Localization of the gene for the nevoid basal cell carcinoma syndrome

Journal Article · Sun May 01 04:00:00 EDT 1994 · American Journal of Human Genetics; (United States)

OSTI ID:7076997

Goldstein, A M; Bale, S J; Bale, A E; Dean, M ^[1]; Stewart, C ^[2]

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1. National Cancer Institute, Bethesda, MD (United States)
2. Frederick Cancer Research and Development Center, Frederick, MD (United States)

The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder characterized by multiple basal cell carcinomas, jaw cysts, pits of the palms, and/or soles, ectopic calcification, and skeletal malformations. The NBCC gene has recently been mapped to chromosome 9q22.3-9q31. In order to further define the region containing the NBCC gene, the authors have analyzed 137 individuals from eight families for linkage, using 11 markers from the region. Eight markers showed statistically significantly evidence for linkage to NBCC. Three markers (D9S180, ALDOB, and D9S173) showed no definite recombination with the disease locus. All families showed some evidence for linkage to markers in this region. On the basis of the inspection of individual recombinants and previously published information about map location, the authors suggest the following order for the markers: D9S119-D9S12-D9S197-D9S196-(NBCC,D9S180-D9S173,ALDOB)-D96S109-D9S127-(D9S53,D9S29). They are currently developing YAC contigs for the most closely linked markers, to further refine the location of the NBCC gene. 22 refs., 4 figs., 2 tabs.

• OSTI ID: 7076997
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:5; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
CARCINOMAS
CHROMOSOMES
DISEASES
ETIOLOGY
GENETIC MAPPING
HUMAN CHROMOSOME 9
HUMAN CHROMOSOMES
MAPPING
NEOPLASMS