Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (gorlin) syndrome and fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3

Journal Article · Thu Sep 15 04:00:00 EDT 1994 · Genomics

DOI:https://doi.org/10.1006/geno.1994.1528· OSTI ID:255149

Farndon, P A; Hardy, C; Kilpatrick, M W ^[1]

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1. Birmingham Maternity Hospital, Edgbaston (United Kingdom); and others

Four disease genes (NBCCS, ESS1, XPAC, FACC) map to 9q22.3-q31. A fine map of this region was produced by linkage and haplotype analysis using 12 DNA markers. The gene for nevoid basal cell carcinoma syndrome (NBCCS, Gorlin) has an important role in congenital malformations and carcinogenesis. Phase-known recombinants in a study of 133 meioses place NBCCS between (D9S12/D9S151) and D9S176. Haplotype analysis in a two-generation family suggests that NBCCS lies in a smaller interval of 2.6 cM centromeric to D9S287. These flanking markers will be useful clinically for gene tracking. Recombinants also map FACC (Fanconi anemia, group C) to the same region, between (D9S12/D9S151) and D9S287. The recombination rate between (D9S12/D9S151) and D9S53 in males is 8.3% and 13.2% in females, giving a sex-specific male:female ratio of 1:1.6 and a sex-averaged map distance of 10.4 cM. No double recombinants were detected, in agreement with the apparently complete level of interference predicted from the male chiasmata map. 19 refs., 2 figs., 1 tab.

• OSTI ID: 255149
• Journal Information: Genomics, Journal Name: Genomics Journal Issue: 2 Vol. 23; ISSN GNMCEP; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
ANEMIAS
CARCINOGENESIS
CONGENITAL MALFORMATIONS
GENETIC MAPPING
HUMAN CHROMOSOME 9
PATHOGENESIS