title: Refinement of the locus for autosomal dominant hereditary gingival fibromatosis (GINGF) to a 3.8-cM region on 2p21.
abstract: Hereditary gingival fibromatosis (HGF, MIM 135300; approved gene symbol GINGF) is an oral disease characterized by enlargement of gingiva. Recently, a locus for autosomal dominant HGF has been mapped to an 11-cM region on chromosome 2p21. In the current investigation, we genotyped four Chinese HGF families using polymorphic microsatellite markers on 2p21. The HOMOG test provided evidence for genetic homogeneity, with evidence for linkage in four families (heterogeneity versus homogeneity test HOMOG, chi(2) = 0. 00). A cumulative maximum two-point lod score of 5.04 was produced with marker D2S390 at a recombination frequency of &theta; = 0 in the four linked families. Haplotype analysis localized the hereditary gingival fibromatosis locus within the region defined by D2S352 and D2S2163. This region overlaps by 3.8 cM with the previously reported HGF region. Single-strand conformation polymorphism and sequence analysis of the coding region of cytochrome P450 1B1 (CYP1B1) excluded it as a likely candidate gene.
authors.affiliation: Shanghai Research Center of Biotechnology, Chinese Academy of Science, Shanghai, 200233, People's Republic of China.
authors.forename: S
authors.initials: S
authors.lastname: Xiao
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: B
authors.initials: B
authors.lastname: Qu
authors.forename: M
authors.initials: M
authors.lastname: Yang
authors.forename: G
authors.initials: G
authors.lastname: Liu
authors.forename: L
authors.initials: L
authors.lastname: Bu
authors.forename: Y
authors.initials: Y
authors.lastname: Wang
authors.forename: L
authors.initials: L
authors.lastname: Zhu
authors.forename: H
authors.initials: H
authors.lastname: Lei
authors.forename: L
authors.initials: L
authors.lastname: Hu
authors.forename: X
authors.initials: X
authors.lastname: Zhang
authors.forename: J
authors.initials: J
authors.lastname: Liu
authors.forename: G
authors.initials: G
authors.lastname: Zhao
authors.forename: X
authors.initials: X
authors.lastname: Kong
mesh_terms: D001189:Aryl Hydrocarbon Hydroxylases; D044466:Asian People / Q000235:genetics; D002681:China; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D065633:Cytochrome P-450 CYP1B1; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005351:Fibromatosis, Gingival / Q000235:genetics*; D005799:Genes, Dominant; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D010375:Pedigree; D011110:Polymorphism, Genetic
chemical_list: D005819:Genetic Markers; D003577:Cytochrome P-450 Enzyme System; D001189:Aryl Hydrocarbon Hydroxylases; C585496:CYP1B1 protein, human; D065633:Cytochrome P-450 CYP1B1