The molecular basis for genetic polymorphism of human deoxyribonuclease I: identification of the nucleotide substitution that generates the fourth allele

FEBS Letters

Takeshita, Haruo¹  Kishi, Koichiro¹  Sawazaki, Kazumi¹  Ootani, Masahiro¹  Tenjo, Etsuko¹  Nadano, Daita¹  Yasuda, Toshihiro¹ 

[1] Department of Legal Medicine, Fukui Medical School, Matsuoka-cho, Fukui 910-11, Japan

关键词: Deoxyribonuclease I;    Polymorphism;    PCR;    Genetic variation;    Human;    bp;    base pair;    DNase I;    deoxyribonuclease I;    IEFPAGE;    isoelectric focusing in a thin layer of polyacrylamide gel;    PCR;    polymerase chain reaction;   

DOI  :  10.1016/0014-5793(95)00037-A

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

In addition to the three alleles commonly responsible for the protein polymorphism of human deoxyribonuclease I, a mutation encoded by a fourth allele, DNASEI*4, was detected by isoelectric focusing. All 8 exons covering the entire open reading frame of the human DNase I gene were amplified by the polymerase chain reaction and subjected to direct sequencing. 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 Gln with Glu (Q9E).

【 授权许可】

Unknown