Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.
SNP and comparative genome hybridization arrays (aCGH) are powerful techniques for identifying genome rearrangements, deletions, and duplications. We hypothesized that current array-based detection of copy number variation (CNV) could complement parametric linkage analysis and allow the rapid identification of functional mutations in families with inherited disorders. Herein, we demonstrate the utility of this technique by rapidly identifying a disease causing microdeletion within the PARK2 gene in a family with autosomal recessive Parkinsonism.
Bayrakli
Fatih
F
Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA.
Bilguvar
Kaya
K
Mason
Christopher E
CE
DiLuna
Michael L
ML
Bayri
Yasar
Y
Gungor
Levent
L
Terzi
Murat
M
Mane
Shrikant M
SM
Lifton
Richard P
RP
State
Matthew W
MW
Gunel
Murat
M
D018628:Gene Dosage; D005808:Genes, Recessive; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein