APPLICATION OF NATURAL AND AMPLIFICATION CREATED RESTRICTION SITES FOR THE DIAGNOSIS OF PKU MUTATIONS

被引：84

作者：

EIKEN, HG ^{[1
]}

ODLAND, E ^{[1
]}

BOMAN, H ^{[1
]}

SKJELKVALE, L ^{[1
]}

ENGEBRETSEN, LF ^{[1
]}

APOLD, J ^{[1
]}

机构：

[1] UNIV OSLO,DEPT PEDIAT RES,OSLO 3,NORWAY

来源：

NUCLEIC ACIDS RESEARCH | 1991年 / 19卷 / 07期

关键词：

D O I：

10.1093/nar/19.7.1427

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：

PCR amplification, either conventional, or as site directed mutagenesis using primers with mismatched 3'-ends, followed by restriction endonuclease digestion, provides rapid, non-isotope assays of known mutations in the human phenylalanine hydroxylase gene. Such assays were shown to have the potential to detect all of the 18 presently reported phenylketonuria mutations. The practical applicability of this approach was demonstrated for eight mutations in Norwegian phenylketonuria patients, among them the most common ones.

引用

页码：1427 / 1430

页数：4

共 21 条

[1] CPG DINUCLEOTIDES ARE MUTATION HOT SPOTS IN PHENYLKETONURIA [J].