Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene)

Journal Article · Thu Apr 01 04:00:00 EST 1993 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1993.1155· OSTI ID:6333140

Lu-Kuo, J; Ward, D C ^[1]; Spritz, R A ^[2]

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1. Yale Univ., New Haven, CT (United States)
2. Univ. of Wisconsin, Madison (United States)

A total of 25 DNA markers located on the long arm of human chromosome 2 have been mapped by fluorescence in situ hybridization. This region includes the locus for Waardenburg syndrome, type I (WS1), recently found to result, at least in some cases, from mutations of the PAX3 gene. The authors have established that the chromosomal location of the PAX3 gene is within band 2q36. They also show that three markers in the distal 2q region, including the PAX3 gene, are deleted in a patient with phenotypic features of WS1 associated with a de novo deletion (2)(q35q36.2). The improved physical map of this region should facilitate linkage mapping and positional cloning of loci on distal 2q. 46 refs., 2 figs., 1 tab.

• OSTI ID: 6333140
• Journal Information: Genomics; (United States), Journal Name: Genomics; (United States) Vol. 16:1; ISSN 0888-7543; ISSN GNMCEP
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AUDITORY ORGANS
BODY
CHROMOSOMES
CONGENITAL DISEASES
DISEASES
DNA HYBRIDIZATION
FLUORESCENCE
GENE MUTATIONS
HUMAN CHROMOSOME 2
HUMAN CHROMOSOMES
HYBRIDIZATION
LUMINESCENCE
MAPPING
MUTATIONS
ORGANS
SENSE ORGANS