[Gene mutation analysis of a Chinese family with osteogenesis imperfecta].

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: Zhuo Wang, Dong-liang Xu, Jun-yong Hu, Yue-hua Liao, Zheng Yang, Qiong Liang, Lian-tang Wang
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 23 Issue 2 Pg. 192-4 (Apr 2006) ISSN: 1003-9406 [Print] China
• PMID: 16604495 (Publication Type: Journal Article)

Chemical References

• Collagen Type I
• Collagen Type I, alpha 1 Chain

Topics

• Asian People (genetics)
• Base Sequence
• China
• Collagen Type I (genetics)
• Collagen Type I, alpha 1 Chain
• DNA Mutational Analysis
• Humans
• Mutation
• Osteogenesis Imperfecta (genetics)
• Pedigree