In this way, we determined how to mutagenize the worms to isolate appropriate deletion mutations
that were readily detectable with PCR and agarose gel electrophoresis.
Comparison of those sequences revealed a 6 base-pair deletion mutation
from 1,001 bp to 1,006 bp in the exon (GenBank accession No.
africanum may be identified by spoligotyping (4), by specific deletion mutations
(5), DNA fingerprinting by IS6110 restriction fragment length polymorphisms (RFLP) (4), or a combination of these methods.
A very large scale deletion mutation
in human peripheral blood cells mitochondrial DNA.
None of the normal tissues harbored a deletion mutation
in the polyA tract, suggesting that the 3' UTR polyA deletions identified are specific for carcinomas.
During spring 1999, Beijing/262/95-like variants, containing a characteristic deletion mutation
at amino acid 134 of the HA gene, were isolated from 13 persons at a DOD-GEIS influenza surveillance site in Lima, Peru.
A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation
in the SPTBN2 gene: A clinical and genetic study.
In black patients who carried a contiguous exon deletion mutation
(n=63), the mutation was found in the 3' distal region of the gene in 44 (70%) patients, showing that it is 2.
659_660delTA deletion mutation
segregating with the disease phenotype.
In addition, of all reported DFNA5 mutations, a 3-bp deletion mutation
Nineteen cell lines carried mutations of types generally known to be stable in human populations, specifically, various point mutations, a 3-bp cystic fibrosis deletion mutation
, and a large a-thalassemia deletion.
However, in either case, a single-base substitution in the sample generates a very slight conformational difference in the heteroduplex that is typically more difficult to resolve by conventional electrophoretic methods than an insertion or a deletion mutation
, especially when using HDA (1).
A large deletion mutation
in the CFTR gene (3120+1 kbdel8.
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.