Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1996-01-03
1998-03-31
Marschel, Ardin H.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
536221, 536 231, 536 235, 536 243, C12Q 168, C07H 1900, C07H 2102, C07H 2104
Patent
active
057337322
ABSTRACT:
Disclosed herein are compositions and methods for the detection of primary adhalinopathy. More specifically, disclosed herein are nucleic acid probes which hybridize specifically, under stringent hybridization conditions, to a mutant adhalin gene or the complement thereof, but not to the corresponding region of a wild-type adhalin gene. Also disclosed are methods for the detection of a mutation in the human adhalin gene which is responsible for primary adhalinopathy. Such methods include the use of the nucleic acid probes of the invention for detection of the myopathy by hybridization, as well as detection by direct DNA sequencing techniques.
REFERENCES:
patent: 5270163 (1993-12-01), Gold et al.
patent: 5362631 (1994-11-01), Calabretta
patent: 5420029 (1995-05-01), Gelfand et al.
Roberds et al. "Missense Mutations in the Adhalin Gene linked to Autosomal Recessive Muscular Dystrophy", Cell, vol. 78, pp. 625-633, Aug. 1994.
McNally et al., Proc. Natl. Acad. Sci. USA 91: 9690 (1994).
Romero et al., C.R. Acad. Sci. Paris 317: 70 (1994).
Matsumara et al., Nature 359: 320 (1992).
Piccolo, F., et al., Nature Genetics, 10: 243 (1995).
Campbell Kevin P.
Jeanpierre Marc
Kaplan Jean-Claude
Piccolo Federica
Roberds Steven L.
Farrell Kevin M.
Marschel Ardin H.
Riley Jezia
University of Iowa Research Foundation
LandOfFree
Methods for detecting primary adhalinopathy does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Methods for detecting primary adhalinopathy, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Methods for detecting primary adhalinopathy will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-50789