Rapid determination of gene structure using cdna sequence

C - Chemistry – Metallurgy – 12 – Q

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C12Q 1/68 (2006.01)

Patent

CA 2398683

The present invention is drawn to a method of identifying boundaries between exon and non-exon regions of genes. In addition to the boundary between said regions, the boundary between sequence on the 5' and 3' termini of the non- exon region is determined. Furthermore, sequence within the non-exon regions, e.g., sequence at the 5' and 3' termini of the non-exon regions sequence upstream and downstream of the coding regions of the gene (i.e. within the 5' and 3' non-translated regions, respectively) is determined. Therefore, as a result of the method of the present invention, gene structure can be determined without the need to sequence the entire gene. The present invention is useful, for example, in germ line sequence variation analysis.

La présente invention concerne un procédé qui permet d'identifier des limites entre des régions de séquence codante (exon) et de séquence non codante (non-exon) de gènes. En plus de la limite entre lesdites régions, la limite entre la séquence sur les terminaisons 5' et 3' de la région non-exon est déterminée ainsi que la séquence située dans les régions non-exon, par exemple la séquence située au niveau des terminaisons 5' et 3' des régions non-exon de la séquence en amont et en aval des régions codantes du gène (c'est-à-dire dans les régions non traduites 5' et 3' respectivement). Par conséquent, il est possible de déterminer la structure génique au moyen du procédé selon l'invention, sans devoir pour autant séquencer le gène tout entier. La présente invention est utile, par exemple, pour analyser la variation de la séquence de lignée germinale.

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