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AssigneeBaylor College of Medicine
InventorsC. Thomas Caskey, Ying-Hui Fu, David L. Friedman, Antonio Pizzuti, Raymond G. Fenwick
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The present invention includes a DNA clone from the myotonic muscular dystrophy gene, a cosmid probe to the myotonic dystrophy site, as well as methods of detecting myotonic muscular dystrophy using RFLP. The method involves the steps of digesting DNA from an individual to be tested with a restriction endonuclease and detecting the restriction fragment length polymorphism with hybridization to probes within the myotonic muscular locus and southern blot analysis. Alternatively, the myotonic muscular dystrophy gene can be measured by determining the amount of mRNA or measuring the amount of protein with an antibody. Further, the myotonic muscular dystrophy gene defect can be detected using either fluorescence in situ hybridization or pulsed field gel electrophoresis using the probes described herein.
A method of screening, whereby individuals at risk for developing DM are identified, said method comprising the steps of:
A method of screening, whereby individuals at risk for developing DM are identified, said method comprising the steps of measuring expression of a DM gene by determining an amount of mRNA expressed from the DM gene and from known controls, and comparing the amount of mRNA from the DM gene to the amount from the known controls.
A method to detect a mutation at a DM locus comprising the step of detecting variation of (GCT).sub.n repeats at the 3' end of a Mt-PK gene by measuring the length of the repeat, wherein the number of repeats for normal ranges between 5 and 33, and the number of repeats for DM is greater than 35.
A method of detecting a length of a GCT polymorphism at a 3' end of a Mt-PK gene comprising the steps of performing a PCR assay with oligonucleotide primers to produce amplified products and measuring the length of the amplified products, wherein the oligonucleotide primers are SEQ. ID. No. 2 and SEQ. ID. No. 3.
A method of screening, whereby individuals at risk for developing autosomal genetic disease are identified, said method comprising the steps of detecting variation of a GC-rich triplet repeats at the 3' end of a gene by measuring the length of the repeat wherein the number repeats for normal ranges between 5 and 33 and the number of repeats for diseased is greater than 35.
A cosmid probe to a (GCT).sub.n repeat derived from YAC clones 231G8 and 483E7 which cover the DM genomic region.
Dependencies are inferred from the claim text.