Method and probes for detecting markers bound to the locus...

Details Method and probes for detecting markers bound to the locus... Method and probes for detecting markers bound to the locus...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) C07H 21/00 (2006.01) C07K 14/475 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2191880

Method for the study of the chromosomic region believed to contain a gene involved, either by its presence or its absence, in child spinal muscular atrophy (SMA) and obtained from a patient or foetus suffering from said diseases or susceptible to said diseases. The method of the invention comprises contacting a chromosomic DNA sample from said person or foetus with a DNA strand capable of recognizing the polymorphic markers in the 5q13 chromosomal region under amplification conditions for extending its chains to and beyond the repeated sequences of said markers; then discriminating between the extended chains obtained on the basis of their respective lengths, to obtain data representative of the number of said markers.

Procédé pour l'étude de la région chromosomique réputée contenir un gène impliqué, soit par sa présence, soit par son absence, dans l'amyotrophie spinale infantile (SMA) et provenant d'un sujet (patient ou foetus) atteint ou susceptible d'être atteint. Ce procédé comprenant la mise en contact d'un échantillon d'ADN chromosomique de ce sujet ou foetus avec un brin d'ADN apte à reconnaître des marqueurs polymorphes de la région chromosomique 5q13 dans des conditions amplificatrices autorisant l'élongation de ses chaînes vers et au-delà des séquences répétées de ces marqueurs, puis à discriminer entre les chaînes d'élongation obtenues selon leurs longueurs respectives, pour obtenir des informations représentatives du nombre de ces marqueurs.

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