Genetic Analysis of Osteogenesis Imperfecta in Taiwan
Date Issued
2009
Date
2009
Author(s)
Chueh, Ti-I
Abstract
Abstract Osteogenesis imperfecta (OI) is a heritable disorder of bone formation﹐which is characterized by bone fragility and low bone mass﹒As reported, Autosomal dominant OI is associated with the mutations of COL1A1 and COL1A2 genes. Autosomal recessive OI is association of CRTAP﹑LEPRE1 and PPIB gene﹒ In this study, exon-wide mutation analysis of COL1A1﹑COL1A2﹑CRTAP﹑LEPRE1and PPIB genes in osteogenesis imperfecta originated from Taiwan population by molecular diagnosis coupling several mutation detection techniques including Denaturing High Performance Liquid Chromatography (DHPLC), High-Resolution Melting analysis (HRM), and automated sequencing analysis was performed. One hundred unrelated patients and their family members diagnosed with OI clinically were enrolled in this study. Forty-six patients had mutation in COL1A1 gene﹐25 in COL1A2 gene. The mutation detection rate of COL1A1 and COL1A2 genes is 71%﹒Furthermore, 19 patients without mutation identified in COL1A1/ COL1A2 gene were analyzed for the possible mutations in CRTAP﹑LEPRE1and PPIB genes﹒One patient had mutation in PPIB gene was identified (1/19). No mutation in CRTAP or LEPRE1 gene was found. To gain more insight into the mutational spectrum in Taiwanese patients with OI﹐ we conducted this study to perform extensive exon-wide mutational analysis of COL1A1﹑COL1A2﹑CRTAP﹑LEPRE1and PPIB genes based on the high- throughput mutation scanning system with DHPLC and HRM system﹒There are several hot mutation regions in COL1A1 and COL1A2 gene had been proposed﹒However, further studies to elucidate the genotype-phenotype correlation are still warrant.ey word：Osteogenesis imperfecta﹐mutation analysis﹐COL1A1 gene﹐COL1A2 gene﹐CRTAP gene，LEPRE1 gene﹐PPIB gene﹐High-Resolution Melting analysis (HRM)﹐Denaturing High Performance Liquid Chromatography (DHPLC)
Subjects
Osteogenesis imperfecta
mutation analysis
COL1A1 gene
COL1A2 gene
CRTAP gene
LEPRE1 gene
PPIB gene
High-Resoution Melting analysis(HRM)
Denaturing High Performance Liquid Chromatography (DHPLC)
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