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Bloom syndrome - Essay Example

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Bloom syndrome is a genetic disorder that occurs due to the inability to conserve the genomic structure of the body.The mishap in genetics comes because of crossovers of sister chromosomes;the syndrome is brought by autosomal resseciveness of BML gene…
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Bloom syndrome
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Download file to see previous pages Bloom disease predisposes individuals to cancer as it causes pro activity in suppressor cells that alters the division of cells to a hyperactive state (Cox, 2009). This disease is common amongst the Jews; the casualties appear short in stature and are sensitive to sunlight. The study of the journal considered purposed to establish the efficacy of BTB complex in Double Holliday Junction dissolution in prevention of crossovers. Indeed the study shows that dissolution of the DHJ using BTB is possible only with the combination of energy provider, ATP that is hydrolyzed by BLM and the complex mixed with a protein complex, Fanconi ammonia. This article I have to admit that the article embraces all the scientific controls and procedures that were well programmed and followed to ensure that the objective and hypothesis of the study is tracked to produce results that satisfies both validity and reliability. Notwithstanding, the article is short of coherency and unequivocal state of the objectives of the study amongst other oversights. Introduction Bloom disease is one of the rarest diseases that are known today, it is a genetically disease that occurs in a homozygous recessive situation. The disease occurs due to the crossing over of the chromosomes during cell division, i.e. meiosis (Modrich, 2006). During this stage of cell division, fragment of the Deoxyribonucleic Acids (DNA) are realized due to the unwinding nature of the DNA at this stage. These fragments later rejoin randomly leading to alteration of the initial genomic structure and one resultant features is the bloom disease (Modrich, 2006). Specifically, bloom disease due to the changes discussed above occurs due to mutations at the BLM gene (Cohen, 2004). The disease is hereditary and can be passed to the offspring by the parents who are carriers. Bloom disease is known to be responsible for a number of misfortunes in human beings; the disease causes cancers as it makes the regulatory genes in the human body to be hyperactive leading to the uncontrolled proliferation of cells causing cancers (Tropp & Freifelder, 2008). The occurrence of cancers in this case is observed even in young children, this has made the disease to be known for causing old age diseases in children. The individuals with this disease also show a short a stature and may prompt acquisition of other medical conditions like diabetes type II, color change of the skin making the individuals to be vulnerable and sensitive to sunlight, and chronic pulmonary disease (Tropp & Freifelder, 2008). The prevalence of the disease is high amongst the Jews and that for every one hundred Jews, there is an individual with the bloom disease (Modrich, 2006). The article critique has revolved around the bloom disease in the capacity of mitigating the cause and finding the most appropriate item to be used in mitigation efforts. The article identifies the disease and looked at how it occurrence and the factors that accelerate its occurrence. The gene responsible for this disease is identified as BLM. BLM is found in the human genome and is one of the human RecQ genes (Waldman, 2004). RecQ genes are important in the maintenance of genetics in both the prokaryotes and the eukaryotes. In prokaryotes, the RecQ genes are important in ensuring that the structure of the genome is maintained despite the gene recombination that takes place in the bacteria (Waldman, 2004). There are about five RecQ genes in human of which all strive to maintain the originality of the genome in order to arrest erratic gene disruption that may cause genetic disorder of bloom’ ...Download file to see next pagesRead More
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