The gene for cherubism maps to chromosome 4p16

被引：83

作者：

Tiziani, V

Reichenberger, E

Buzzo, CL

Niazi, S

Fukai, N

Stiller, M

Peters, H

Salzano, FM

do Amaral, CMR

Olsen, BR

机构：

[1] Harvard Univ, Sch Dent Med, Harvard Forsyth Dept Oral Biol, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Dept Cell Biol, Cambridge, MA 02138 USA

[3] SOBRAPAR, Inst Cirurgia Plast Craniofacial, Campinas, Brazil

[4] Free Univ Berlin, Klin Polyklin Zahn Mund & Kieferheilkunde, D-1000 Berlin, Germany

[5] Univ Berlin, Inst Med Genet, Berlin, Germany

[6] Univ Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1999年 / 65卷 / 01期

关键词：

D O I：

10.1086/302456

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of similar to 22 cM.

引用

页码：158 / 166

页数：9

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