| Autor: |
Hantash, Feras M., Goos, Dana G., Tsao, David, Quan, Franklin, Buller-Burckle, Arlene, Peng, Mei, Jarvis, Michael, Sun, Weimin, Strom, Charles M. |
| Zdroj: |
Genetics in Medicine; March 2010, Vol. 12 Issue: 3 p162-173, 12p |
| Abstrakt: |
Fragile X syndrome is caused by expansion and subsequent methylation of a CGG trinucleotide repeat in the FMR15′-untranslated region. Southern blot analysis is typically required to determine expansion size for triplet repeat lengths >200. We describe a triplet-primed polymerase chain reaction-based method using automated capillary electrophoresis detection for qualitative assessment of expanded CGG repeats. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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