유전자 질환에 관한 에세이(Huntington’s disease )
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- 2009.07.12
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- 2009.03
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캐나다 모 대학교 생물학 강의에 제출하여 A학점을 받은 영문에세이 입니다.
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본문내용
Huntington’s disease is a genetic neurological disorder, first described in 1872 by George Huntington. Its inheritance pattern is autosomal dominant1. Pathological analysis has shown that neuronal loss or degeneration appears in the brain of a patient with this disease, most concentrated in the regions of corpus striatum and cerebral cortex layers 2. As a result, an individual with this disease exhibits personality changes, uncontrolled movement and emotion, and decrease in cognitive, resulting in dementia. 3 The ultimate cause of Huntington’s disease is an increase CAG nucleotide repeats in the open reading frame region of the Huntington gene, abbreviated as HD or IT15. In 1993, HD gene was discovered that the mutated version of this gene with extremely long CAG repeats on chromosome 4 of the gene 4 (36 repeats or more 5) causes an expanded poly-glutamine protein. Mechanism behind DNA mutation still remains unknown; however to examine the pathology on a molecular level,
참고 자료
[1] Pinker S. My Genome, My Self – Steven Pinker gets to the Bottom of this own Genetic Code. The New York Times. January 11, 2009.
[2] Savoiardo M, Strada L, Oliva D, Girotti F & D`Incerti L. Abnormal MRI signal in the rigid form of Huntington`s disease. Journal of Neurology, Neurosurgery, and Psychiatry. 54:888-891(1991)
[3]Griffiths AF. et al. Introduction to Genetic Analysis. 9th ed. pp: 68-9. New York, NY: W.H. Freeman and Company. 2008.