发明名称 |
GENE SEQUENCE FOR SPINOCEREBELLAR ATAXIA TYPE 1 AND METHOD FOR DIAGNOSIS |
摘要 |
The present invention provides an isolated DNA molecule of the autosomal dominant spinocerebellar ataxia type 1 gene, which is located within the short arm of chromosome 6. This isolated DNA molecule 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 sequences contain 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. |
申请公布号 |
WO9501437(A2) |
申请公布日期 |
1995.01.12 |
申请号 |
WO1994US07336 |
申请日期 |
1994.06.29 |
申请人 |
REGENTS OF THE UNIVERSITY OF MINNESOTA |
发明人 |
ORR, HARRY, T.;CHUNG, MING-YI;ZOGHBI, HUDA, Y. |
分类号 |
G01N33/566;C07H21/04;C07K14/47;C07K16/18;C12N15/09;C12N15/12;C12P21/02;C12Q1/68;C12R1/91;G01N33/68 |
主分类号 |
G01N33/566 |
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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