Methods and probes relating to Smith-Magenis syndrome and the RAI1 gene
OwnerSarah H. Elseainventor
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Abstract
Method and probes are disclosed to assist in the diagnosis of Smith-Magenis syndrome (SMS). These methods include the use of probes that are specific for the retinoic acid induced (RAI1) gene. The probes are added to a genetic sample from a subject and the presence or sence of the RAI1 gene is determined. Alternatively, the genetic sample from the subject is sequenced to determine whether there is a mutation in the RAI1 gene. The deletion or mutation of the RAI1 gene leads to most of the phenotypic features of SMS.
Claims23
A method of detecting the deletion or presence of the RAI1 gene, comprising:
- contacting a target nucleic acid with a reagent that detects heterozygous deletion of the RAI1 (retinoic acid induced 1) gene in a target nucleic acid.
A method of detecting the deletion or presence of the RAI1 gene, comprising:
- applying a fluorescently labeled probe to the chromosomes of a patient, which will hybridize in the presence of the RAI1 gene, said probe including a reagent being selected from the group consisting of:
- RPCI-1 253P07;
- RPCI-2 281I13;
- cosmids 83H6, 92C8, 94G3, 118C5, 12533 and 129D 1;
- and the RAI1 primers listed in Table 1.
A method of diagnosing Smith-Magenis syndrome in a human subject comprising:
- conducting a sequence analysis of the subject chromosomes to determine whether a mutation of the RAI1 gene exists.
A method of diagnosing Smith-Magenis syndrome in a human subject comprising:
- contacting in situ the chromosome material of the subject with a fluorescently labeled reagent that will hybridize with the RAI1 gene in order to determine the presence of RAI1 on one or both of the chromosomes 17.
A method of diagnosing Smith-Magenis syndrome in a human subject, comprising:
- contacting a target nucleic acid with a reagent that specifically detects heterozygous deletion of the RAI1 (retinoic acid induced 1) gene in a target nucleic acid.
A probe for diagnosing Smith-Magenis syndrome comprising a reagent that detects the presence of the RAI1 gene and a fluorescent label that is attached to said reagent.
A probe for diagnosing Smith-Magenis syndrome comprising a reagent that detects the presence of the RAI1 gene.
Dependencies are inferred from the claim text.