常染色体显性遗传性牙龈纤维瘤病的一个新位点GINGF3定位于2号染色体2p22.3 - p23.3区域。

A novel locus for autosomal dominant hereditary gingival fibromatosis, GINGF3, maps to chromosome 2p22.3-p23.3.

作者信息

Ye X, Shi L, Cheng Y, Peng Q, Huang S, Liu J, Huang M, Peng B, Bian Z

机构信息

Key Laboratory for Oral Biomedical Engineering of Ministry of Education, Hospital and School of Stomatology, Wuhan University, Wuhan, China.

出版信息

Clin Genet. 2005 Sep;68(3):239-44. doi: 10.1111/j.1399-0004.2005.00488.x.

DOI:10.1111/j.1399-0004.2005.00488.x

PMID:16098013

Abstract

Hereditary gingival fibromatosis (HGF) is a rare, benign disorder characterized by slowly progressive fibrous overgrowth of the gingiva. To date, two loci have been mapped in familial cases with autosomal dominant non-syndromic HGF: GINGF (MIM 135300) on chromosome 2p21-p22 and GINGF2 (MIM 605544) on chromosome 5q13-q22. Of the two loci, only SOS1 (son of sevenless one, MIM 182530) gene underlying GINGF locus has been identified. Ascertainment of a large Chinese family has allowed the mapping of a novel locus to 2p22.3-p23.3, GINGF3. Haplotype construction and analysis localized the new locus to an 11.4-cM interval between markers D2S2221 (telomeric) and D2S1788 (centromeric). The maximum two-point limit of detection (LOD) score of 3.45 (theta=0) and multipoint LOD score of 5.00 for marker D2S390 strongly supported linkage to this region. Thus, this genetic interval is distal to and does not overlap with the previously described locus, GINGF, on 2p21-p22.

摘要

遗传性牙龈纤维瘤病（HGF）是一种罕见的良性疾病，其特征为牙龈进行性纤维性过度生长。迄今为止，已在常染色体显性非综合征型HGF的家族性病例中确定了两个基因座：位于2号染色体2p21 - p22的GINGF（MIM 135300）和位于5号染色体5q13 - q22的GINGF2（MIM 605544）。在这两个基因座中，仅确定了GINGF基因座的SOS1（七号less之子1，MIM 182530）基因。一个大型中国家系的研究确定了一个新的基因座，即位于2p22.3 - p23.3的GINGF3。单倍型构建和分析将新基因座定位在标记D2S2221（端粒）和D2S1788（着丝粒）之间的11.4厘摩区间内。标记D2S390的最大两点连锁分析优势对数（LOD）评分为3.45（θ = 0），多点LOD评分为5.00，有力地支持了与该区域的连锁关系。因此，这个遗传区间位于2p21 - p22上先前描述的基因座GINGF的远端，且与之不重叠。