title: [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].
abstract: Osteogenesis imperfecta (OI) is heritable bone fragility,which is inherited as an autosomal dominant trait clinical presentation. Clinical symptom, in general, is dominantly inherited OI with blue sclerae, hearing loss and mild-moderate skeletal deformity. Genetic loci of OI have been mapped to17q21.31-q22 and 7q22.1, in which COL1A1 and COL1A2 are known to be the causal genes. In this work,we performed linkage analysis in a kindred with autosomal dominant hereditary OI. A tight linkage to the markers on chromosome 17q21.31-q22 (maximum two-point lod score: 9.31 at theta = .00) was observed. Sequence analysis of COL1A1 revealed a single-base mutation that converted the consensus sequence at the 5' end of intron 26 from GT to AT to form an abnormal splicing site leading to OI.
authors.affiliation: Bio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai 200030, China. qinwei@sjtu.edu.cn
authors.forename: Wei
authors.initials: W
authors.lastname: Qin
authors.forename: Jun-Xiang
authors.initials: JX
authors.lastname: He
authors.forename: Jin
authors.initials: J
authors.lastname: Shi
authors.forename: Qing-He
authors.initials: QH
authors.lastname: Xing
authors.forename: Jian-Juns
authors.initials: JJ
authors.lastname: Gao
authors.forename: Lin
authors.initials: L
authors.lastname: He
authors.forename: Xue-Qing
authors.initials: XQ
authors.lastname: Qian
authors.forename: Zhuang-Jun
authors.initials: ZJ
authors.lastname: Liu
authors.forename: An-Li
authors.initials: AL
authors.lastname: Shu
authors.forename: Lin
authors.initials: L
authors.lastname: He
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002886:Chromosomes, Human, Pair 17; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D004252:DNA Mutational Analysis; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007438:Introns; D008126:Lod Score; D008297:Male; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain