Postmortem molecular screening in unexplained sudden death
Sumeet S. Chugh, MD*,*,
Olga Senashova, BS*,
Allison Watts, MS*,
Phuoc T. Tran, MD, PhD ,
Zhengfeng Zhou, MD, PhD ,
Qiuming Gong, MD, PhD,
Jack L. Titus, MD, PhD and
Susan J. Hayflick, MD
* Division of Cardiology, Portland, OregonUSA
Division of Molecular Medicine, Portland, OregonUSA
Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon, USA
Jesse E. Edwards Registry of Cardiovascular Disease, St. Paul, Minnesota, USA
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Figure 1 Partial deoxyribonucleic acid sequence of KCNH2 exon 7 for the wild-type (A, single black peak) and mutant KCNH2 gene demonstrating the same mutation in Patient 1 (heterozygous; B, two peaks: black and green) and Patient 2 (homozygous; C, single green peak). The latter was confirmed by PCR cloning and sequencing (D, single green peak).
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Figure 2 Patch-clamp and Western blot analyses of the KCNH2 mutant A561T. (A) Representative currents recorded from HEK 293 cells transfected with wild-type (WT) KCNH2 and A561T mutant, as indicated. The KCNH2 currents were activated by depolarizing steps between –70 and 60 mV from a holding potential of –80 mV, and tail currents were recorded on repolarizations to –50 mV. (B) Western blot analysis of KCNH2 channel proteins of wild-type KCNH2 and A561T mutant. The solid and dashed arrows indicate immature and mature forms of KCNH2 protein, respectively.
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