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

PloS One
Yao WangJinxiang Han

Abstract

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. A CustomSeq Affymetrix Resequencing Array was established for high-throughput sequencing of five genes simultaneously. Genomic DNA extraction from 13 OI patients and 85 normal controls and amplification using long-range PCR (LR-PCR) were followed by DNA fragmentation and chip hybridization, according to standard Affymetrix protocols. Hybridization signals were determined using GeneChip Sequence Analysis Software (GSEQ). To examine the feasibility, the outcome from new resequencing approach was validated by conventional capillary sequencing method. Overall call rates using resequencing array was 96-98% and the ag...Continue Reading

References

Nov 3, 2001·Genome Research·D J CutlerA Chakravarti
Feb 13, 2004·Bioinformatics·Laurent GautierRafael A Irizarry
Apr 14, 2004·Neonatal Network : NN·Kathryn R McLean
Apr 28, 2004·Lancet·Frank Rauch, Francis H Glorieux
Sep 19, 2007·Pediatrics International : Official Journal of the Japan Pediatric Society·Kyoko KataokaHiroyuki Tanaka
Jul 16, 2008·Human Mutation·Anne HartmannPeter J Oefner
Feb 13, 2010·Human Mutation·Alexander HoischenJoris A Veltman
Feb 22, 2011·Biochemical and Biophysical Research Communications·So-Jung ChoiJhingook Kim
Mar 8, 2011·Atherosclerosis·Kuan-Rau ChiouHua-Mei Chang
Apr 12, 2011·Current Protocols in Human Genetics·Polakit TeekakirikulHeidi L Rehm
Jun 15, 2011·Nature Reviews. Endocrinology·Antonella ForlinoJoan C Marini
Sep 21, 2011·Cancer Science·Toshihide UenoHiroyuki Mano
Jan 17, 2012·Parkinsonism & Related Disorders·E J WilkinsM K Horne
Aug 10, 2012·The Journal of Molecular Diagnostics : JMD·Hilmi OzcelikKathy Siminovitch
Sep 11, 2012·BMJ Case Reports·Arvind Kumar VaishAbhishek Agarwal
Jan 11, 2013·Fetal and Pediatric Pathology·Adrienne MoulMaria M Rodriguez
Dec 19, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Trevor J PughMatthew S Lebo

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Methods Mentioned

BETA
PCR
Assay
chip
chips
antisense sequencing
array technology
genotyping

Software Mentioned

GeneChip Sequence Analysis Software ( GSEQ )
ABACUS
GSEQ

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