Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth di

Details Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth di Molecular diagnosis of autosomal dominant Charcot-Marie-Tooth di

1993-09-30

1998-07-14

Campbell, Eggerton A.

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

536 231, C12Q 168, C07H 2102

Patent

active

057802238

ABSTRACT:
A description of an isolated CMTIA-REP sequence and DNA probes to the sequence. Methods for the use of such sequences and probes to detect peripheral neuropathies. A method for detecting Charcot-Marie-Tooth disease type 1 by measuring the presence or absence of a DNA duplication in a gene locus associated with the CMTIA-REP sequence. A method for detecting Hereditary Neuropathy with Liability to Pressure Palsies by measuring the presence or absence of a DNA deletion in a gene locus associated with the CMTIA-REP sequence.

REFERENCES:
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Chance, P. F., et al; DNA Deletion Associated with Hereditary Neuropathy with Liability to Pressure Palsies; Cell; 72:143-151; Jan. 15, 1993.
Chance, P. F., et al.; Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17; Human Molecular Genetics; vol. 3, 2:223-228; 1994.
Chance, P. F., et al.; Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17; Human Molecular Genetics; vol. 3, 2:223-228; 1994.
Kiyosawa, H., et al.; Primate origin of the CMT1A-REP repeat and analysis of a putative transposon-associated recombinational hotspot; Human Molecular Genetics; vol. 5; 6:745-753; 1996.
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Vandenberghe, A., et al.; Molecular diagnosis of Charcot-Marie-Tooth 1A disease and hereditary neuropathy with liability to pressure palsies by quantifying CMT1A-REP sequences: consequences of recombinations at variant sites on chromosome 17p11.2-12; Clinical Chemistry; 42:7 1021-1025; 1996.
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