Physical mapping of the Bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1

Joel Straughen, Susan Ciocci, Tian Zhang Ye, David N. Lennon, Maria Proytcheva, Becky Alhadeff, Peter Goodfellow, James German, Nathan A. Ellis, Joanna Groden

Research output: Contribution to journalArticlepeer-review

21 Scopus citations

Abstract

The gene for Bloom syndrome (BLM) has been mapped to human chromosome 15 band q26.1 by homozygosity mapping. Further refinement of the location of BLM has relied upon linkage-disequilibrium mapping and somatic intragenic recombination. In combination with these mapping approaches and to identify novel DNA markers and probes for the BLM candidate region, a contiguous representation of the 2-Mb region that contains the BLM gene was generated and is presented here. YAC and P1 clones from the region have been identified and ordered by using previously available genetic markers in the region along with newly developed sequence-tagged sites from radiation-reduced hybrids, polymorphic dinucleotide repeat loci, and end sequences of YACs and P1s. A long-range restriction map of the 2-Mb region that allowed estimation of the distance between polymorphic microsatellite loci is also reported. This map and the DNA markers derived from it were instrumental in the recent identification of the BLM gene.

Original languageEnglish (US)
Pages (from-to)118-128
Number of pages11
JournalGenomics
Volume35
Issue number1
DOIs
StatePublished - Jul 1 1996
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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