Wang Junling, Zhang Shen, Xu Qian, Li Xiaohui, Song Xingwang, Jiang Hong, Shen Lu, Yan Xinxiang, Pan Qian, Xia Kun, Tang Beisha
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Oct;25(5):511-4.
To study the normal range of (CTA/CTG)n repeats of ATXN8OS gene in Chinese Hans, and the frequency of ATXN8OS (CTA/CTG)n repeat expansion in spinocerebellar ataxia(SCA) patients in Mainland China.
The (CTA/CTG)n repeats of ATXN8OS gene were detected using fluorescence-PCR, 8% denaturing polyacrylamide gel and capillary electrophoresis technique in 132 SCA patients in whom CAG expansion at the SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, SCA17 and dentatorubral-pallidoluysian atrophy(DRPLA) loci has been excluded, and 261 healthy controls.
There were no obvious abnormal changes of the (CTA/CTG)n repeats of ATXN8OS gene in the 132 SCA patients. Thirty-five SCA patients were homozygotes (26.5%), and the range of CTA/CTG repeat number was 17 to 47 (24.20+/-4.57), among which 18 repeats appeared most frequently. In 261 normal controls, 70 were homozygotes (26.8%), and the range of the CTA/CTG repeat number was from 12 to 43 (24.04+/-4.53), among which 18 repeats was the most frequent.
SCA8 is a rare subtype of SCA in Mainland China. The low prevalence of SCA8 seems to be correlated with the low frequency of large (CTA/CTG)n copy number alleles in Chinese population.
研究中国汉族人群中ATXN8OS基因(CTA/CTG)n重复序列的正常范围，以及中国大陆脊髓小脑共济失调(SCA)患者中ATXN8OS(CTA/CTG)n重复序列扩增的频率。
采用荧光PCR、8%变性聚丙烯酰胺凝胶和毛细管电泳技术，检测132例已排除SCA1、SCA2、SCA3、SCA6、SCA7、SCA12、SCA17位点CAG扩增及齿状核红核苍白球路易体萎缩(DRPLA)的SCA患者和261例健康对照者的ATXN8OS基因(CTA/CTG)n重复序列。
132例SCA患者的ATXN8OS基因(CTA/CTG)n重复序列无明显异常变化。35例SCA患者为纯合子(26.5%)，CTA/CTG重复次数范围为1747次(24.20±4.57)，其中18次重复出现频率最高。261例正常对照者中，70例为纯合子(26.8%)，CTA/CTG重复次数范围为1243次(24.04±4.53)，其中18次重复出现频率最高。
SCA8是中国大陆SCA的罕见亚型。SCA8的低患病率似乎与中国人群中(CTA/CTG)n拷贝数大等位基因的低频率有关。
