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The following is a review of the original scientific paper highlighting the discovery of the gene implicated in Huntington's disease. A discussion of a popular press article which reviews this research can be found here. A comparison between the two papers can be found here. The research paper produced by the Huntington’s Disease
Collaborative Research Group in 1993 highlights the detection and
characterization of the gene responsible for Hungtington’s Disease, described
as IT15 in the paper. The paper represents a major breakthrough in
research related to Huntington’s Disease and provided the basis of future
investigations of the disease on a molecular level. Here I make an
analysis of the research paper. The introduction provides a limited set of background details
on Hungtinton’s Disease, essentially enough to quickly refresh the reader of
major details of the disease. A general background on the nature of
Huntington’s is assumed by the authors. The introduction
serves to both highlight past research made in the detection of the
Huntington’s disease gene and to provide rationale for the current
experiment. The authors accomplish this in direct, step by step
descriptions of the relevant prior research, demonstratred in a linear
manner. The experimental strategy is also described, to a limited amount
of detail. The authors note the validity of their exon amplification
technique as a manner of obtaining gene sequences. The results section outlines the different experiments
conducted and the reasoning behind each method. The first step the
authors made was to determine the specific location of the gene through the
exon amplification technique. The general location of the gene on the
chromosome was known and well characterized, according to the authors, so the
exon amplification technique served to specifically identify the exact location
of the HD gene, IT15. The identified gene and protein sequences were
produced in its entirety in the paper, spanning two full pages.
Next, the authors searched for polymorphisms in the CAG repeat portion of the
gene to link the genetic information to the disease. This was conducted
by PCR of known Huntington’s Disease patients. After finding the number
of CAG repeats to be vastly increased in Huntington’s Disease patients, the
authors attempted to determine the relative stability of expansion. This
data led to the attempted determination of whether a CAG repeat mutation led to
new instances of Huntington’s Disease. The discussion section provides an overview of the results
and their relevance to both future research and the current diagnostic
procedures for Huntington’s Disease. The authors stress the mechanism in
which the protein actually leads to the disease. The authors indicate
this mechanism is of great importance, since other similar diseases. The
future of research into the disease is also discussed, highlighting the
potential of the data gained from these findings as a diagnostic tool, as well
as the link between CAG repeat quantity and age of onset. The paper provided an excellent presentation of an important
research breakthrough. I thought the linear, stepwise rational and
background information given in the introduction provided a comprehensive
overview of the research steps taken to reach the current state of
understanding on Huntingotn’s. In this manner, the current research
was presented as a step, albiet a large one, in the process of discovering the
cause of Hungtington’s Disease. In the discussion, the reader is
informed by the authors of possible future directions in research on the gene
IT15. Thus, the reader develops the sense of the discovery as a link in a
longer chain of events necessary to characterize and, eventually, treat Huntington’s
Disease. Finally, returning to the results section, the figures and
descriptions of experiments place a large amount of focus demonstrating
evidence for the validity of their methods. In this manner, after reading
the paper, the reader is likely to be thoroughly convinced the findings
presented in the paper are valid.
Reference: http://www.ncbi.nlm.nih.gov/sites/entrez?db=pubmed&cmd=search&term=8458085&dopt=b |
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