Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: Linkage and loss of heterozygosity

Journal Article · Wed Sep 01 04:00:00 EDT 1993 · American Journal of Human Genetics; (United States)

OSTI ID:5044495

Chenevix-Trench, G; Wicking, C; Berkman, J; Sharpe, H; Hockey, A; Haan, E; Oley, C; Ravine, D; Turner, A; Searle, J ^[1]

---

1. and others

Nevoid basal cell carcinoma syndrome (NBCCS; basal cell nevus syndrome or Gorlin syndrome) is a cancer-predisposition syndrome characterized by multiple basal cell carcinomas (BCCs) and diverse developmental defects. The gene for NBCCS has been mapped to 9q23.1-q31 in North Americal and European families. In addition, loss of heterozygosity (LOH) for genetic markers in this region has been detected in sporadic BCCs, indicating that the NBCCs gene is probably a tumor-suppressor gene. In this study the authors have determined that the NBCCS gene is also linked to this region in Australasian pedigrees and that there is no significant evidence of heterogeneity. They have defined the localization of the gene by multipoint and haplotype analysis of 15 families, using four microsatellite markers. LOH at these loci was detected in 50% of sporadic BCCs, a rate that is significantly higher than that in other skin lesions used as controls. 21 refs., 3 figs., 2 tabs.

• OSTI ID: 5044495
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 53:3; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

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