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Genetic heterogeneity in acatalasemia
Author(s) -
Góth László,
Páy Anikó
Publication year - 1996
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.1150170805
Subject(s) - heteroduplex , single strand conformation polymorphism , point mutation , intron , genetics , exon , biology , rna splicing , polymerase chain reaction , microbiology and biotechnology , primer (cosmetics) , mutation , gene , chemistry , rna , organic chemistry
203 bp long products containing exon 4 and its juntions from the catalase gene were generated by polymerase chain reaction (PCR). These products were analyzed by single strand conformational polymorphism (SSCP), heteroduplex formation and nucleotide 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.