学术探索
学术期刊
新闻热点
数据分析
智能评审

MUTATIONAL ANALYSIS OF CANDIDATE GENES IN PSYCHIATRIC-DISORDERS

被引：11
作者：
GEJMAN, PV [1 ]
GELERNTER, J [1 ]
机构：
[1] YALE UNIV, SCH MED,W HAVEN VET ADM MED CTR,DEPT PSYCHIAT, DIV MOLEC PSYCHIAT, West Haven, CT 06516 USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 48卷 / 04期
关键词：
DENATURING GRADIENT GEL ELECTROPHORESIS; SINGLE STRANDED CONFORMATIONAL POLYMORPHISMS; CHEMICAL CLEAVAGE; ASSOCIATION;
D O I：
10.1002/ajmg.1320480404
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A genetic hypothesis for a disease presupposes the existence of variation in the DNA sequences of affected individuals. A series of techniques known together as ''mutational analysis'' can be applied towards identifying new sequence variations in selected genes. These techniques can screen a large series of individuals for mutations efficiently, so it is not necessary to determine the nucleotide sequence in every DNA sample. DNA samples suspected of harboring sequence variants are then sequenced. Denaturing gradient gel electrophoresis techniques, single stranded conformation polymorphism paradigms, and chemical cleavage of mismatches are 3 procedures widely used for the molecular screening of mutations today. We discuss each of these techniques for mutation screening. (C) 1993 Wiley-Liss, Inc.
引用
收藏
页码：184 / 191
页数：8
相关论文
共 60 条
[1]  
AKLI S, 1990, J BIOL CHEM, V265, P7324
[2]   DETECTION OF MUTATIONS IN INSULIN-RECEPTOR GENE BY DENATURING GRADIENT GEL-ELECTROPHORESIS [J].
BARBETTI, F ;
GEJMAN, PV ;
TAYLOR, SI ;
RABEN, N ;
CAMA, A ;
BONORA, E ;
PIZZO, P ;
MOGHETTI, P ;
MUGGEO, M ;
ROTH, J .
DIABETES, 1992, 41 (04) :408-415
[3]   EQUILIBRIUM MELTING OF PLASMID COLEL-DNA - ELECTRON-MICROSCOPIC VISUALIZATION [J].
BOROVIK, AS ;
KALAMBET, YA ;
LYUBCHENKO, YL ;
SHITOV, VT ;
GOLOVANOV, EI .
NUCLEIC ACIDS RESEARCH, 1980, 8 (18) :4165-4184
[4]   PULSED FIELD SEQUENCING GEL-ELECTROPHORESIS [J].
BRASSARD, E ;
TURMEL, C ;
NOOLANDI, J .
ELECTROPHORESIS, 1992, 13 (08) :529-535
[5]   FIDELITY OF THERMOCOCCUS-LITORALIS DNA-POLYMERASE (VENT) IN PCR DETERMINED BY DENATURING GRADIENT GEL-ELECTROPHORESIS [J].
CARIELLO, NF ;
SWENBERG, JA ;
SKOPEK, TR .
NUCLEIC ACIDS RESEARCH, 1991, 19 (15) :4193-4198
[6]   CHEMICAL-REACTIVITY OF MATCHED CYTOSINE AND THYMINE BASES NEAR MISMATCHED AND UNMATCHED BASES IN A HETERODUPLEX BETWEEN DNA STRANDS WITH MULTIPLE DIFFERENCES [J].
COTTON, RGH ;
CAMPBELL, RD .
NUCLEIC ACIDS RESEARCH, 1989, 17 (11) :4223-4233
[7]   MUTATION DETECTION [J].
COTTON, RGH ;
MALCOLM, ADB .
NATURE, 1991, 353 (6344) :582-583
[8]  
DELCOURT SG, 1991, J BIOL CHEM, V266, P15160
[9]   HAPLOTYPE RELATIVE RISKS - AN EASY RELIABLE WAY TO CONSTRUCT A PROPER CONTROL SAMPLE FOR RISK CALCULATIONS [J].
FALK, CT ;
RUBINSTEIN, P .
ANNALS OF HUMAN GENETICS, 1987, 51 :227-233
[10]   LENGTH-INDEPENDENT SEPARATION OF DNA RESTRICTION FRAGMENTS IN 2-DIMENSIONAL GEL-ELECTROPHORESIS [J].
FISCHER, SG ;
LERMAN, LS .
CELL, 1979, 16 (01) :191-200
123456