null mutation


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Related to null mutation: frameshift mutation

null mutation

1. A change in DNA or RNA that does not result in any change in the protein product or content of a cell.
2. A change in a nucleotide that results in the complete failure of protein synthesis by a cell.
See also: mutation

null mutation

A mutation that eliminates the function of the affected gene. In many cases the null mutation is a complete deletion of the gene.
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We carefully selected heterozygote FH patients on the basis of a null mutation to avoid confounding biases of having residual LDLR activity that may be present in other mutations of the LDLR gene.
Significant association was found between the endometriosis and GSTM1 null mutation with an odds ratio of 2.
Factor V null mutation affecting the Roche LightCycler factor V Leiden assay [Technical Brief] Clin Chem 2005;51:1533-5.
A novel factor V null mutation at Arg 506 causes a false positive factor V Leiden result.
This analysis showed that the relative risk of PCVD in patients with a null mutation was ~3.
The association between null mutations in the filaggrin gene and contact sensitization to nickel and other chemicals in the general population.