Method of diagnosing spinal muscular atrophy

Details Method of diagnosing spinal muscular atrophy Method of diagnosing spinal muscular atrophy

1997-04-14

1999-03-16

Myers, Carla J.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 536 2431, 536 2433, C12Q 168, C07H 2104, C12P 1934

Patent

active

058828680

ABSTRACT:
A diagnostic method for determining whether an individual is affected with spinal muscular atrophy involves evaluating the relative amounts of exon 5 of Neuronal Apoptosis Inhibitory Protein (NAIP) and exon 7 of centromeric and telomeric Survival Motor Neuron (SMN) genes in a genomic sample from the subject. A PCR analysis employing NAIP5F, NAIP5R, SMNX7DRA and SMNR111 primers is used to amplify the desired genes. The PCR product is digested with an enzyme which recognizes only the centromeric SMN sequence and the digested product can be separated by electrophoresis. The novel method allows multiplex analysis for both NAIP and SMN genes in the same sample work up. The analytical procedure further permits the digestion to be carried out without prior purification of the PCR product. Very importantly, the analytical procedure provides for the ability to diagnose the heterozygous telomeric SMN phenotype and thus allows the non-affected carrier of spinal muscular atrophy to be identified.

REFERENCES:
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