Exceptional Chromosome Regions Workshop I
Evan E. Eichler
Case Western Reserve University
A series of chromosome 19, p12-specific repeat probes have been generated and
have been used to screen two genomic library sources (RPCI11 and CIT-D BAC libraries).
Probes were generated using a degenerate 19p12-specific beta-satellite PCR assay.
The initial target region focussed primarily on the existing 8 gap regions within
the physical map of 19p12. To date, a total of 403 BAC clones have been identified
(192 RPCI-11 BACs and 211 CIT-D BACs) representing an estimated ~2.5 Mb of the
19p12 region. A subset (74) of these BAC clones have been selected for BAC-end
sequence analysis. These BAC-ends in conjunction with existing BAC-end sequences
deposited in GenBank have successfully been used to extend 12 of the 16 BAC
contigs in the region. This includes extension of the most proximal contig to
include the transition into heterochromatic alpha-satellite DNA. An additional
120 kb of pericentromeric DNA has been added to the map, including higher-order
alpha satellite DNA. Four of the original eight gap regions have been tentatively
closed based on this analysis. In collaboration with Dr. Anne Olsen (LLNL),
57 BACs have been selected for integration into the 19p12 physical map. Incorporation
of these clones into the 19p12 physical map is currently being used to complete
sequence analysis in this region.
The short arm of chromosome 16 is also under analysis.
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