Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients |
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| Authors: | Asako Nakamura Shinya Matsuura Hiroshi Tauchi Ryoji Hanada Hirofumi Ohashi Tomonobu Hasegawa Koujiro Honda Mitsuo Masuno Kiyoshi Imaizumi Katsuo Sugita Toshinori Ide K Komatsu |
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| Institution: | (1) Department of Radiation Biology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Kasumi 1-2-3, Minami-ku, Hiroshima 734-8553, Japan Tel. +81-82-257-5811; Fax +81-82-256-7101 e-mail: komatsu@ipc.hiroshima-u.ac.jp, JP;(2) Department of Cellular and Molecular Biology, Hiroshima University School of Medicine, Hiroshima, Japan, JP;(3) Saitama Children's Medical Center, Saitama, Japan, JP;(4) Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, JP;(5) Kanagawa Children's Medical Center, Yokohama, Japan, JP;(6) Department of Pediatrics, Faculty of Medicine, Chiba University, Chiba, Japan, JP |
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| Abstract: | Fanconi anemia (FA) is an autosomal recessive disorder characterized by pancytopenia, predisposition to cancers, and a diverse
variety of congenital malformations. At least eight complementation groups, A through H, have been described. Recently, the
FA-A gene (FAA) has been isolated, and a large number of distinct mutations reported in ethnically diverse FA-A patients. Here, we report
on the mutation analysis of five FA patients by single-strand conformation polymorphism. Out of five patients, at least three
were found to have mutations in the FAA gene. The first patient was a compound heterozygote with a 1-bp deletion and a single-base substitution. The second patient
had a heterozygous 2-bp deletion, which introduces a premature termination codon, and the third patient had a heterozygous
splice donor site mutation in intron 27.
Received: June 1, 1998 / Accepted: August 31, 1998 |
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| Keywords: | Fanconi anemia FAA gene Mutation Polymorphism SSCP Direct sequencing |
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