual with a small cut to bleed to death.
Another more common genetic disorder is Sickle-Cell Anemia. This is a recessive disorder in which afflicted individuals have defective molecules of hemoglobin. Hemoglobin is a protein within red blood cells used for carrying oxygen. The mutation causes the hemoglobin molecules to stick together forming a sickle-shaped cell. These cells have trouble moving through the smallest blood vessels and tend to build up, blocking the vessel.
As stated earlier, most diseases are caused by recessive alleles. This means that both parents would have to carry the recessive allele in order for it to be passed on to their offspring. There are, however, a few genetic diseases that are caused by dominate alleles. One such disease is Huntington’s. Approximately 1 in 24,000 individuals develop this disease. This disease causes progressive deterioration of brain cells. Unlike recessive genetic disorders, all individuals carrying this allele will display the disorder.
While researchers are still working on a cure for genetic disorders, there are a number of ways the physicians are able to prevent some of the diseases. One way that scientists and physicians are able to prevent the spread of these horrible diseases is through genetic counseling. Genetic counseling is a process of identifying whether a given disease is likely to recur in a family. There are a number of variables that will help the counselor determine if the disease is likely to recur. These variables include such things as family history and the characteristics of the disease itself. Genetic counseling is recommended for couples who are planning to conceive and have already had a child with a genetic disorder and for couples with one or more relatives that have a genetic disorder (“Management” 737).
Genetic counseling only identifies the risk of the disease recurring. Once the risk is identified, the couple is faced with some very tough choices. Couples usually have four options to chose from if they are at risk. The first choice is to just accept the risk and...