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Detection of a common mutation of the catalase gene in Japanese acatalasemic patients

✍ Scribed by Yosuke Kishimoto; Yoshinori Murakami; Kenshi Hayashi; Shigeo Takahara; Takashi Sugimura; Takao Sekiya

Publisher: Springer
Year: 1992
Tongue: English
Weight: 806 KB
Volume: 88
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00219333

No coin nor oath required. For personal study only.

✦ Synopsis

Acatalasemia was one of the earliest described genetic enzyme defects. In 1990, a causal point mutation (a splicing mutation) was first reported in a Japanese patient with acatalasemia. In the present study, the polymerase chain reaction and single-strand conformation polymorphism analysis were used to determine whether the same point mutation was present in unrelated Japanese patients. The subjects studied were the previously examined acatalasemic female, her brother, who is hypocatalasemic, and two other unrelated acatalasemic patients. A single G to A point mutation at the fifth position of intron 4, identical to that previously found, was present in all the studied patients. This finding strongly suggests that only a single mutated allele has spread in the Japanese population.

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