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Chromosomes And Disease

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Human Chromosomes Evolved At Hyperspeed To Give Us Better Brains, But There's A Catch

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Huntington's Disease: The Discovery Of The Huntingtin Gene

As previously mentioned, HTT was first mapped to a specific chromosome in 1983. At that time, James F. Gusella and colleagues carried out a study to determine whether they could identify a DNA probe that would show an HD-associated restriction fragment length polymorphism (RFLP) when used in Southern blot analyses of chromosomal DNA digested with the restriction enzyme HindIII (palindromic recognition sequence 5'-AAGCTT-3'). The team identified one probe out of 12 tested, called G8, that showed a specific RFLP pattern associated with HD in two large families with a history of the disease (Gusella et al., 1983). Using the G8 probe, they next identified two HindIII sites (called H1 and H2) that were palindromic within this chromosomal region. DNA fragments at these sites vary in length among different HD lineages. Because researchers used two large pedigrees in these experiments, they were able to obtain statistical support for their discovery (Figure 3). To obtain this pedigree information, Nancy Wexler, a prominent HD researcher, followed up on reports of a high incidence of HD in two Venezuelan communities located near Lake Maracaibo. Through her visits to the Lake Maracaibo region, Wexler found that the region's HD had originated with a single founder, suggesting that all affected individuals would carry the same original mutation as the founder. Over a period of more than 20 years, Wexler's research team was able to establish extensive pedigrees with medical histories. Together with a large HD-affected family in Ohio, the Venezuelan family provided the necessary variation among the H1 and H2 HindIII restriction site patterns that segregated with the HD in both families (Figure 4). This played a key role in mapping the HD gene (Gusella et al., 1983).




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