Jan 5, 2012

Identification of sequence variants in genetic disease-causing genes using targeted next-generation sequencing

PloS One
Xiaoming WeiJian Huang


Identification of gene variants plays an important role in research on and diagnosis of genetic diseases. A combination of enrichment of targeted genes and next-generation sequencing (targeted DNA-HiSeq) results in both high efficiency and low cost for targeted sequencing of genes of interest. To identify mutations associated with genetic diseases, we designed an array-based gene chip to capture all of the exons of 193 genes involved in 103 genetic diseases. To evaluate this technology, we selected 7 samples from seven patients with six different genetic diseases resulting from six disease-causing genes and 100 samples from normal human adults as controls. The data obtained showed that on average, 99.14% of 3,382 exons with more than 30-fold coverage were successfully detected using Targeted DNA-HiSeq technology, and we found six known variants in four disease-causing genes and two novel mutations in two other disease-causing genes (the STS gene for XLI and the FBN1 gene for MFS) as well as one exon deletion mutation in the DMD gene. These results were confirmed in their entirety using either the Sanger sequencing method or real-time PCR. Targeted DNA-HiSeq combines next-generation sequencing with the capture of sequences from ...Continue Reading

Mentioned in this Paper

Real-Time Polymerase Chain Reaction
STS gene
DMD gene
Genetic Disorders Screening
DNA Probes
Marfan Syndrome
Nucleic Acid Hybridization Procedure

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