THE MOLECULAR-BASIS FOR GENETIC-POLYMORPHISM OF HUMAN DEOXYRIBONUCLEASE-I - IDENTIFICATION OF THE NUCLEOTIDE SUBSTITUTION THAT GENERATES THE 4TH ALLELE
T. Yasuda et al., THE MOLECULAR-BASIS FOR GENETIC-POLYMORPHISM OF HUMAN DEOXYRIBONUCLEASE-I - IDENTIFICATION OF THE NUCLEOTIDE SUBSTITUTION THAT GENERATES THE 4TH ALLELE, FEBS letters, 359(2-3), 1995, pp. 211-214
In addition to the three alleles commonly responsible for the protein
polymorphism of human deoxyribonuclease I, a mutation encoded by a fou
rth allele, DNASE14, was detected by isoelectric focusing. All 8 exon
s covering the entire open reading frame of the human DNase I gene wer
e amplified by the polymerase chain reaction and subjected to direct s
equencing. Only one nucleotide substitution, a C-to-G transition (CAG-
-> GAG), in the codon for amino acid 9 of the mature enzyme was found.
This substitution resulted in the replacement of Gin with Glu (Q9E).