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. 2017 Dec 15;7(12):656.
doi: 10.1038/s41408-017-0025-8.

ASXL1 c.1934dup;p.Gly646Trpfs*12-a true somatic alteration requiring a new approach

Costas K Yannakou  1   2 , Kate Jones  3 , Michelle McBean  3 , Ella R Thompson  3   4 , Georgina L Ryland  3 , Ken Doig  3 , John Markham  3   4 , David Westerman  3   4 , Piers Blombery  3   4
Affiliations

ASXL1 c.1934dup;p.Gly646Trpfs*12-a true somatic alteration requiring a new approach

Costas K Yannakou et al. Blood Cancer J. .
No abstract available

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1. Mutation-specific mechanism of ASXL1 c.1934dupG detection using the 9G primer
A ASXL1 c.1934dupG (9G repeat)—primer and template complementary. B Wild-type (8G repeat)—primer and template partially mismatched. Resulting PCR product amplification characteristics constitute signal
Fig. 2
Fig. 2. Amplification dynamics of the 9G and 8G primers with Kasumi-1 DNA (50% 9G repeat—ASXL1 c.1934dupGheterozygous) and with ASXL1 wild-type DNA (0% 9G repeat)
A+D 9G primers—amplify Kasumi-1 DNA more efficiently than ASXL1 wild-type DNA, greater Ct difference between DNA types due to absence of the 9G repeat within the ASXL1 wild-type DNA. B+C 8G primers—amplify ASXL1 wild-type DNA more efficiently than Kasumi-1 DNA, lesser Ct difference between DNA types due to presence of the 8G repeat within the Kasumi-1 DNA
See this image and copyright information in PMC

References

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