发明名称 |
Direct molecular diagnosis of Friedreich ataxia |
摘要 |
This invention relates generally to methods for the diagnosis and therapeutic treatment of Friedreich Ataxia. Friedreich ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous system and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. The gene encodes a 210 amino acid protein, frataxin, that has homologues in distant species such as C. elegans and yeast. A few FRDA patients have been found to have point mutations in X25, but the vast majority are homozygous for a variable, unstable GAA trinucleotide expansion in the first X25 intron. Mature X25 mRNA was severely reduced in abundance in individuals with FRDA. Carriers and individuals at risk for developing FRDA can be ascertained by the methods of the present invention. Further, the methods of the present invention provide treatment to those individuals having FRDA.
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申请公布号 |
US6150091(A) |
申请公布日期 |
2000.11.21 |
申请号 |
US19960611587 |
申请日期 |
1996.03.06 |
申请人 |
BAYLOR COLLEGE OF MEDICINE;INSERM |
发明人 |
PANDOLFO, MASSIMO;MONTERMINI, LAURA;MOLTO, MARIA D.;KOENIG, MICHAEL;CAMPUZANO, VICTORIA;COSSEE, MIREILLE |
分类号 |
C12N15/09;A61K31/00;A61K38/00;A61P9/00;A61P21/00;A61P25/00;C12Q1/68;(IPC1-7):C12Q1/68;C12P19/34;C07H21/04 |
主分类号 |
C12N15/09 |
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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