SINGLE-BASE POLYMORPHISM LINKED TO THE ATAXIA-TELANGIECTASIA LOCUS IS DETECTED BY MISMATCH PCR

被引:4
作者
ATHMA, P
FIDAHUSEIN, N
SWIFT, M
机构
[1] Division of Human Molecular Genetics, Department of Pediatrics, New York Medical College, Valhalla, NY
关键词
D O I
10.1006/bbrc.1995.1753
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
A polymorphic site at D11S384, which shows zero recombination with the ataxia-telangiectasia (A-T) locus, was originally detected by Mutation Detection Enhancement Gel and Denaturing Gradient Gel Electrophoresis. In order to increase the throughput and decrease the complexity of the assays, we developed a site directed mutagenesis using primers with mismatched 3'ends, followed by restriction digestion, as a rapid, nonradioactive method for detecting polymorphisms/mutations. (C) 1995 Academic Press, Inc.
引用
收藏
页码:982 / 986
页数:5
相关论文
共 12 条
  • [1] ATHMA P, 1995, CLIN CHEM, V41, P1
  • [2] FOROUD T, 1991, AM J HUM GENET, V49, P1263
  • [3] GATTI RA, 1988, NATURE, V336, P557
  • [4] DNA MARKER D11S384 SHOWS ZERO RECOMBINATION WITH THE ATAXIA-TELANGIECTASIA LOCUS IN NORTH-AMERICAN FAMILIES
    LENCH, NJ
    ATHMA, P
    OTTAIANO, A
    SRIBNEY, WM
    HIGHSMITH, E
    SWIFT, M
    [J]. INTERNATIONAL JOURNAL OF RADIATION BIOLOGY, 1994, 66 (06) : S67 - S69
  • [5] SIMPLE AND RAPID DETECTION OF PHENYLKETONURIA MUTATION TIGHTLY LINKED TO HAPLOTYPE-2 BY MODIFIED POLYMERASE CHAIN-REACTION
    MATSUBARA, Y
    NARISAWA, K
    TADA, K
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (05) : 775 - 779
  • [6] MCCONVILLE CM, 1993, HUM MOL GENET, V2, P969
  • [7] PCR-BASED SITE-DIRECTED MUTAGENESIS USING PRIMERS WITH MISMATCHED 3'-ENDS
    NASSAL, M
    RIEGER, A
    [J]. NUCLEIC ACIDS RESEARCH, 1990, 18 (10) : 3077 - 3078
  • [8] A YAC CONTIG SPANNING THE ATAXIA-TELANGIECTASIA LOCUS (GROUP-A AND GROUP-C) AT 11Q22-Q23
    ROTMAN, G
    SAVITSKY, K
    ZIV, Y
    COLE, CG
    HIGGINS, MJ
    BARAM, I
    DUNHAM, I
    BARSHIRA, A
    VANAGAITE, L
    QIN, SZ
    ZANG, JL
    NOWAK, NJ
    CHANDRASEKHARAPPA, SC
    LEHRACH, H
    AVIVI, L
    SHOWS, TB
    COLLINS, FS
    BENTLEY, DR
    SHILOH, Y
    [J]. GENOMICS, 1994, 24 (02) : 234 - 242
  • [9] SEDGWICK RP, 1991, HEREDITARY NEUROPATH, P47
  • [10] A NOVEL METHOD FOR DETECTING POINT MUTATIONS OR POLYMORPHISMS AND ITS APPLICATION TO POPULATION SCREENING FOR CARRIERS OF PHENYLKETONURIA
    SOMMER, SS
    CASSADY, JD
    SOBELL, JL
    BOTTEMA, CDK
    [J]. MAYO CLINIC PROCEEDINGS, 1989, 64 (11) : 1361 - 1372