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- W3150622029 abstract "Objective To study the strategy of applying molecular genetic methods and techniques in the diagnosis of spinocerebellar ataxias (SCA). Methods This study included 43 patients with SCA from 36 families, 38 sporadic SCA patients, 60 healthy individuals from the SCA families and 44 normal controls. The trinucleotide repeats were detected by polymerase chain reaction (PCR), denaturing polyacrylamide gel electrophoresis and silver staining technique. The repeat numbers were caculated by software. Results SCA3 was the most common type in the Hans of south China, accounting for 42.0%, followed by SCA2 (7.4%), SCA1 (4.9%), SCA7 (3.7%), SCA6 (2.5%) and SCA12 (1.2%). No patient was found to have SCA8, SCA10, SCA17, and dentatorubro-pallidoluysian atrophy(DRPLA). Conclusion Molecular genetic detection is an effective way to confirmation of SCA subtype diagnosis and presymptomatic genetic diagnosis." @default.
- W3150622029 created "2021-04-13" @default.
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- W3150622029 date "2005-01-01" @default.
- W3150622029 modified "2023-09-24" @default.
- W3150622029 title "Molecular genetics and its clinical application in the diagnosis of spinocerebellar ataxias" @default.
- W3150622029 hasPublicationYear "2005" @default.
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