Saturday, July 20, 2019

Single nucleotide polymorphisms and recombination rate in humans :: Biology Genetic Diversity

Humans have many of the same genes but also a lot of genetic variation. Therefore, gene sequencing is different in everyone. This genetic variation determines a person's eye color, hair color, and other traits. However, this is also why some people get diseases and others don't. In a chromosome, the distance from the centromere dictates the rate of recombination. There is less shuffling in the area around the centromere, so that leads to less variation. However, understanding variation is necessary in order to determine abnormal genes. A single gene is the basis for identifying the abnormality. By looking at non-random sites with gene differentiations, one can determine the gene that causes the disease. There is more variation in regions with recombination, which happens in meiosis. The rate at which the crossing over occurs varies, and this affects the variation present. Shuffling is not the only determinant for variation in a gene. Selection also plays a role. For example, A gene is superior to B gene. C gene is connected to A gene through genetic hitchhiking. If A gene is selected over B gene, C gene is also expressed frequently. This is known as genetic hitchhiking. A biological application of this is the malaria gene. The colorblindness gene is hitchhiked onto the malaria resistant gene. Therefore, when a person receives the malaria resistant gene they also receive the colorblindness gene. As a result, colorblindness occurs more frequently in places where malaria is affluent because the people who don't receive the malaria resistant gene die and the people who are resistant and colorblind live and pass on their genes. Implications The main implication of this experiment is that comparing the differences in the various genotypes of humans can illustrate genetic diseases. For example if a subject has a certain genetic disease, this paper states that you could compare the afflicted subject's genome to an unaffiliated person's genome and determine the location of the disease on the chromosome. If the location of genetic diseases are found then it is conceivable to screen fetuses for genetic diseases. This brings up ethical issues, would you want to know if your child has an incurable genetic disease? If genetic diseases are detected in a fetus then it may be possible to someday perform gene therapy. Gene therapy is the treatment of a genetic disease by providing patients with cells containing harmless and functional alleles for genes that are nonfunctional in their bodies.

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