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[Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta].
Yi Chuan Xue Bao. 2005 Mar; 32(3):248-52.YC

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+Show Affiliations

Qin W
Bio-X Life Science Research Center, Shanghai Jiao Tong University, Shanghai 200030, China. qinwei@sjtu.edu.cn
He JX
No affiliation info available
Shi J
No affiliation info available
Xing QH
No affiliation info available
Gao JJ
No affiliation info available
He L
No affiliation info available
Qian XQ
No affiliation info available
Liu ZJ
No affiliation info available
Shu AL
No affiliation info available
He L
No affiliation info available

MeSH

AdolescentBase SequenceChromosomes, Human, Pair 17Collagen Type ICollagen Type I, alpha 1 ChainDNA Mutational AnalysisFemaleGenetic LinkageHumansIntronsLod ScoreMaleOsteogenesis ImperfectaPedigreePoint Mutation

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

chi

PubMed ID

15931785

Citation

Qin, Wei, et al. "[Mutation Detection of COL1A1 Gene in a Pedigree With Osteogenesis Imperfecta]." Yi Chuan Xue Bao = Acta Genetica Sinica, vol. 32, no. 3, 2005, pp. 248-52.
Qin W, He JX, Shi J, et al. [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta]. Yi Chuan Xue Bao. 2005;32(3):248-52.
Qin, W., He, J. X., Shi, J., Xing, Q. H., Gao, J. J., He, L., Qian, X. Q., Liu, Z. J., Shu, A. L., & He, L. (2005). [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta]. Yi Chuan Xue Bao = Acta Genetica Sinica, 32(3), 248-52.
Qin W, et al. [Mutation Detection of COL1A1 Gene in a Pedigree With Osteogenesis Imperfecta]. Yi Chuan Xue Bao. 2005;32(3):248-52. PubMed PMID: 15931785.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta]. AU - Qin,Wei, AU - He,Jun-Xiang, AU - Shi,Jin, AU - Xing,Qing-He, AU - Gao,Jian-Juns, AU - He,Lin, AU - Qian,Xue-Qing, AU - Liu,Zhuang-Jun, AU - Shu,An-Li, AU - He,Lin, PY - 2005/6/4/pubmed PY - 2008/2/5/medline PY - 2005/6/4/entrez SP - 248 EP - 52 JF - Yi chuan xue bao = Acta genetica Sinica JO - Yi Chuan Xue Bao VL - 32 IS - 3 N2 - 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. SN - 0379-4172 UR - https://www.unboundmedicine.com/medline/citation/15931785/[Mutation_detection_of_COL1A1_gene_in_a_pedigree_with_osteogenesis_imperfecta]_ L2 - https://www.diseaseinfosearch.org/result/5451 DB - PRIME DP - Unbound Medicine ER -