Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients

Asako Nakamura, Shinya Matsuura, Hiroshi Tauchi, Ryoji Hanada, Hirofumi Ohashi, Tomonobu Hasegawa, Koujiro Honda, Mitsuo Masuno, Kiyoshi Imaizumi, Katsuo Sugita, Toshinori Ide, Kenshi Komatsu

研究成果: Article査読

12 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)48-51
ページ数4
ジャーナルJournal of Human Genetics
44
1
DOI
出版ステータスPublished - 1999

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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