Large scale genotyping of diseases and a diagnostic test for spi

Details Large scale genotyping of diseases and a diagnostic test for spi Large scale genotyping of diseases and a diagnostic test for spi

1997-01-07

1998-12-29

Jones, W. Gary

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 536 2433, 935 8, 935 77, 935 78, C12Q 168, C12P 1934, C07H 2104

Patent

active

058539956

ABSTRACT:
The present invention provides a method of screening individuals at risk for developing diseases caused by trinucleotide repeat sequence instability. Specifically, the present invention is drawn to screening individuals at risk for developing autosomal dominant spinocerebellar ataxia type 6 by determining the length of a CAG trinucleotide repeat in the .alpha..sub.1A calcium channel gene of the individual. In addition, there is provided a method of identifying genes which are disease-causing due to trinucleotide repeat sequence instability by large scale genotyping.

REFERENCES:
Margolis et al. Hum. Mol. Genet. 5:607-616, May 1996.
Riggins et al Nature Genetics 2:186-191, Nov. 1992.
Chung et al Nature Genetics 5:254-258, Nov. 1993.
Sanpei et al Nature Genetics 14:277-284, Nov. 1996.

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