Nucleic acid size detection method

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01) C12P 19/34 (2006.01)

Patent

CA 2665723

The present invention provides methods of determining the size of a particular nucleic acid segment of interest in a sample of nucleic acids through fragmentation of DNA, size fractionation, an optional second fragmentation, and identification using a marker sequence. In particular aspects, an expansion or reduction of tandem repeat sequences can be detected. In further aspects, carriers and individuals afflicted with fragile X syndrome or other diseases associated with tandem repeats can be distinguished from normal individuals.

La présente invention concerne des procédés de détermination de la dimension d'un segment d'intérêt d'un acide nucléique particulier dans un échantillon d'acides nucléiques par fragmentation de l'ADN, fractionnement en dimension, une seconde fragmentation facultative, et identification à l'aide d'une séquence marqueur. Dans des aspects particuliers, une expansion ou réduction de séquences de répétition en tandem peut être détectée. Dans d'autres aspects, des porteurs et individus atteints du syndrome de l'X fragile ou autres maladies associées à des répétitions en tandem peuvent être distingués par rapport à des individus normaux.

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