发明名称 |
MOLECULAR DIAGNOSTICS FOR GALACTOSEMIA |
摘要 |
A process for detecting mutations in the gene responsible for galactosemia, galactose-1-phosphate uridyl transferase (GALT), is described. In one embodiment, the process can be used to detect over 85% of the mutations known to cause galactosemia in the United States population by using six different oligonucleotide probes, which span single-nucleotide Missense or nonsense mutations in the GALT gene. Hybridization conditions which can distinguish a single nucleotide mismatch are used to detect both the presence and zygosity of mutations in the GALT gene to aid in genetic counseling. A kit for use in detecting mutations in the GALT gene is also disclosed. |
申请公布号 |
EP1119644(A4) |
申请公布日期 |
2003.06.25 |
申请号 |
EP19990951775 |
申请日期 |
1999.10.06 |
申请人 |
EMORY UNIVERSITY |
发明人 |
ELSAS, LOUIS, J.;MURALIDHARAN, KASINATHAN |
分类号 |
C12Q1/68;(IPC1-7):C12Q1/68;C12P19/34;C07H21/04 |
主分类号 |
C12Q1/68 |
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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