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Hum Genet. 1992 Mar;88(5):487-90.

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

Author information

1
Oncogene Division, National Cancer Center Research Institute, Tokyo, Japan.

Abstract

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.

PMID:
1551654
DOI:
10.1007/bf00219333
[Indexed for MEDLINE]

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