Survival motor neuron (SMN) gene: a gene for spinal muscular atrophy

A method of detecting the presence or absence of a Survival Motor Neuron (SMN) gene in a nucleic acid sample, the method comprising:

• a) amplifying nucleic acid contained in the sample with primers that amplify all or a portion of the SMN gene, wherein the gene comprises SEQ ID NO:
• 22;
• and
• b) detecting the presence or absence of amplified product, wherein the presence of amplified product indicates the presence of the SMN gene in the sample and the absence of amplifies product indicates the absence of the SMN gene in the sample.

A method for detecting the presence or absence of a truncation, a deletion or a mutation in a Survival Motor Neuron (SMN) gene comprising SEQ ID NO:

• 22, in a patient sample, comprising:
• a) amplifying DNA obtained from a patient sample with primers, wherein each primer comprises a sequence selected from the group consisting of SEQ ID NOS:
• 5 to 8 and 24 to 57;
• b) subjecting the amplified DNA to Single-Strand Conformation Polymorphism (SSCP) analysis, wherein the analysis comprises comparing a pattern of DNA fragments obtained from the patient sample to a pattern of DNA fragments obtained from a control sample to detect alterations in the patient gene;
• and
• c) detecting the presence or absence of the truncation, deletion or mutation in the Survival Motor Neuron gene.

A method for detecting the presence or absence of Spinal Muscular Atrophy in an individual, comprising:

• a) hybridizing a DNA sample obtained from the individual with a DNA probe comprising all or part of the DNA sequence of SEQ ID NO:
• 22 under conditions having the stringency of 10% Dextran Sulphate Sodium, 1 M NaCl, 0.05M Tris-HCl pH 7.5, 0.005M EDTA and 1% SDS at 65° C.;
• and
• b) detecting the hybrids formed, wherein the absence of detectable hybrids is indicative of the presence of Spinal Muscular Atrophy in the individual.

A method for detecting the presence or absence of one or more mutations in a Survival Motor Neuron (SMN) gene in a nucleic acid sample, comprising:

• a) analyzing the nucleotide sequence of the nucleic acid in the sample, and
• b)comparing the nucleotide sequence of the sample nucleic acid to reference SMN nucleic acid sequence, wherein the reference SMN nucleic acid sequence consists of SEQ ID NO:
• 22, and
• c) determining the presence or absence of differences between the sequence of the nucleic acid in the sample and the sequence of the reference SMN nucleic acid, wherein the presence of one or more differences in the nucleic acid sequence of the sample indicates the presence of one or more mutations in the sample SMN gene, and the absence of one or more differences in the nucleic acid sample indicates the absence of mutations in the sample SMN gene.

A kit comprising:

• a) an oligonucleotide probe that hybridizes to all or portion of an SMN gene wherein the gene comprises SEQ ID NO:
• 22;
• and
• b) reagents for a hybridization reaction.

A kit for the in vitro detection of a truncation, a deletion or a mutation of a survival motor neuron gene comprising SEQ ID NO:

• 22 comprising:
• a) a set of primers wherein said primers comprise a sequence selected from the group consisting of SEQ ID NOS:
• 5 to 8 and 24 to 57;
• b) reagents for an amplification reaction;
• and
• c) an oligonucleotide probe for the detection of the amplified product.

A kit for the in vitro detection of a truncation, a deletion or a mutation of a survival motor neuron gene comprising:

• d) a set of primers wherein said primers comprise a sequence selected from the group consisting of SEQ ID NOS:
• 5 to 8 and 24 to 57, wherein the primers amplify a survival motor neuron gene comprising SEQ ID NO:
• 22;
• e) reagents for an amplification reaction;
• and
• f) an oligonucleotide probe for the detection of the amplified product.