2013년 10월 23일 수요일

Founder Mutations


         A founder mutation one type of gene mutation observed with high frequency in a group that is or was geographically or culturally isolated, in which one or more of the ancestors was a carrier of the mutant gene. Unlike hot-spot mutation that pertains to individual units of DNA, founder mutation affects a larger stretch of DNA known as the haplotype, allowing the scientists to trace the origin and estimate the age of mutation—the shorter the haplotype, the greater the age of genetic aberration.

         Although many examples of founder mutation such as sickle cell anemia or cystic fibrosis can be extremely detrimental to humans, they all have survived through countless number of generations and keep on plaguing the people even today. That many founder mutations did not disappear through natural selection explains evolution not as a process of improvement but of adaptation. The genetic mutations that are lethal in the modern American environment could have in fact been beneficial to survival in other places of the ancient times—for instance, back when malaria was an incurable disease that entailed nothing but death in Africa, those who had sickle cell anemia whose deformed anemia prevented them from having malaria had a higher chance of survival even despite detrimental symptoms. As the African population migrated to other regions (in this case through the slave trade) and formed new gene pools by intermingling with other races, the founder mutation that used to be unique to the African continent was widely spread. Unfortunately, in temperate zones like America where malaria was not a practical threat to life, the sickle cell anemia no longer functioned as a beneficial genetic trait but as an extremely harmful one. This phenomenon suggests that evolution is simply a gradual process of 'adaptation' to a particular environment. The byproducts of natural selection which human beings possess and demonstrate today in the environment to which they belong can all go to waste when the environment drastically changes. Adaptation is merely a relative concept, and it is therefore futile to define what's 'superior' or 'inferior' in a long term.             

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