Fine structure physical mapping of a 1.9 Mb region of chromosome 13q12

I. H. Still, T. Roberts, John Kenneth Cowell

Research output: Contribution to journalArticle

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Abstract

Through linkage analysis and the identification of structural chromosome rearrangements, a number of disease genes have been mapped to the pericentromeric region of the long arm of chromosome 13. Structural rearrangements, or deletions, of the 13q12 region have been implicated in a range of myeloproliferative neoplasms, and other haematopoietic malignancies. In particular, seven cases of a t(8;13)(p11;q12.1) rearrangement have been noted in patients with an atypical myeloproliferative disorder associated with T-cell leukemia and eosinophilia. We have previously identified a CEPH mega YAC, 943E4, which crosses the translocation breakpoint in archival tumour samples from two patients with this t(8;13) translocation. As an initial step in the characterisation of this translocation breakpoint, we have generated a fine structure physical map of this 1.9 Mb YAC. We have used the method of YAC fragmentation to generate a series of deletion constructs of known size, which provide discreet physical landmarks convenient for mapping genetic markers along the 943E4 YAC. Analysis of these deletion constructs defined the order of EXTs and microsatellite markers in 94E4 as: cen-NIB1257-(ATP1AL1/D13S283)-D13S179E-(D13S504E/D13S505E)-D13S824E-D13S182E -D13S221-tel. These markers have also been assigned to physically defined regions relative to the fragmented YAC endpoints and a derived NotI restriction map.

Original languageEnglish (US)
Pages (from-to)15-24
Number of pages10
JournalAnnals of Human Genetics
Volume61
Issue number1
DOIs
StatePublished - Jan 1 1997

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Chromosomes
T-Cell Leukemia
Chromosomes, Human, Pair 13
Myeloproliferative Disorders
Eosinophilia
Hematologic Neoplasms
Genetic Markers
Microsatellite Repeats
Neoplasms
Genes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Fine structure physical mapping of a 1.9 Mb region of chromosome 13q12. / Still, I. H.; Roberts, T.; Cowell, John Kenneth.

In: Annals of Human Genetics, Vol. 61, No. 1, 01.01.1997, p. 15-24.

Research output: Contribution to journalArticle

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