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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
Author(s) -
Van Roy Nadine,
Vandesompele Jo,
Berx Geert,
Staes Katrien,
Van Gele Mireille,
De Smet Els,
De Paepe Anne,
Laureys Geneviève,
van der Drift Pauline,
Versteeg Rogier,
Van Roy Frans,
Speleman Frank
Publication year - 2002
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.10034
Subject(s) - breakpoint , cosmid , contig , biology , genetics , chromosomal translocation , yeast artificial chromosome , bacterial artificial chromosome , breakpoint cluster region , chromosome 17 (human) , chromosome , gene , gene mapping , genome
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. © 2002 Wiley‐Liss, Inc.