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


CONCLUSIONS
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.
Wang
Zhuo
Z
Department of Pathology, First Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510080 P.R.China.
Xu
Dong-liang
DL
Hu
Jun-yong
JY
Liao
Yue-hua
YH
Yang
Zheng
Z
Liang
Qiong
Q
Wang
Lian-tang
LT
D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D004252:DNA Mutational Analysis; D006801:Humans; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D010375:Pedigree
D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain