Diagnosis of myotonic muscular dystrophy

Details Diagnosis of myotonic muscular dystrophy Diagnosis of myotonic muscular dystrophy

1993-06-06

1996-09-03

Jones, W. Gary

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 911, 435 912, 435 9121, 536 2431, 536 235, 536 2433, 536 253, 935 1, 935 4, 935 8, 935 76, 935 77, 935 78, C12Q 168, C12P 1934, C07H 2104, C12N 1500

Patent

active

055522823

ABSTRACT:
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.

REFERENCES:
Rick Weiss, "Dazzled by Tortured Data", Washington Post Health, Nov. 23, 1993, p. 6.
Bartlett et al., Science, vol. 235, pp. 1648-1650, Mar. 27, 1987.
Sambrook et al., Molecular Cloning A Laboratory Manual, 2nd Ed., Cold Spring Harbor Laboratory Press, 5, 2-3.58, 1989.
Burke et al., Science, vol. 236, 806-812, 15 May 1987.
MiLunsky et al., American J. Obstet. Gynecol., vol. 164, No. 3, 751-755, Mar. 1991.

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