A NOVEL METHOD FOR DETECTING POINT MUTATIONS OR POLYMORPHISMS AND ITS APPLICATION TO POPULATION SCREENING FOR CARRIERS OF PHENYLKETONURIA

被引:130
作者
SOMMER, SS [1 ]
CASSADY, JD [1 ]
SOBELL, JL [1 ]
BOTTEMA, CDK [1 ]
机构
[1] MAYO CLIN & MAYO FDN,DEPT HLTH SCI RES,ROCHESTER,MN 55905
关键词
D O I
10.1016/S0025-6196(12)65378-6
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1361 / 1372
页数:12
相关论文
共 32 条
[1]  
BENYOSEPH Y, 1985, AM J HUM GENET, V37, P733
[2]  
Blau K., 1979, AROMATIC AMINO ACID, P79
[3]   REDUCTION IN RATE OF DNA REASSOCIATION BY SEQUENCE DIVERGENCE [J].
BONNER, TI ;
BRENNER, DJ ;
NEUFELD, BR ;
BRITTEN, RJ .
JOURNAL OF MOLECULAR BIOLOGY, 1973, 81 (02) :123-135
[4]  
CHAKRABORTY R, 1987, HUM GENET, V76, P40
[5]   DELETION SCREENING OF THE DUCHENNE MUSCULAR-DYSTROPHY LOCUS VIA MULTIPLEX DNA AMPLIFICATION [J].
CHAMBERLAIN, JS ;
GIBBS, RA ;
RANIER, JE ;
NGUYEN, PN ;
CASKEY, CT .
NUCLEIC ACIDS RESEARCH, 1988, 16 (23) :11141-11156
[6]   REACTIVITY OF CYTOSINE AND THYMINE IN SINGLE-BASE-PAIR MISMATCHES WITH HYDROXYLAMINE AND OSMIUM-TETROXIDE AND ITS APPLICATION TO THE STUDY OF MUTATIONS [J].
COTTON, RGH ;
RODRIGUES, NR ;
CAMPBELL, RD .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (12) :4397-4401
[7]  
DILELLA AG, 1988, LANCET, V1, P497
[8]   AN AMINO-ACID SUBSTITUTION INVOLVED IN PHENYLKETONURIA IS IN LINKAGE DISEQUILIBRIUM WITH DNA HAPLOTYPE-2 [J].
DILELLA, AG ;
MARVIT, J ;
BRAYTON, K ;
WOO, SLC .
NATURE, 1987, 327 (6120) :333-336
[9]   TIGHT LINKAGE BETWEEN A SPLICING MUTATION AND A SPECIFIC DNA HAPLOTYPE IN PHENYLKETONURIA [J].
DILELLA, AG ;
MARVIT, J ;
LIDSKY, AS ;
GUTTLER, F ;
WOO, SLC .
NATURE, 1986, 322 (6082) :799-803
[10]   PARAMETERS AFFECTING THE YIELD OF DNA FROM HUMAN-BLOOD [J].
GUSTAFSON, S ;
PROPER, JA ;
BOWIE, EJW ;
SOMMER, SS .
ANALYTICAL BIOCHEMISTRY, 1987, 165 (02) :294-299