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Huntington’s disease (HD) remains one of the causes of death in many people, which necessitates genome analysis. In their study, Warby et al. (351) investigate the phenomenon of CAG expansion in HD. According to the authors, there is a gap in the knowledge of the subject matter, namely, regarding the way in which the CAG repeats in GD. Overcoming the specified problem is critical to the realm of healthcare since it will provide an opportunity to introduce a cure for HD.
The authors strive to evaluate the genetic diversity in the HD gene (HTT). They claim that, by locating the connection between SNP alleles and HTT, one will be able to create a therapy for HD patients. In particular, the authors strive to prove that there is a direct link between SNP and HTT, as well as that a single haplogroup can contain CAG-expanded chromosomes (Warby et al. 352). The specified study delivers the results that are expected to inform the further choice of therapies for people with HD.
The results of the study provide a range of information concerning the link between SNP and HTT. Specifically, according to Warby et al., 190 SNPs were located in the course of the analysis (361). Out of the specified genes, most were common, with the levels of minor allele frequency (MAF) of >0.20 (Warby et al. 362). In addition, the frequency of the SNP distribution was rather high, with 12 alleles out of 22 being strongly associated with HD (Warby et al. 363). The variables of the research included SNP and HTT as the key agents. The authors of the study explain that CAG-expanded chromosomes were located within the selected haplogroup (Warby et al. 362).
Therefore, it can be concluded that there is a possibility of locating the mutant gene that will allow reducing the threat of HD in patients. The performed experiments included the phylogenetic and linkage analysis and allowed defining and drawing the trees in each genetic linkage (Warby et al. 363). Particularly, the figure that shows the genetic diversity rates in the Human HTT Region. The scheme illustrates the location of 190 SNPs and shows whether significant diversity levels can be observed in the identified region. As a result, a better insight into the connection between the variables and the effects that they have on each other is developed.
The outcomes of the study indicate that CAG expansion in HTT is linked strongly to the SNP set within a particular haplogroup. Consequently, it can be assumed that the instability of CAG can be controlled once the expansion model is established properly. The outcomes of the analysis allow the researchers to claim that there is a possibility of the mutation causing unaffected carriers to emerge and affect the gene pool of future generations (Warby et al. 365).
Thus, it is critical to conduct further studies in order to locate the tools for reducing the negative impact that the carriers of HD may have on vulnerable populations. The outcomes of the analysis are linked directly to previous studies that determined the possibility of HD being caused by the connection between HTT and SNP. Therefore, the results seem to be consistent with the set expectations, yet there is the need to define the methods of reducing the threat that unaffected carriers contain. Therefore, the research implications have a direct effect on nursing practice since family history and the analysis of patient’s genetic makeup will be crucial for determining the threat of HD in younger populations.
Warby, Simon C., et al. “CAG Expansion in the Huntington Disease Gene is Associated with a Specific and Targetable Predisposing Haplogroup.” The American Journal of Human Genetics, vol. 84, no. 3, 2009, pp. 351-366. Web.