The fifth allele of the human deoxyribonuclease I (DNase I) polymorphism

Electrophoresis
Reiko IidaK Kishi

Abstract

The fifth allele, DNASE1*5, of human deoxyribonuclease I (DNase I) has been discovered. Polymerase chain reaction fragments containing exon 5 of the DNase I gene were screened for DNA polymorphism using single-strand conformation polymorphism (SSCP) analysis. DNAs from 114 unrelated Japanese and 81 German individuals were tested and a new variant was detected. By DNA sequencing analysis, this variant was found to be caused by a heterozygous G-A transition at nucleotide position 1227 that results in a Val to Met substitution at amino acid position 92 of the mature enzyme. The nucleotide substitution was also confirmed by mismatched polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis. Genotyping of the variant could be carried out by three independent reactions based on PCR amplification, and phenotyping by isoelectric focusing followed by immunostaining. The results supported the presence of the fifth codominant allele, DNASE1*5, which generates a new isozyme.

References

Feb 1, 1989·Human Genetics·K KishiK Mizuta
Apr 1, 1995·Annals of Human Genetics·T YasudaK Kishi
Aug 11, 1993·Nucleic Acids Research·Q Q Cai, I Touitou

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Citations

Jun 19, 2001·Biochimica Et Biophysica Acta·S MoriK Kishi
Aug 26, 2003·Legal Medicine·K KishiH Takeshita
Dec 22, 1999·The International Journal of Biochemistry & Cell Biology·Y NakashimaK Kishi
Dec 6, 2008·Clinical Chemistry and Laboratory Medicine : CCLM·Haruo TakeshitaJunko Fujihara
Jul 16, 2020·Biomolecules·Lucia LaukováPeter Celec

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