Tags

Type your tag names separated by a space and hit enter

[Mutation analysis and prenatal diagnosis of COL1A1 gene in a Chinese family with type I osteogenesis imperfecta].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Dec; 31(6):730-2.ZY

Abstract

OBJECTIVE

To detect mutation of COL1A1 gene in a Chinese family affected with type I osteogenesis imperfecta (OI) and to provide prenatal diagnosis for a fetus at 17th gestational week.

METHODS

Polymerase chain reaction, DNA sequencing and restriction endonuclease analysis were used to verify the detected mutation among other members of the family and 100 healthy controls.

RESULTS

No mutation has been detected in the COL1A2 gene in all of the subjects. A heterozygous mutation c.104-1G>C was identified in the COL1A1 gene among all patients from this family. The same mutation was not found in other members from the family and the 100 healthy controls. The mutation was not found in the fetus, and was verified to be a new mutation according to the type I collagen mutation database.

CONCLUSION

The c.104-1G>C mutation of the COL1A1 gene probably underlies the type I osteogenesis imperfecta in this family. Under the premise of a clear genetic diagnosis, prenatal diagnosis may be provided to reduce the risk for the disease.

Authors+Show Affiliations

Henan Medical Genetics Institute, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, P. R. China. ychslshx@126.com.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

chi

PubMed ID

25449076

Citation

Zhang, Hui, et al. "[Mutation Analysis and Prenatal Diagnosis of COL1A1 Gene in a Chinese Family With Type I Osteogenesis Imperfecta]." Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, vol. 31, no. 6, 2014, pp. 730-2.
Zhang H, Wu D, Hou Q, et al. [Mutation analysis and prenatal diagnosis of COL1A1 gene in a Chinese family with type I osteogenesis imperfecta]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014;31(6):730-2.
Zhang, H., Wu, D., Hou, Q., Liu, Z., Qin, L., & Liao, S. (2014). [Mutation analysis and prenatal diagnosis of COL1A1 gene in a Chinese family with type I osteogenesis imperfecta]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 31(6), 730-2. https://doi.org/10.3760/cma.j.issn.1003-9406.2014.06.010
Zhang H, et al. [Mutation Analysis and Prenatal Diagnosis of COL1A1 Gene in a Chinese Family With Type I Osteogenesis Imperfecta]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014;31(6):730-2. PubMed PMID: 25449076.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Mutation analysis and prenatal diagnosis of COL1A1 gene in a Chinese family with type I osteogenesis imperfecta]. AU - Zhang,Hui, AU - Wu,Dong, AU - Hou,Qiaofang, AU - Liu,Zhiyou, AU - Qin,Litao, AU - Liao,Shixiu, PY - 2014/12/3/entrez PY - 2014/12/3/pubmed PY - 2015/3/25/medline SP - 730 EP - 2 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 - 31 IS - 6 N2 - OBJECTIVE: To detect mutation of COL1A1 gene in a Chinese family affected with type I osteogenesis imperfecta (OI) and to provide prenatal diagnosis for a fetus at 17th gestational week. METHODS: Polymerase chain reaction, DNA sequencing and restriction endonuclease analysis were used to verify the detected mutation among other members of the family and 100 healthy controls. RESULTS: No mutation has been detected in the COL1A2 gene in all of the subjects. A heterozygous mutation c.104-1G>C was identified in the COL1A1 gene among all patients from this family. The same mutation was not found in other members from the family and the 100 healthy controls. The mutation was not found in the fetus, and was verified to be a new mutation according to the type I collagen mutation database. CONCLUSION: The c.104-1G>C mutation of the COL1A1 gene probably underlies the type I osteogenesis imperfecta in this family. Under the premise of a clear genetic diagnosis, prenatal diagnosis may be provided to reduce the risk for the disease. SN - 1003-9406 UR - https://www.unboundmedicine.com/medline/citation/25449076/[Mutation_analysis_and_prenatal_diagnosis_of_COL1A1_gene_in_a_Chinese_family_with_type_I_osteogenesis_imperfecta]_ L2 - http://www.diseaseinfosearch.org/result/5451 DB - PRIME DP - Unbound Medicine ER -