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- Title
Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis.
- Authors
Ye, Xiaoqian; Shi, Lisong; Yin, Wei; Meng, Liuyan; Wang, Qing Kenneth; Bian, Zhuan
- Abstract
Aim: To clinically characterize and map the disease-associated locus in a five-generation Chinese family with autosomal dominant early-onset hereditary gingival fibromatosis (HGF). Material and Methods: A complete oral examination was conducted. Genomic DNA samples were obtained from 14 individuals. Short tandem repeats markers, which encompass four previously known loci related to HGF, were genotyped. Two-point log of the odds (LOD) scores were calculated using MLINK program of the LINKAGE software, multipoint and non-parametric linkage (NPL) analysis were performed using the GENEHUNTER software. Results: Clinical evaluation and histological examination of this family suggested typical features of HGF. The onset age was early in the generations, ranging between 1 and 2 years. None of the tested markers showed cosegregation among affected individuals. Genotyping data from four putative regions yielded significant negative two-point LOD scores (<−2.0) at θ=0. The maximum multipoint LOD scores and NPL analysis revealed exclusion of these loci as well. Conclusions: Exclusion of linkage in this family to any of the known HGF loci proved the existence of a novel locus for autosomal dominant HGF and showed that this rare disorder is far more heterogeneous than previously expected.
- Subjects
GINGIVAL diseases; DNA; DENTAL therapeutics; BIOMARKERS; DENTISTRY
- Publication
Journal of Clinical Periodontology, 2009, Vol 36, Issue 8, p627
- ISSN
0303-6979
- Publication type
Article
- DOI
10.1111/j.1600-051X.2009.01438.x