カンダ　ショウイチロウ   KANDA Shoichiro   神田　祥一郎    所属   埼玉医科大学  医学部 小児科（小児科、新生児科）    職種   教授
論文種別	学術雑誌(原著)
言語種別	英語
査読の有無	査読あり
表題	Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR.
掲載誌名	正式名：Pediatric research 略　 称：Pediatr Res ISSNコード：00313998/00313998
掲載区分	国外
巻・号・頁	62(3),364-9頁
著者・共著者	Nozu Kandai, Fu Xue Jun, Nakanishi Koichi, Yoshikawa Norishige, Kaito Hiroshi, Kanda Kyoko, Krol Rafal Przybyslaw, Miyashita Ritsuko, Kamitsuji Hidekazu, Kanda Shoichiro, Hayashi Yoshiki, Satomura Kenichi, Shimizu Nobuhiko, Iijima Kazumoto, Matsuo Masafumi
発行年月	2007/09
概要	Type III Bartter syndrome (BS) is caused by mutations in the basolateral chloride channel CIC-Kb gene (CLCNKB). This report concerns a genetic analysis of five Japanese patients with type III BS. To identify the mutations, we used polymerase chain reaction (PCR) and direct sequencing. To detect large heterozygous deletion mutations of the CLCNKB gene, we conducted semiquantitative PCR amplification using capillary electrophoresis. The result was that four mutations were identified, comprising one novel 2-bp deletion mutation, an entire heterozygous deletion, and a heterozygous deletion mutation of exons 1 and 2. The nonsense mutation W610X was detected in all patients, and this mutation is likely to constitute a founder effect in Japan. Capillary electrophoresis is a new method and extremely useful for detecting large heterozygous deletions, and should be used to examine type III BS cases in whom only a heterozygous mutation has been detected by direct sequencing.
DOI	10.1203/PDR.0b013e318123fb90
PMID	17622951