.png){kind=icon}
Return
Oligonucleotide microarray based detection of repetitive sequence changes
.png){kind=icon}
OA
AI
DOI：10.1002/1098-1004(200010)16:4<354::AID-HUMU8>3.0.CO;2-V.png)
.png){kind=icon}
.png){kind=icon}
Share.png){kind=icon}
Save
Abstract
En 中文
Prior studies of oligonucleotide microarray-based mutational analysis have demonstrated excellent sensitivity and specificity except in circumstances where a frameshift mutation occurs in the context of a short repeated sequence. To further evaluate this circumstance, a series of nucleic acid samples having heterozygous mutations within repetitive BRCA1 sequence tracts was prepared and evaluated. These mutations included single nucleotide insertions and deletions in homopolymer runs, insertions and deletions of trinucleotide repeats, and duplications. Two-color comparative hybridization experiments were used wherein wild type reference and test targets are co-hybridized to microarrays designed to screen the entire BRCA1 coding sequence for all possible sequence changes. Mutations in simulated heterozygote samples were detected by observing relative losses of test target hybridization signal to select perfect match oligonucleotide probes. While heterozygous mutations could be readily distinguished above background noise in 9/19 cases, it was not possible to detect alterations in a poly dA/dT tract, small tripler repeat expansions, and a 10 bp direct repeat. Unexpectedly, samples containing (GAT)(3) tripler repeat expansions showed significantly higher affinity toward specific perfect match probes relative to their wild type counterparts. Therefore, markedly increased as well as decreased test sample hybridization to perfect march probes should be used to raise a suspicion of repetitive sequence changes. Hum Mutat 16:354-363, 2000. (C) 2000 Wiley-Liss, Inc.
Keywords:
oligonucleotide microarray
DNA chip
mutation detection
double labeling
repetitive sequences
loss of hybridization signal analysis
BRCA1
tripler repeat expansion
AI Summary
Key information extracted from the uploaded paper, including a brief overview, abstract, background, key highlights, visual analysis, and future outlook.
Journal
IF:
3.7
Papers:
5.2K
Citations:
1.3W
Organization
No organization information available
Cited Papers
Sequence-independent and linear variation of oligonucleotide DNA binding stabilities.png)
NUCLEIC ACIDS RESEARCHOAAI
NUCLEIC ACIDS RESEARCHIF13.1
OAAIShareSaveInterstitial Irradiation and Hyperthermia for the Treatment of Recurrent Malignant Brain TumorsNeurosurgery
NeurosurgeryIF0
PREAI
ShareSaveShareSaveShareSaveDetermination of ancestral alleles for human single-nucleotide polymorphisms using high-density oligonucleotide arraysNATURE GENETICS
NATURE GENETICSIF31.8
PREAI
ShareSaveRecent advances in understanding the pathogenesis of Huntington's diseaseTRENDS IN NEUROSCIENCES
TRENDS IN NEUROSCIENCESIF15.1
PREAI
ShareSaveEnhanced high density oligonucleotide array-based sequence analysis using modified nucleoside triphosphatesNUCLEIC ACIDS RESEARCHOAAI
NUCLEIC ACIDS RESEARCHIF13.1
OAAIShareSave
View more