Abstracts » Zoology and wildlife conservation

Identification of an Alu retrotransposition event in close proximity to a strong candidate gene for Huntington's disease

Article Abstract:

An investigation was conducted to isolate the gene responsible for Huntington's disease (HD). A direct cDNA selection strategy was used to narrow down the region of interest, resulting in the identification of seven clones within this region. One of the clones detected an insertion of 331 base pairs in two HD patients. Sequence analysis showed that the insertion element is a member of the Alu family and lies in close proximity to the alpha-adducin gene and another gene encoding a 12-kb transcript. Since the Alu insertion is not likely to affect the expression of the alpha-adducin gene, the second gene is a strong candidate forthe HD gene.

Physiological aspects, Genetic aspects, Identification and classification, Translocation (Genetics), Huntington's chorea, Huntington's disease, Transposons

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Michael Smith (1932-2000)

Article Abstract:

The life and career of Michael Smith, gene scientist, is profiled. Smith won the Nobel prize in Chemistry in 1993 for work on the development of site-specific mutagenesis.

Obituary, Scientists, Smith, Michael

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