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Detection of trinucleotide repeats by in situ hybridization

  • US 5,962,332 A
  • Filed: 12/11/1995
  • Issued: 10/05/1999
  • Est. Priority Date: 03/17/1994
  • Status: Expired due to Fees
First Claim
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1. An in situ hybridization method for detecting a trinucleotide repeat expansion, wherein said method comprises the steps of:

  • (a) providing a sample of nucleated cells;

    (b) contacting said sample with a trinucleotide repeat-specific oligonucleotide probe, which probe comprises a covalently attached detectable label, under conditions that allow said probe to hybridize with said trinucleotide repeat expansion in said sample; and

    (c) detecting the hybridized probe by means of a detectable label, using a labeled detection threshold that is below signal strength of a signal from probes hybridized to an expanded trinucleotide repeat and above signal strength of a signal from probes hybridized to a non-expanded trinucleotide repeat.

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