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Genetic linkage analyses of Romano-Ward syndrome (RWS) in 13 Japanese families |
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| Authors: | Toshihiro Tanaka Ken-ichi Nakahara Norihiro Kato Takashi Imai Tsutomu Yamazaki Hideshi Tomita Hiroaki Shimokawa Hironobu Matsuhashi Nobuyuki Sato Motoyuki Matsui Satoshi Kihira Akihiko Shimizu Tetsuya Sano Noriyuki Haneda Masaya Kino Yasushi Miyakita Rumiko Matsuoka Ryozo Nagai Yoshio Yazaki Yusuke Nakamura |
| Institution: | (1) Department of Biochemistry, Cancer Institute, 1-37-1 Kami-Ikebukuro, Toshima-ku, 170 Tokyo, Japan;(2) The Third Department of Internal Medicine, Faculty of Medicine University of Tokyo, Tokyo, Japan;(3) Department of Clinical Medicine, Faculty of Medicine, University of Tokyo, Tokyo, Japan;(4) Department of Pediatrics, Sapporo Medical University, Sapporo, Japan;(5) Research Institute of Angiocardiology, Faculty of Medicine, Kyushu University, Fukuoka, Japan;(6) The First Department of Internal Medicine, Asahikawa Medical College, Asahikawa, Japan;(7) The First Department of Internal Medicine, Yamagata University, School of Medicine, Yamagata, Japan;(8) The Second Department of Internal Medicine, Akita University School of Medicine, Akita, Japan;(9) The Third Department of Internal Medicine, Nagasaki University, School of Medicine, Nagasaki, Japan;(10) Department of Pediatrics, Osaka University Medical School, Osaka, Japan;(11) Department of Pediatrics, Shimane Medical University, Shimane, Japan;(12) The Third Department of Internal Medicine, Osaka Medical College, Osaka, Japan;(13) The First Department of Internal Medicine, Niigata University, School of Medicine, Niigata, Japan;(14) Department of Pediatric Cardiology, The Heart Institute of Japan, Tokyo Women's Medical College, Tokyo, Japan |
| Abstract: | Romano-Ward syndrome (RWS) is an autosomal dominant disorder characterized by prolongation of the electrocardiographic QT interval, with clinical manifestations that include recurrent syncope and sudden death from ventricular arrhythmias. Presymptomatic diagnosis is difficult because of the variability in these signs among carriers, but it is important for clinical management to prevent sudden cardiac death. To find an LQT (long QT) locus in Japanese patients and to identify DNA markers useful for presymptomatic diagnosis, linkage analyses were undertaken in 13 Japanese families with RWS patients by means of two DNA markers located on 11p15.5. One of these marker loci, HRAS, was previously reported to be tightly linked to the LQT locus in another ethnic group. Our analyses of homogeneity suggest evidence for genetic heterogeneity of RWS within the Japanese population. |
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