Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection

被引：276

作者：

O'Donovan, MC

Oefner, PJ

Roberts, SC

Austin, J

Hoogendoorn, B

Guy, C

Speight, G

Upadhyaya, M

Sommer, SS

McGuffin, P

机构：

[1] Univ Coll N Wales, Coll Med, Dept Psychol Med, Div Psychol Med, Cardiff CF4 4XN, S Glam, Wales

[2] Univ Coll N Wales, Coll Med, Div Med Genet, Cardiff CF4 4XN, S Glam, Wales

[3] Stanford Univ, Dept Genet, Stanford, CA 94305 USA

[4] Dept Mol Genet & Mol Diag, Duarte, CA 91010 USA

来源：

GENOMICS | 1998年 / 52卷 / 01期

关键词：

D O I：

10.1006/geno.1998.5411

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：

Denaturing high-performance liquid chromatography (DHPLC) is a novel high-capacity technique for detecting new mutations. We have evaluated the sensitivity and specificity of this method in a blind analysis of exon H of the factor IX gene and exon 16 of the neurofibromatosis type 1 gene. Under a single set of conditions for each exon, 55/55 individuals carrying 48 unique mutations were correctly identified as were 55/55 individuals with wildtype alleles. We conclude that DHPLC is a highly sensitive and specific method for mutation detection. (C) 1998 Academic Press.

引用

页码：44 / 49

页数：6

共 23 条

[1] Slowly but surely towards better scanning for mutations [J].