Direct haplotype detection of adjacent polymorphic sites in the regulatory region of the dopamine D4 receptor (DRD4) gene

被引:0
作者
Ronai, Z
Guttman, A [1 ]
Nemoda, Z
Gervai, J
Sasvari-Szekely, M
机构
[1] Torrey Mesa Res Inst, La Jolla, CA 92121 USA
[2] Semmelweis Univ, Inst Med Chem Mol Biol & Pathobiochem, Budapest, Hungary
[3] Hungarian Acad Sci, Social Dev Grp, Inst Psychol, Budapest, Hungary
关键词
dopamine D4 receptor gene; genotyping; haplotype; promoter; single-nucleotide polymorphism;
D O I
10.1002/1522-2683(200205)23:10<1512::AID-ELPS1512>3.0.CO;2-B
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
A novel method of haplotype identification is discussed allowing simultaneous detection of two adjacent polymorphic sites, a single nucleotide polymorphism (SNP) and a length polymorphism within 1-2 kilobase distance. The method combines allele specific-amplification with high-throughput, automated ultrathin-layer gel electrophoresis analysis of fragment size polymorphism. A typical application is shown for genotyping the -521 C/T single nucleotide polymorphism and the 120 bp duplication in the 5"-upstream region of the dopamine D4 receptor (DRD4) gene. We have also demonstrated that the haplotypes of double heterozygotes for -521 C/T and for the 120 bp duplication can be clearly distinguished, that has only been possible previously by extensive pedigree analysis.
引用
收藏
页码:1512 / 1516
页数:5
相关论文
共 34 条
[31]  
2-F
[32]   Dopamine genes and ADHD [J].
Swanson, JM ;
Flodman, P ;
Kennedy, S ;
Spence, MA ;
Moyzis, R ;
Schuck, S ;
Murias, M ;
Moriarity, J ;
Barr, C ;
Smith, M ;
Posner, M .
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS, 2000, 24 (01) :21-25
[33]  
VANTOL HHM, 1992, NATURE, V358, P149
[34]   ALLELE-SPECIFIC ENZYMATIC AMPLIFICATION OF BETA-GLOBIN GENOMIC DNA FOR DIAGNOSIS OF SICKLE-CELL ANEMIA [J].
WU, DY ;
UGOZZOLI, L ;
PAL, BK ;
WALLACE, RB .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (08) :2757-2760