Allelic discrimination has previously been used to genotype frame shift and point mutations, and small insertions or deletions six base pairs in length, but not large deletions.
Mutation analysis using λ phage-based cII and lacI/lacZ-assays is limited to non-transcribed sequences and detection of base mutations and small insertions/deletions.
We monitored the effects of various mutations and small deficiencies on TPE in flies heterozygous for the 39C-5 insert by visually scoring the amount of pigment.
While deviations from the expected sequence are observed they are restricted to point mutations and small indels which can be attributed to the fidelity of the polymerases used for the PCR amplification.
In this study, we determined by high-throughput resequencing and array comparative genomic hybridization (CGH) that point mutations and small deletions in chromosome 5q31.2 genes are not common events in de novo MDS.
When studying paternal mutations, cII and lacI/lacZ are suitable targets since paternal mutations most often are base mutations and small insertions/deletions. Furthermore these genes are non-transcribed and during spermatogenesis transcription ceases for a number of genes.
In humans, roughly 40% of cases of T-cell acute lymphoblastic leukemia (T-ALL) harbor acquired mutations involving the NRR of Notch1 that take the form of point mutations and small in-frame insertions and deletions (see [20] for a recent review).
The At4g17000 gene has experienced mutations and small deletions, resulting in early stop codons.
The vast majority of mutations described to date are point mutations and small insertions and deletions.
Point mutations and small in-frame deletions of SKI have been shown to cause Shprintzen Goldberg syndrome (OMIM# 182212).
