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. 2023 Jun 17;26(7):107171. doi: 10.1016/j.isci.2023.107171

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© 2023 The Authors

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

PMC Copyright notice

Modified SNaPshot method explaining new events at the Mwo1site

(A–C) Examples of the SNaPshot PCR product migration from symptomatic and asymptomatic individuals are shown. (B) In case of positive dupC event (REN6122000742), a 7C + C and 8C + A signals are present. With our modified protocol direct sequencing of the PCR product is feasible, which confirms the SNaPshot results. (C) A very strong 7C + A signal could be observed in some SNaPshots if Mwo1 digestion failed at one of the sites (due to a Mwo1 restriction site variants). In this instance, sequencing the PCR product could aid in the identification of potentially pathogenic (NTI6120004559) or polymorphic variants (HYP2316, NTI195).

(D and E) In one index patient with the clinics of ADTKD, a very strong 7C + A signal led to the detection of a 5bp deletion in the Mwo1 site and was confirmed by subcloning and sequencing the SNaPshot PCR product.