Identification of Novel Mutations of the CFTR Gene in a Japanese Patient with Cystic Fibrosis

Tohoku J. Exp. Med., 1999, 187 (4)

Identification of Novel Mutations of the CFTR Gene in a Japanese Patient with Cystic Fibrosis

KIMIHIRA SEKI, WATARU ABO, YOSHIKI YAMAMOTO¹ and AKIHIRO MATSUURA²
Department of Pediatrics, Aomori Central Hospital, Aomori 030-8553, ¹Laboratories for Bioengineering and Research, JCR Pharmaceuticals Co., Ltd., Kobe 651-2241, and ²Department of Pathology, School of Medicine, Sapporo Medical University, Sapporo 060-0061

Cystic fibrosis (CF) is an inheritable disorder characterized by defective epithelial chloride transport and progressive lung disease, caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. The subject of this study was an 8-year old Japanese boy, who developed typical CF symptoms including meconium ileus, pancreatic insufficiency, an elevated sweat chloride concentration and pulmonary disease. Analysis of the CFTR gene of this patient revealed compound heterozygous mutations in exon 11 (1742 delAC) and intron 9 (1525-18 GtoA) of the CFTR gene.
Key words--- cystic fibrosis; CFTR gene; hereditary disease; molecular diagnosis
© 1999 Tohoku University Medical Press

Tohoku J. Exp. Med., 1999, 187, 323-328

Address for reprints: Wataru Abo, M. D., Department of Pediatrics, Aomori Central Hospital, 2-2-1 Higashi-Tsukurimichi, Aomori 030-8553, Japan.
e-mail: abo523@jomon.ne.jp

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