The deletion mutation
of porcine TIAF1 gene, which was found in its exon, causes deletion of two amino acids, which might alter the protein structure and lead to functional variation such as the interaction with TGF[beta]1.
Among the 128 probands tested using mPCR, 40 (31%) deletion mutations
were identified (Table 1).
The first three non-small cell lung cancer patients with MET exon 14 deletion mutations
or MET gene amplification showed clear tumor regression as early as the first assessment and the trial continues to enroll additional patients.
We also found that assessing stability of the mutation may not be required for point and deletion mutations
that are typically stable in vivo.
In particular, resistance to rifampin is associated with missense, insertion, and deletion mutations
in the rifampin resistance-determining region (RRDR) of rpoB, which encodes the [beta] subunit of the DNA-dependent RNA polymerase (17,18).
For people with this deletion mutation
, their battle is to identify and control lifestyle factors -- weight, blood pressure, diet -- to delay the onset of heart disease as long as possible.
Using melting curve analysis with the LightCycler, we have succeeded in rapidly detecting a 2-bp deletion mutation
in genomic DNA of a patient with Fabry disease and a 9-bp deletion mutation
in cDNA of a patient with carbamoyl-phosphate synthase I (CPS1; EC 6.
In conclusion, we propose that the deletion mutation
of exons 9-12 of the LDL-receptor gene is the most frequent deletion type in Korean FH patients and that the fragment 2 region may be used as the primary screening target to detect for large rearrangements of the LDL-receptor gene in Korean FH patients because all large deletions have been detected in fragment 2.
The deletion mutation
occurred in the sequence consisting of two direct repeats; only one copy of the repeat was retained in the mutant gene.
This targeted assay consists of 2 parts, one for each of the 2 most common EGFR mutations: a TaqMan (Applied Biosystems, Foster City, California) "real-time" PCR assay for the L858R point mutation in exon 21, and a capillary electrophoresis sizing assay to screen for deletion mutations
in exon 19.
Simultaneous inactivations of both the redBA and gam genes, an indication of deletions in the gene loci region, provide an available method to quantify deletion mutations
induced by various physical and chemical mutagens, such as X rays and alkylating agents (Horiguchi et al.
Of 30 mutations in the nonexposed infants, 20 were deletion mutations
but only 6 were caused by V(D)J.
Using pyrosequencing technology, Altogen Labs has established assays to determine SNPs, assay regions of multiple sequence variation in SNPs, detect insertion and deletion mutations
, and short tandem repeats.
Exon 19 deletion mutations
of epidermal growth factor receptor are associated with prolonged survival in non-small cell lung cancer patients treated with gefitinib or erlotinib.
Extensive preclinical and emerging clinical data indicate that MET is a driver of tumor growth when it is genetically altered by point mutations, exon 14 deletion mutations
, and/or gene amplification in a significant fraction (6-7%) of NSCLC patients.