GENETIC-HETEROGENEITY IN ACATALASEMIA

203 bp long products containing exon 4 and its juntions from the catal ase gene were generated by polymerase chain reaction (PCR). These prod ucts were analyzed by single strand conformational polymorphism (SSCP) , heteroduplex formation and nucleotide sequencing, No polymorphism wa s detected when the Hungarian acatalasemic sisters, their family membe rs and normocatalasemic controls were analyzed. Sequence analyses did not show the G to A point mutation at position 5 of intron 4. This spl icing mutation characterizes the Japanese-type of acatalasemia.