| 摘要 |
The method for diagnosing 657del5 mutation in nbsl gene comprises the isolation of DNA, the amplification of the fragments of exon 6 of nbsl gene, theelectrophoretic separation of amplification products, the staining and the visualization of the separated fragments. After amplification of the fragments of exon 6 of nbsl gene, heteroduplex fragments are generated between studied amplicons and the fragments containing 657del5 mutation in nbsl gene and lacking this mutation.
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