Article
[Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2005
Jiang Jun, Ma Hong-wei, Li Qi-wei, Lu Jun-feng, Niu Guo-hui, Zhang Li-jun, Ji Shi-jun
Abstract excerpt
OBJECTIVE: To investigate the polymorphism distribution of the PCOL2 and Sp1 binding sites of the collagen type I alpha 1(COL1A1) gene in Chinese population and explore their relationship with congenital dislocation of the hip (CDH). METHODS: The PCOL2 polymorphism (-1997 G/T) in COL1A1 promoter and the Sp1 polymorphism (1546 G/T) in intron 1 were genotyped in 243 members from 81 CDH nuclear family trios by the...
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