Hart T C, Pallos D, Bowden D W, Bolyard J, Pettenati M J, Cortelli J R
Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, USA.
Am J Hum Genet. 1998 Apr;62(4):876-83. doi: 10.1086/301797.
Gingival fibromatosis is characterized by a slowly progressive benign enlargement of the oral gingival tissues. The condition results in the teeth being partially or totally engulfed by keratinized gingiva, causing aesthetic and functional problems. Both genetic and pharmacologically induced forms of gingival fibromatosis are known. The most common genetic form, hereditary gingival fibromatosis (HGF), is usually transmitted as an autosomal dominant trait, although sporadic cases are common and autosomal recessive inheritance has been reported. The genetic basis of gingival fibromatosis is unknown. We identified an extended family (n=32) segregating an autosomal dominant form of isolated gingival fibromatosis. Using a genomewide search strategy, we identified genetic linkage (Zmax=5.05, straight theta=.00) for the HGF phenotype to polymorphic markers in the genetic region of chromosome 2p21 bounded by the loci D2S1788 and D2S441. This is the first report of linkage for isolated HGF, and the findings have implications for identification of the underlying genetic basis of gingival fibromatosis.
牙龈纤维瘤病的特征是口腔牙龈组织进行性良性肿大。这种情况会导致牙齿部分或完全被角化牙龈包绕，引发美观和功能问题。已知牙龈纤维瘤病有遗传和药物诱导两种类型。最常见的遗传类型，即遗传性牙龈纤维瘤病（HGF），通常以常染色体显性性状遗传，不过散发病例也很常见，且有常染色体隐性遗传的报道。牙龈纤维瘤病的遗传基础尚不清楚。我们发现了一个大家庭（n = 32），其成员患有常染色体显性遗传的孤立性牙龈纤维瘤病。通过全基因组搜索策略，我们确定了HGF表型与位于2号染色体p21区域、由D2S1788和D2S441位点界定的多态性标记之间的遗传连锁关系（Zmax = 5.05，直接theta = 0.00）。这是孤立性HGF连锁关系的首次报道，这些发现对确定牙龈纤维瘤病的潜在遗传基础具有重要意义。
