High throughput detection of small genomic insertions or deletions by Pyrosequencing.
Small insertions or deletions of nucleotides are common polymorphic variations in the human genome and can result in a predisposition to disease. However, high throughput methods for detecting these variations are limited. This report describes a method to detect this variation based on sequencing the boundaries of nucleotide alterations using the Pyrosequencing technique. This method can optimally detect up to 100 base pair nucleotide insertions and deletions, and also complicated genomic rearrangements.
Guo
Dong-chuan
DC
Department of Internal Medicine, University of Texas-Houston Medical School, MSB 1.410, 6431 Fannin, Houston, TX 77030, USA. Dongchuan.Guo@uth.tmc.edu
Qi
Yuhua
Y
He
Rumin
R
Gupta
Prateek
P
Milewicz
Dianna M
DM
D000465:Algorithms; D020137:Base Pair Mismatch / Q000235:genetics*; D001483:Base Sequence; D011508:Chondroitin Sulfate Proteoglycans / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D000071837:Fibrillins; D017353:Gene Deletion; D020869:Gene Expression Profiling / Q000379:methods*; D005787:Gene Frequency / Q000235:genetics; D005820:Genetic Testing; D016678:Genome; D037181:Lectins, C-Type; D008840:Microfilament Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software; D053675:Versicans
D011508:Chondroitin Sulfate Proteoglycans; D000071837:Fibrillins; D037181:Lectins, C-Type; D008840:Microfilament Proteins; C508322:VCAN protein, human; D053675:Versicans