Combinatorial sequencing-by-hybridization: analysis of the NF1 gene.
Neurofibromatosis type 1 (NF1), one of the most common autosomal dominant disorders, is caused by mutations in the NF1 gene. A variety of methods are currently used in clinical settings to define disease-causing mutations. We describe microarray-based combinatorial sequencing-by-hybridization (cSBH), which overcomes some disadvantages associated with other techniques. Sequence readout of 2 kb was achieved on a single slide, with detection of base substitutions, insertions and small deletions. In addition, cSBH analysis of the entire NF1 gene demonstrates reproducibility, efficiency and reduced time; therefore, representing an alternative to extensive DNA sequence characterization.
Schirinzi
Annalisa
A
Center for Translational Medicine, Department of Medicine, Thomas Jefferson University, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA.
Drmanac
Snezana
S
Dallapiccola
Bruno
B
Huang
Steve
S
Scott
Kathryn
K
De Luca
Alessandro
A
Swanson
Donald
D
Drmanac
Radoje
R
Surrey
Saul
S
Fortina
Paolo
P
D025063:Chromosome Disorders / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D025542:Neurofibromin 1 / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D012680:Sensitivity and Specificity
D025542:Neurofibromin 1