Detection of trinucleotide repeats by in situ hybridization

Chemistry: analytical and immunological testing – Heterocyclic carbon compound – Hetero-o

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436164, 436172, 436800, 436805, 435 6, 536 231, 536 243, 536 2433, G01N 3300, G01N 2176, C12Q 168, C07H 2104

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active

059623322

ABSTRACT:
Disclosed is a method of detecting a trinucleotide repeat expansion by in situ hybridization. The disclosed method uses a sample of nucleated cells, a labeled trinucleotide repeat-specific probe and detection of the hybridized probe by a means whose sensitivity distinguishes between the signal from probes hybridized to an expanded repeat and the signal from probes hybridized to a non-expanded repeat.

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Caskey, C., et al., "Triplet Repeat Mutations in Human Disease," Science, vol. 256, pp. 784-789, May 8, 1992.

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