Thr297Ile) Cytogenetic Patient Effect result FA82 Frameshift mutation
(pathogenic) Positive FA121 Frameshift mutation
(pathogenic) Positive FA189 Polymorphism (non-pathogenic) Positive FA199 Frameshift mutation
(pathogenic) Not done FA312 No variation observed Not done FA402 No variation observed Unsuccessful FA465 Splice donor site mutation (pathogenic) Polymorphism (non-pathogenic) Not done Polymorphism (non-pathogenic) FA = Fanconi anaemia.
Somatic frameshift mutations
in the BAX gene in colon cancers of the microsatellite mutator phenotype.
53) Frameshift mutations
PAH-DNA adducts Nondetectable 2/293 1.
These results demonstrate that the "second-generation" structural analogues, idarubicin and epirubicin, also induced frameshift mutations
in this assay.
These results confirmed earlier reports, which demonstrated that adriamycin induced frameshift mutations
in the traditional Salmonella Mutagenicity Assay (i.
Specifically, frameshift mutations
(TA98) were induced 44.
However, length variations in coding microsatellites (cMS) that produce frameshift mutations
inevitably lead to truncated proteins if the respective gene is expressed.
These mutations are mainly base substitutions, leading to stop codons and truncation of proteins, or frameshift mutations
The HFE coding region from some of these HC probands has been studied, and nine novel mutations have been described: four missense mutations (S65C, I105T, G93R, and R330M) (18-20), two frameshift mutations
(V68de1T and P160de1C) (21,22), two nonsense mutations (E168X and W169X) (23), and one splice site mutation (IVS3+IG [right arrow] T) (24).
within KIT exon 11 produced PCR products with altered sizes, which were readily distinguished from wild-type KIT by CE (Fig.
16), it was concluded that the GeneChip does not detect frameshift mutations
(from insertions or deletions in the p53 gene).
The chips did not detect any of the five frameshift mutations
present in this study.