Gene mutation analysis of a Chinese family with osteogenesis imperfecta.
- Author:
Zhuo WANG
1
;
Dong-liang XU
;
Jun-yong HU
;
Yue-hua LIAO
;
Zheng YANG
;
Qiong LIANG
;
Lian-tang WANG
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Base Sequence; China; Collagen Type I; genetics; DNA Mutational Analysis; Humans; Mutation; Osteogenesis Imperfecta; genetics; Pedigree
- From: Chinese Journal of Medical Genetics 2006;23(2):192-194
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo 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).
METHODSPolymerase 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.
RESULTSA 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.
CONCLUSIONThe 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.
