A YAC contig spanning the nevoid basal cell carcinoma syndrome, Fanconi anaemia group C, and xeroderma pigmentosum group A loci on chromosome 9q

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · Genomics

DOI:https://doi.org/10.1006/geno.1994.1454· OSTI ID:186051

Morris, D J; Reis, A ^[1]

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1. Freie Universtiaet, Berlin (Germany)

Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is an autosomal dominant disorder, characterized primarily by multiple basal cell carcinomas, epithelium-lined jaw cysts, and palmar and plantar pits, as well as various other features. Loss of heterozygosity studies and linkage analysis have mapped the NBCCS gene to chromosome 9q and suggested that it is a tumor suppressor. The apparent sensitivity of NBCCS patients to UV and X-irradiation raises the possibility of hypersensitivity to DNA-damaging reagents or defective DNA repair being etiological in the disorder. The recent mapping of the Fanconi anaemia group C (FACC) and xeroderma pigmentosum complementing group A (XPAC) genes to the same region on 9q has led us to begin the molecular dissection of the 9q22-q31 region. PCR analysis of the presence or absence of 10 microsatellite markers and exons 3 and 4 of the XPAC and FACC genes, respectively, allowed us to order 12 YACs into an overlapping contig and to order the markers as follows: D9S151/D9S12P1-D9S12P2-D9S197-D9S196-D9S280-FACC-D9S287/XPAC-D9S180-D9S6-D9S176. Sizing of the YACs has provided an initial estimate of the size of the NBCCS candidate region between D9S12 and D9S180 to be less than 1.65 Mb. 45 refs., 1 fig., 1 tab.

• OSTI ID: 186051
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 1 Vol. 23; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ANEMIAS
BIOLOGICAL MARKERS
CARCINOMAS
CONTIGS
DNA
DNA REPAIR
DOMINANT MUTATIONS
ETIOLOGY
EXONS
GENES
GENETIC MAPPING
GENETIC RADIATION EFFECTS
HEREDITARY DISEASES
HUMAN CHROMOSOME 9
NUCLEOTIDES
PATIENTS
POLYMERASE CHAIN REACTION
SIZE
ULTRAVIOLET RADIATION
X RADIATION
XERODERMA PIGMENTOSUM
YEASTS