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

页码：389 / 394

页数：6

共 22 条

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