Shashi V, Pallos D, Pettenati M J, Cortelli J R, Fryns J P, von Kap-Herr C, Hart T C
Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina 27157, USA.
J Med Genet. 1999 Sep;36(9):683-6.
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.
牙龈纤维瘤病（GF）以多种遗传形式出现，表现为简单的孟德尔性状、见于畸形综合征以及某些染色体疾病中。导致GF的特定基因尚未确定。遗传性牙龈纤维瘤病（HGF，MIM 135300）的常染色体显性遗传形式最近在一个巴西大家庭中被定位到2号染色体的2p21区域，并且之前有报道一名患有涉及2p13→p21细胞遗传学重复的男孩患有GF。因此，我们推测在巴西家庭和患有2号染色体p重复的男孩中，GF可能由一个共同的基因位点引起。我们对巴西家庭进行了额外的遗传连锁研究，并对患有细胞遗传学重复的患者进行了分子细胞遗传学研究，以便更精确地将HGF表型的遗传区间与重复的2p区间关联起来。对新家庭成员进行的额外连锁分析将HGF的候选区域缩小到一个8 Mb的区域。对与GF相关的2p13→p21重复进行的分子细胞遗传学分析表明，重复区域位于HGF候选区间的近端。因此，我们的结果支持2号染色体上存在两个与GF相关的不同基因位点。
