Organic compounds -- part of the class 532-570 series – Organic compounds – Carbohydrates or derivatives
Patent
1995-10-24
1997-09-30
Marschel, Ardin H.
Organic compounds -- part of the class 532-570 series
Organic compounds
Carbohydrates or derivatives
435 6, 536 231, 536 232, 536 2432, C07H 1900, C07H 2102, C07H 2104, C12Q 168
Patent
active
056726945
ABSTRACT:
Disclosed herein is a substantially pure nucleic acid sequence encoding a mammalian 43 kDa non-dystrophin component (.beta.-sarcoglycan) of the dystrophin-glycoprotein complex. Also disclosed are immunogenic peptides which, when used to immunize a mammal, stimulate the production of antibodies which bind specifically to the .beta.-sarcoglycan. Mutations in the .beta.-sarcoglycan gene which are associated with autosomal recessive limb-girdle muscular dystrophy are also disclosed. The identification of such mutations enables the design of nucleic acid probes which hybridize specifically to a mutant form of .beta.-sarcoglycan, or the complement thereof, but not to the DNA of the wild-type form of the gene (or the complement thereof), under stringent hybridization conditions. Such probes are useful, for example, in connection with the diagnosis of autosomal recessive limb-girdle muscular dystrophy. In addition, the identification of such mutations enables the diagnosis of autosomal recessive limb-girdle muscular dystrophy through the use of direct DNA sequencing techniques.
REFERENCES:
Speer et al., Am. J. Hum. Genet. 50: 1211 (1992).
Bashir et al. Hum. Mol. Genet. 3: 455 (1994).
Ben Othmane et al., Nature Genet. 2: 315 (1992).
Azibi et al., Hum. Mol. Genet. 2: 1423 (1993).
Beckmann et al., C.R. Acad. Sci. Paris 312: 141 (1991).
Roberds et al., Cell 78: 625 (1994).
Richard et al., Cell 81: 27 (1995).
New England Biolab Catalog, Beverly, MA, USA, p. 56 and p. 61 1986.
Sigma Chemical Company Catalog, p. 1639 1990.
Beckmann Jacques S.
Broux Odile
Campbell Kevin P.
Duclos Franck
Fardeau Michel
Farrell Kevin M.
Marschel Ardin H.
Riley Jezia
University of Iowa Research Foundation
LandOfFree
.beta.-sarcoglycan nucleic acid sequence, and nucleic acid probe does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with .beta.-sarcoglycan nucleic acid sequence, and nucleic acid probe, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and .beta.-sarcoglycan nucleic acid sequence, and nucleic acid probe will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-2257445