发明名称 |
Gene sequence for spinocerebellar ataxia type 1 and method for diagnosis |
摘要 |
The present invention provides an isolated DNA sequence of the short arm of chromosome 6 which is located within the autosomal dominant spinocerebellar ataxia type 1 gene. This isolated DNA sequence is preferably located within a 3.36 kb EcoRI fragment, i.e., an EcoRI fragment containing about 3360 base pairs, of the SCA1 gene. The isolated sequence preferably contains a CAG repeat region. The number of CAG trinucleotide repeats (n) is</=36, preferably n=19-36, for normal individuals. For an affected individual n>36, preferably n>/=43.
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申请公布号 |
US5741645(A) |
申请公布日期 |
1998.04.21 |
申请号 |
US19950469802 |
申请日期 |
1995.06.06 |
申请人 |
REGENTS OF THE UNIVERSITY OF MINNESOTA |
发明人 |
ORR, HARRY T.;RANUM, LAURA P. W.;CHUNG, MING-YI;ZOGHBI, HUDA Y. |
分类号 |
C07K14/47;C07K16/18;C12Q1/68;G01N33/68;(IPC1-7):C12Q1/68;C12P19/34;C07H21/04 |
主分类号 |
C07K14/47 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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