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[Gene mutation analysis of a Chinese family with osteogenesis imperfecta].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Apr; 23(2):192-4.ZY

Abstract

OBJECTIVE

To study the gene mutation of collagen, type I, alpha 1 (COL1A1) associated with the clinical characterization of a Chinese family with type I osteogenesis imperfecta (OI).

METHODS

Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to check all the members in the family with OI and 50 normal control people for detecting the mutation of COL1A1 gene.

RESULTS

A 2461G>A (G821S) mutation was found and identified in COL1A1 gene of OI patients, to whom the individual clinical characterization was displayed, however. And the other members in the family with OI and the control did not have such gene mutation as 2461G>A.

CONCLUSION

The mutation of COL1A1 gene is one of the OI etiologic causes in China. There is no simple universal linkage between such gene changes and OI phenotype, but which not only involved in the OI genotype but the genetic background as well.

Authors+Show Affiliations

Department of Pathology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510080 P.R.China.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

chi

PubMed ID

16604495

Citation

Wang, Zhuo, et al. "[Gene Mutation Analysis of a Chinese Family With Osteogenesis Imperfecta]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 23, no. 2, 2006, pp. 192-4.
Wang Z, Xu DL, Hu JY, et al. [Gene mutation analysis of a Chinese family with osteogenesis imperfecta]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006;23(2):192-4.
Wang, Z., Xu, D. L., Hu, J. Y., Liao, Y. H., Yang, Z., Liang, Q., & Wang, L. T. (2006). [Gene mutation analysis of a Chinese family with osteogenesis imperfecta]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 23(2), 192-4.
Wang Z, et al. [Gene Mutation Analysis of a Chinese Family With Osteogenesis Imperfecta]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006;23(2):192-4. PubMed PMID: 16604495.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Gene mutation analysis of a Chinese family with osteogenesis imperfecta]. AU - Wang,Zhuo, AU - Xu,Dong-liang, AU - Hu,Jun-yong, AU - Liao,Yue-hua, AU - Yang,Zheng, AU - Liang,Qiong, AU - Wang,Lian-tang, PY - 2006/4/11/pubmed PY - 2009/3/25/medline PY - 2006/4/11/entrez SP - 192 EP - 4 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 - 23 IS - 2 N2 - OBJECTIVE: To study the gene mutation of collagen, type I, alpha 1 (COL1A1) associated with the clinical characterization of a Chinese family with type I osteogenesis imperfecta (OI). METHODS: Polymerase chain reaction, DNA sequencing and restriction endonuclaese analysis were used to check all the members in the family with OI and 50 normal control people for detecting the mutation of COL1A1 gene. RESULTS: A 2461G>A (G821S) mutation was found and identified in COL1A1 gene of OI patients, to whom the individual clinical characterization was displayed, however. And the other members in the family with OI and the control did not have such gene mutation as 2461G>A. CONCLUSION: The mutation of COL1A1 gene is one of the OI etiologic causes in China. There is no simple universal linkage between such gene changes and OI phenotype, but which not only involved in the OI genotype but the genetic background as well. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/16604495/[Gene_mutation_analysis_of_a_Chinese_family_with_osteogenesis_imperfecta]_ L2 - https://www.diseaseinfosearch.org/result/5451 DB - PRIME DP - Unbound Medicine ER -