Patterns with Genetic Disorders

Marking single nucleotides has often been used in order to identify genetic disorders and diseases. This has been useful however it has been suggested that identifying markers, called haplotypes, on chromosomes may be more effective. However due to a lack of technological advancement we are currently unable to identify exactly where the haplotypes are. On the other hand there has been enough advancement to lead to genome-wide association studies. Since there is a large quantity of tests only certain loci, places that were identified as markers, were able to pass the level set for usage. Yet all of the loci are still there and could be used to identify where the haplotypes are. There are more haplotypes than single nucleotides thus statistics is required in order to be able to map all of them. By examining patterns in the single nucleotides the scientists were able to discover where certain haplotypes were and deduce a pattern. This pattern was then able to be put to an equation very much like what one does in basic math; one plus one is two, two plus two is four and so forth. Granted the equation is more complicated, but that is due to the complicated matter of the material where the pattern exists. This formula, called a multi-locus stepwise regression allows for the identification of allele combination for genetic defects. So what exactly does this mean and what makes it so important? Genetic disorders arise from alterations of genes and how the alleles interact. By looking at a pedigree, a family tree which shows the pattern a genetic disorder within a family may have. This is a very useful technique however this is only based on information of the past and goes off the identification of a phenotype. If a phenotype, a physical manifestation of a gene, is not visible then one is unable create a pattern. There is also the fact that an individual may just be a carrier, not showing a disorder but having the possibility of passing it down to their offspring. Even now, we are still unable to fully map all of the potential genotypes, combinations of alleles which lead to the phenotype, within the human body. Though not by much, the possibility of finding a pattern of a genetic disorder within a gene itself has the potential for many outlets. One could start by identifying a pattern in all known genetic disorders, though tedious this would lead to the ability to identify exactly where the disorder arises from and the potential to combat them. Another route could be the ability of, instead of focusing on disorders; one could work to potentially map the human genome. Though just a possibility right now, the ability to find a pattern within a gene of a genetic disorder is a stepping stone, maybe the ability to stop a genetic disorder from arising before it even begins may arise eventually; or we may just become like Gattaca but that is for the future to decide.

Bibliography
Multi-locus stepwise regression: a haplotype-based algorithm for finding genetic. (2012, January 27). Retrieved Febuary 2012, from BioMed Central: http://www.biomedcentral.com/content/pdf/1471-2350-13-8.pdf

Halden Hoover