THE MOLECULAR-BASIS FOR GENETIC-POLYMORPHISM OF HUMAN DEOXYRIBONUCLEASE-I - IDENTIFICATION OF THE NUCLEOTIDE SUBSTITUTION THAT GENERATES THE 4TH ALLELE

被引：21

作者：

YASUDA, T ^{[1
]}

NADANO, D ^{[1
]}

TAKESHITA, H ^{[1
]}

TENJO, E ^{[1
]}

SAWAZAKI, K ^{[1
]}

OOTANI, M ^{[1
]}

KISHI, K ^{[1
]}

机构：

[1] FUKUI MED SCH,DEPT LEGAL MED,FUKUI 91011,JAPAN

来源：

FEBS LETTERS | 1995年 / 359卷 / 2-3期

关键词：

DEOXYRIBONUCLEASE I; POLYMORPHISM; PCR; GENETIC VARIATION; HUMAN;

D O I：

10.1016/0014-5793(95)00037-A

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

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, DNASE1*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 Gin with Glu (Q9E).

引用

页码：211 / 214

页数：4

共 18 条

[1]

KISHI K, 1989, HUM GENET, V81, P295

[2]

KISHI K, 1990, AM J HUM GENET, V47, P121

[3] VISUALIZATION OF ANTIGENIC PROTEINS ON WESTERN BLOTS [J].