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  • Title: [Gene diagnosis and CAG repeat analysis of spinocerebellar ataxia cases of Guangxi region].
    Author: Tan JQ, Wang P, Hu QP, Li SF, Shu W, Ma J, Fang L, Hua R, Ding Y, Yuan ZG.
    Journal: Yi Chuan; 2009 Jun; 31(6):605-10. PubMed ID: 19586860.
    Abstract:
    To characterize the distributions and subtypes of the spinocerebellar ataxias (SCA) in Guangxi region, the SCAl, SCA2, SCA3/MJD, SCA6, SCA7 and SCA12 (CAG)n mutations were analyzed by polymerase chain reaction (PCR) and capillary electrophoresis (CE). The SCA3/MJD mutation was detected in a total of 21 SCA patients and 19 presymptomatic individuals from 6 SCA families and their CAG repeat numbers were 59-70 and 60-73, respectively. No (CAG)n mutations of SCA1, SCA2, SCA6, SCA7 and SCA12 were detected. This study showed that SCA in Guangxi region is mostly SCA3/MJD subtype and the CAG repeats are smaller than those reported in other regions previously.
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