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[Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb; 26(1):50-3.ZY

Abstract

OBJECTIVE

To perform molecular diagnosis for a Chinese pedigree with osteogenesis imperfecta type I.

METHODS

Thirty pairs of primers were designed to amplify all the 52 exons, exon boundaries and promoter region of the COL1A1 gene from genomic DNA of peripheral blood cells of the family members. The PCR products were purified and directly sequenced. To check the mutation in normal controls, the genomic DNA from peripheral blood cells of the index patient, his mother and 60 normal controls were analyzed by amplification refractory mutation system.

RESULTS

A missense mutation of GAT>CAT was identified at codon 1441 of the COL1A1 gene from the family, which resulted in the replacement of aspartic acid by histidine (D1441H). This mutation was not found in a group of 60 normal controls.

CONCLUSION

The method for molecular diagnosis of osteogenesis imperfecta was established and a novel COL1A1 gene mutation, D1441H, was identified in the Chinese pedigree with osteogenesis imperfecta type I.

Authors+Show Affiliations

Center for Molecular Diagnosis of Genetic Diseases, Fuzhou General Hospital, Nanjing Military Region, Fuzhou, Fujian, 350025 PR China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

chi

PubMed ID

19199251

Citation

Ke, Long-feng, et al. "[Molecular Diagnosis of a Chinese Pedigree With Osteogenesis Imperfecta Type I]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 26, no. 1, 2009, pp. 50-3.
Ke LF, Zheng LW, Xie HH, et al. [Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26(1):50-3.
Ke, L. F., Zheng, L. W., Xie, H. H., Yan, A. Z., Zhu, Z. Y., & Lan, F. H. (2009). [Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 26(1), 50-3. https://doi.org/10.3760/cma.j.issn.1003-9406.2009.01.011
Ke LF, et al. [Molecular Diagnosis of a Chinese Pedigree With Osteogenesis Imperfecta Type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26(1):50-3. PubMed PMID: 19199251.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Molecular diagnosis of a Chinese pedigree with osteogenesis imperfecta type I]. AU - Ke,Long-feng, AU - Zheng,Lin-wen, AU - Xie,Hai-hua, AU - Yan,Ai-zhen, AU - Zhu,Zhong-yong, AU - Lan,Feng-hua, PY - 2009/2/10/entrez PY - 2009/2/10/pubmed PY - 2009/5/21/medline SP - 50 EP - 3 JF - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi VL - 26 IS - 1 N2 - OBJECTIVE: To perform molecular diagnosis for a Chinese pedigree with osteogenesis imperfecta type I. METHODS: Thirty pairs of primers were designed to amplify all the 52 exons, exon boundaries and promoter region of the COL1A1 gene from genomic DNA of peripheral blood cells of the family members. The PCR products were purified and directly sequenced. To check the mutation in normal controls, the genomic DNA from peripheral blood cells of the index patient, his mother and 60 normal controls were analyzed by amplification refractory mutation system. RESULTS: A missense mutation of GAT>CAT was identified at codon 1441 of the COL1A1 gene from the family, which resulted in the replacement of aspartic acid by histidine (D1441H). This mutation was not found in a group of 60 normal controls. CONCLUSION: The method for molecular diagnosis of osteogenesis imperfecta was established and a novel COL1A1 gene mutation, D1441H, was identified in the Chinese pedigree with osteogenesis imperfecta type I. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/19199251/[Molecular_diagnosis_of_a_Chinese_pedigree_with_osteogenesis_imperfecta_type_I]_ L2 - http://www.diseaseinfosearch.org/result/5451 DB - PRIME DP - Unbound Medicine ER -