Localization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment located between the ACCN1 and TLK2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis type 1 patients.
We have constructed a 1.4-Mb P1 artificial chromosome/bacterial artificial chromosome (PAC/BAC) contig spanning the 17q breakpoint of a constitutional translocation t(1;17)(p36.2;q11.2) in a patient with neuroblastoma. Three 17q breakpoint-overlapping cosmids were identified and sequenced. No coding sequences were found in the immediate proximity of the 17q breakpoint. The PAC/BAC contig covers the region between the proximally located ACCN1 gene and the distally located TLK2 gene and SCYA chemokine gene cluster. The observation that the 17q breakpoint region could not be detected in any of the screened yeast artificial chromosome libraries and the localization of the 17q breakpoint in the vicinity of the distal breakpoints of two microdeletions in patients with neurofibromatosis type 1 suggest that this chromosomal region is genetically unstable and prone to rearrangements.
Department of Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Nadine
N
Van Roy
Jo
J
Vandesompele
Geert
G
Berx
Katrien
K
Staes
Mireille
M
Van Gele
Els
E
De Smet
Anne
A
De Paepe
Geneviève
G
Laureys
Pauline
P
van der Drift
Rogier
R
Versteeg
Frans
F
Van Roy
Frank
F
Speleman
D016543:Central Nervous System Neoplasms / Q000235:genetics*; D019457:Chromosome Breakage / Q000235:genetics*; D002872:Chromosome Deletion; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D027042:Chromosomes, Artificial, P1 Bacteriophage / Q000235:genetics; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003001:Cloning, Molecular; D020451:Contig Mapping / Q000379:methods; D005796:Genes / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D009447:Neuroblastoma / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D011519:Proto-Oncogenes / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics*
D005819:Genetic Markers