MUTATION DETECTION IN LEBER HEREDITARY OPTIC NEUROPATHY BY PCR WITH ALLELE-SPECIFIC PRIMING

被引：19

作者：

NORBY, S

LESTIENNE, P

NELSON, I

ROSENBERG, T

机构：

[1] NATL CLIN VISUALLY IMPAIRED,DK-2900 HELLERUP,DENMARK

[2] CTR HOSP REG UNIV ANGERS,INSERM,U298,F-49033 ANGERS,FRANCE

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1991年 / 175卷 / 02期

关键词：

D O I：

10.1016/0006-291X(91)91612-G

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

An assay was designed that allows detection, by PCR alone, of the mutation of base pair no. 11,778 in human mitochondrial DNA, causing Leber's hereditary optic neuropathy. This was obtained by using a 20-mer primer with the mutation-specific base in the 3′-position, plus a deliberately introduced C C-mismatch at base no. four from the 3′-end. The latter mismatch was necessary, and sufficient, to prevent amplification of the normal allele. © 1991.

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页码：631 / 636

页数：6

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