Gene Responsible For Huntington 's Disease Essay

1399 Words Mar 16th, 2016 null Page
Previous studies have established that the gene responsible for Huntington’s disease (HD) is located in chromosome 4 – labeled as 4p16.3. Early symptoms of the disease include chorea or involuntary movements, loss of balance, as well as cerebral atrophy1. Although the disease has a late onset, juvenile form of the disease is also probable. The disease is manifested in children and teenagers and is characterized by transmission from an affected father (paternal transmission effect), unusually large repeat size of nucleotides, and rigidity and seizure disorder2. The neuropathology of the disease shows selective loss of neurons that is most severe in caudate and putamen. Despite heavy research, the treatment to effectively delay or prevent the onset and progression of the disease has still yet to be discovered. Since the first discovery of the disease locus in chromosome 4, positional cloning approach to isolate and characterize the disease gene based on refining its localization has been pursued. Some of the techniques used to localize the disease gene include generating new genetic markers, establishing genetic and physical maps, cloning of the 4p telomere of the HD chromosome in yeast artificial chromosome clone (YAC), establishing YAC and cosmid contigs, and analysis of a number of candidate genes as well as the recombination events in HD kindreds. The latter has identified a possible candidate region of the disease gene. It is 2.2 Mb and located between D4S10 and D4S98 in…

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