STRAND-SEPARATING CONFORMATIONAL POLYMORPHISM ANALYSIS - EFFICACY OF DETECTION OF POINT MUTATIONS IN THE HUMAN ORNITHINE DELTA-AMINOTRANSFERASE GENE

被引：121

作者：

MICHAUD, J

BRODY, LC

STEEL, G

FONTAINE, G

MARTIN, LS

VALLE, D

MITCHELL, G

机构：

[1] HOP ST JUSTINE,CANADIAN NETWORK CTR EXCELLENCE HUMAN GENET,CTR RECH,MONTREAL H3T 1C5,QUEBEC,CANADA

[2] JOHNS HOPKINS UNIV,SCH MED,HOWARD HUGHES MED INST,GENET LAB,BALTIMORE,MD 21205

[3] JOHNS HOPKINS UNIV,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21205

来源：

GENOMICS | 1992年 / 13卷 / 02期

关键词：

D O I：

10.1016/0888-7543(92)90258-T

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

We tested the use of a modified method of single-strand conformational polymorphism (SSCP) analysis for the detection of point mutations in the human ornithine-δ-aminotransferase gene. Using a combination of three different electrophoretic conditions, we detected 20 20 known mutations. In a prospective study of 24 previously uncharacterized mutant OAT genes, we found 13 different mutations accounting for 19 (79% of the 24. We conclude that SSCP is an efficient technique with high sensitivity and specificity. © 1992.

引用

收藏

页码：389 / 394

页数：6

相关论文

共 22 条

[1] DIAGNOSTIC SINGLE-STRAND CONFORMATIONAL POLYMORPHISM, (SSCP) - A SIMPLIFIED NONRADIOISOTOPIC METHOD AS APPLIED TO A TAY-SACHS-B1 VARIANT [J].

AINSWORTH, PJ ;

SURH, LC ;

COULTERMACKIE, MB .

NUCLEIC ACIDS RESEARCH, 1991, 19 (02) :405-406

[2]

BRODY LC, 1992, J BIOL CHEM, V267, P3302

[3] A MAJOR SEGMENT OF THE NEUROFIBROMATOSIS TYPE-1 GENE - CDNA SEQUENCE, GENOMIC STRUCTURE, AND POINT MUTATIONS [J].

CAWTHON, RM ;

WEISS, R ;

XU, GF ;

VISKOCHIL, D ;

CULVER, M ;

STEVENS, J ;

ROBERTSON, M ;

DUNN, D ;

GESTELAND, R ;

OCONNELL, P ;

WHITE, R .

CELL, 1990, 62 (01) :193-201

[4] 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

[5] MULTIPLE MUTATIONS IN HIGHLY CONSERVED RESIDUES ARE FOUND IN MILDLY AFFECTED CYSTIC-FIBROSIS PATIENTS [J].

DEAN, M ;

WHITE, MB ;

AMOS, J ;

GERRARD, B ;

STEWART, C ;

KHAW, KT ;

LEPPERT, M .

CELL, 1990, 61 (05) :863-870

[6] MARFAN-SYNDROME CAUSED BY A RECURRENT DENOVO MISSENSE MUTATION IN THE FIBRILLIN GENE [J].

DIETZ, HC ;

CUTTING, GR ;

PYERITZ, RE ;

MASLEN, CL ;

SAKAI, LY ;

CORSON, GM ;

PUFFENBERGER, EG ;

HAMOSH, A ;

NANTHAKUMAR, EJ ;

CURRISTIN, SM ;

STETTEN, G ;

MEYERS, DA ;

FRANCOMANO, CA .

NATURE, 1991, 352 (6333) :337-339

[7]

GELFAND DH, 1989, CURRENT COMMUNICATIO, P11

[8] MULTIPLEX DNA DELETION DETECTION AND EXON SEQUENCING OF THE HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE GENE IN LESCH-NYHAN FAMILIES [J].

GIBBS, RA ;

NGUYEN, PN ;

EDWARDS, A ;

CIVITELLO, AB ;

CASKEY, CT .

GENOMICS, 1990, 7 (02) :235-244

[9]

Hayashi K, 1991, PCR Methods Appl, V1, P34

[10] ANALYSIS OF HUMAN Y-CHROMOSOME-SPECIFIC REITERATED DNA IN CHROMOSOME VARIANTS [J].

KUNKEL, LM ;

SMITH, KD ;

BOYER, SH ;

BORGAONKAR, DS ;

WACHTEL, SS ;

MILLER, OJ ;

BREG, WR ;

JONES, HW ;

RARY, JM .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1977, 74 (03) :1245-1249