Construction of a deafness gene chip

Details Construction of a deafness gene chip Construction of a deafness gene chip

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2516463

The present invention is related to diagnostic arrays comprising primers for various regions of candidate genes involved in hearing loss, specifically pediatric hearing loss. The invention further is directed to methods for diagnosing a cause or risk factor for hearing loss. In some embodiments, these methods include obtaining a sample from a patient; screening the sample for the presence or absence of alleles of at least 5 loci associated with a risk for hearing loss to obtain a result of the screening; and making a diagnosis based upon the result. The present invention is also directed to the amplification of genetic sequence from multiple or single exons for use in the screening of samples.

Cette invention concerne des systèmes diagnostiques comprenant des amorces pour diverses régions de gènes candidats intervenant dans la perte auditive, en particulier dans la perte auditive chez l'enfant. Cette invention concerne également des méthodes de diagnostic d'une cause ou d'un facteur de risque de perte auditive. Dans certains modes de réalisation, ces méthodes consistent à prélever un échantillon sur un patient ; à analyser l'échantillon afin de déterminer la présence ou l'absence d'allèles d'au moins 5 loci associés à un risque de perte auditive afin qu'on obtienne un résultat de l'analyse ; et à établir un diagnostic sur la base de ce résultat. La présente invention concerne également l'amplification d'une séquence génétique composée d'un seul ou de multiples exons servant à l'analyse d'échantillons.

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