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Using short interfering RNA, the authors managed to decrease the RNA level of a mutant KCNH2 (hERG) allele (c.
Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome," The EMBO Journal, vol.
Fukuda, "The generation of induced pluripotent stem cells from a patient with KCNH2 G603D, without LQT2 disease associated symptom," Journal of Medical and Dental Sciences, vol.
Six exons had low coverage in all samples examined by all methods [APOB (apolipoprotein B) exon 1, KCNH2 exon 13, KCNQ1 (potassium voltage-gated channel, KQT-like subfamily, member 1) exon 1, RYR1 (ryanodine receptor 1 [skeletal]) exon 90, SCN5A (sodium channel, voltage-gated, type V, [alpha] subunit) exon 1, TGFBR1 (transforming growth factor, [beta] receptor 1) exon 1].
Here we describe a rapid single-strand conformation polymorphism-heteroduplex (SSCP-HD) analysis method for screening for mutations in all coding regions of the KCNH2 and KCNE2 genes, and identify 11 KCNH2 mutations, 6 of which were novel, and several polymorphisms in 40 families with LQTS.
Intronic PCR primer sequences were designed for robust amplification of the KCNH2 and KCNE1 exons, without nesting or additives (19, 20), under identical thermocycling conditions.
Forty probands were screened for KCNH2 and KCNE2 mutations using SSCP-HD analysis.