LARGE-SCALE GENOTYPING OF DISEASES AND DIAGNOSTIC TEST FOR CEREBELLAR ATAXIA OF TYPE 6 Russian patent published in 2002 - IPC

Abstract RU 2195497 C2

FIELD: medicine. SUBSTANCE: present innovation deals with the screening of the patients with the risk for disease development induced by instability of trinucleotide repeated sequence, in particular, it is performed the screening of patients with the risk for the development of autosomal dominant cerebellar ataxia of type 6 due to detecting the length of CAG-trinucleotide repeat in α1A-gene of a calcium channel in a certain patient and if a genomic DNA contains such large-sized sequences against a control these patients are considered to be referred to the risk group for the development of autosomal dominant spinal and cerebellar ataxia of type 6. The method elaborates efficient way for genotyping of genetic diseases. EFFECT: higher efficiency. 3 cl, 4 dwg, 8 ex, 2 tbl

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RU 2 195 497 C2

Authors

Li Cheng-Chi

Dates

2002-12-27Published

1998-01-07Filed