发明名称 |
Disease specific ASO-probes for the detection of alpha- and beta-thalassemia mutations |
摘要 |
<p>Oligo-probes were designed for the detection of in total 66 beta- and 42 alpha-thalassemia mutations. Oligo-probes were designed as 20- or 21-mers for which the SNP-position was located in the middle of the probe (position 0). Subsequent probes were defined shifted respectively 1 to 5 nucleotides to the left or to the right, both sense and anti-sense of wild type and mutant sequence. The total number of sense and anti-sense probes for the 66 beta-globin gene specific SNP's are 2184 and for the 42 alpha-globin gene specific SNP's 1484 probes. From these the best performing wild type and mutant probe pairs were selected. The set of oligonucleotide probes for Allele Specific Oligo hybridization (ASO-probes) described, can be employed for large scale high throughput post- and neonatal screening programs aiming at prevention of these severe recessive disorders.</p> |
申请公布号 |
EP1816215(A1) |
申请公布日期 |
2007.08.08 |
申请号 |
EP20060075210 |
申请日期 |
2006.02.01 |
申请人 |
ACADEMISCH ZIEKENHUIS LEIDEN |
发明人 |
VAN MOORSEL, CORNELIA HILLEGONDA MARIA;HARTEVELD, CORNELIS LEONARD;DEN DUNNEN, JOHANNES THEODORUS;GIORDANO, PIERO CARLO |
分类号 |
C12Q1/68 |
主分类号 |
C12Q1/68 |
代理机构 |
|
代理人 |
|
主权项 |
|
地址 |
|