Development of a high-throughput resequencing array for the detection of pathogenic mutations in osteogenesis imperfecta.

ABSTRACT:

Objective

Osteogenesis imperfecta (OI) is a rare inherited skeletal disease, characterized by bone fragility and low bone density. The mutations in this disorder have been widely reported to be on various exonal hotspots of the candidate genes, including COL1A1, COL1A2, CRTAP, LEPRE1, and FKBP10, thus creating a great demand for precise genetic tests. However, large genome sizes make the process daunting and the analyses, inefficient and expensive. Therefore, we aimed at developing a fast, accurate, efficient, and cheaper sequencing platform for OI diagnosis; and to this end, use of an advanced array-based technique was proposed.

Method

A CustomSeq Affymetrix Resequencing Array was established for high-throughput sequencing of five genes simultaneously. Genomic DNA extractio

SUBMITTER: Wang Y 

PROVIDER: S-EPMC4350936 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature