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Genetic heterogeneity in acatalasemia
1Department of Clinical Chemistry, Medical School, University of Debrecen, Hungary. goth@kki.dote.hu
Electrophoresis
|August 1, 1996
Abstract:
203 bp long products containing exon 4 and its junctions from the catalase gene were generated by polymerase chain reaction (PCR). These products were analyzed by single strand conformational polymorphism (SSCP), hetero-duplex formation and nucleotide sequencing. No polymorphism was detected when the Hungarian acatalasemic sisters, their family members and normocatalasemic controls were analyzed. Sequence analyses did not show the G to A point mutation at position 5 of intron 4. This splicing mutation characterizes the Japanese-type of acatalasemia.