A 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region in 17p11.2-p12
- Baylor College of Medicine, Houston, TX (United States)
Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a 1.5-Mb tandem duplication in chromosome 17p11.2-p12, and hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a 1.5-Mb deletion at this locus. Both diseases appear to result from an altered copy number of the peripheral myelin protein-22 gene, PMP22, which maps within the critical region. To identify additional genes and characterize chromosomal elements, a 1.5-Mb cosmid contig of the CMT1A duplication/HNPP deletion critical region was assembled using a yeast artificial chromosome (YAC)-based isolation and binning strategy. Whole YAC probes were used for screening a high-density arrayed chromosome 17-specific cosmid library. Selected cosmids were spotted on dot blots and assigned to bins defined by YACs. This binning of cosmids facilitated the subsequent fingerprint analysis. The 1.5-Mb region was covered by 137 cosmids with a minimum overlap set of 52 cosmids assigned to 17 bins and 9 contigs. 20 refs., 2 figs.
- OSTI ID:
- 478569
- Journal Information:
- Genomics, Vol. 34, Issue 1; Other Information: PBD: 15 May 1996
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
HUMAN CHROMOSOME 17
STRUCTURE-ACTIVITY RELATIONSHIPS
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
DNA-CLONING
MAN
HEREDITARY DISEASES
NERVOUS SYSTEM DISEASES
MYELIN
GENE MUTATIONS
COSMIDS
CONTIGS
PROTEINS
ELECTROPHORESIS
POLYMERASE CHAIN REACTION
PROBES
DOMINANT MUTATIONS
BIOLOGICAL MARKERS