Autor(es): Shashi, Vandana ; Pallos, Débora ; Pettenati, Mark J. ; Cortelli, José Roberto ; Fryns, Jean-Pierre ; Von Kap-Herr, Christopher ; Hart, Thomas Charles
Data: 2019
Origem: Oasisbr
Assunto(s): Gingival Fibromatosis; Chromosome Duplication; Chromosome 2; Short Arm; Partial Duplication; Linkage; Genetics & Heredity; Genetics & Heredity
Made available in DSpace on 2019-09-12T16:57:23Z (GMT). No. of bitstreams: 0 Previous issue date: 1999
National Institute of Dental and Craniofacial Research (NIDCR)
Gingival fibromatosis (GF) occurs in several genetic forms as a simple Mendelian trait, in malformation syndromes, and in some chromosomal disorders. Specific genes responsible for GF have not been identified. An autosomal dominant form of hereditary gingival fibromatosis (HGF, MIM 135300) was recently mapped to chromosome 2p21 in a large Brazilian family and there was an earlier report of GF in a boy with a cytogenetic duplication involving 2p13-->p21. We thus hypothesised that a common gene locus may be responsible for GF in both the Brazilian family and the boy with the chromosome 2p duplication. We performed additional genetic linkage studies on the Brazilian family and molecular cytogenetic studies on the patient with the cytogenetic duplication to correlate more precisely the genetic interval of the HGF phenotype with the duplicated 2p interval. Additional linkage analysis of new family members resulted in refinement of the candidate region for HGF to an 8 Mb region. Molecular cytogenetic analysis of the 2p13-->p21 duplication associated with GF showed that the duplicated region was proximal to the candidate interval for HGF. Thus, our results support the presence of two different gene loci on chromosome 2p that are involved in GF.
Wake Forest Univ, Bowman Gray Sch Med, Dept Pediat, Med Genet Sect, Winston Salem, NC 27157 USA; Universidade de Taubaté (Unitau), Dept Periodont, Sao Paulo, Brazil; Katholieke Univ Leuven Hosp, Ctr Human Genet, B-3000 Louvain, Belgium
