Method and probes for detecting markers bound to the locus of child spinal muscular atrophies

摘要

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.