Abstract
Objective To screen the mutations of the promoter of COL1Al gene in the children with developmental dysplasia of the hip (DDH). Methods Transcription regulation region ( - 1024 bp ～ + 36b p) of COL1A1 gene was examined in 109 DDH patients and 100 normal controls by PCR and gene sequencing. Results A heterozygous mutation of - 106C→T was detected in the transcription regulation region of COL1Al gene in two DDH pedigrees. This substitution was not observed in 100normal individuals. Conclusions A novel heterozygous polymorphism ( - 106C>T) is identified in the transcription regulation region of COL1Al gene in patients with DDH. This polymorphism may play a role in the pathogenesis of DDH. Key words: Hip dyspasia, congenital; Hip joint,growth and development; DNA mutation analysis
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