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Results for “frameshift mutation”

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PubMed1999

Frameshift mutation, microsatellites and mismatch repair.

The structure of eukaryotic DNA, with its repeated sequences, makes base addition and loss a major obstacle to the maintenance of genetic stability. As compared to the bacteria, much of the mismatch repair capacity of the eukaryotic cell must be devoted to the surveillance of frameshift changes. Any alteration in the activity of proteins which recognize frameshifts or which hold the DNA in place during replication is likely to result in genomic instability.

Base Pair Mismatch↗
PubMed1999

A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia.

BACKGROUND: Many mutations in PAX6, a member of a family of genes essential for normal development, have been described. We carried out a study to identify the mutation in PAX6 responsible for aniridia, an autosomal dominant disorder, in a kindred from Atlantic Canada. METHODS: Polymerase chain reaction amplification of coding exons, single-strand conformation polymorphism analysis and DNA sequencing. RESULTS: A novel deletion of an adenosine residue at position 1030 (1030delA) was detected. INTERPRETATION: The mutation responsible for aniridia in this kindred is expected to cause a frameshift in the PAX6 coding sequence and truncation of the homeodomain, which is essential for the function of the pax6 protein.

Adult↗