Two methods of whole-genome amplification enable accurate genotyping across a 2320-SNP linkage panel

被引:153
作者
Barker, DL
Hansen, MST
Faruqi, AF
Giannola, D
Irsula, OR
Lasken, RS
Latterich, M
Makarov, V
Oliphant, A
Pinter, JH
Shen, R
Sleptsova, I
Ziehler, W
Lai, E [1 ]
机构
[1] GlaxoSmithKline, Genet Res, Res Triangle Pk, NC 27709 USA
[2] Illumina Inc, San Diego, CA USA
[3] Mol Staging Inc, New Haven, CT 06511 USA
[4] Rubicon Genom, Ann Arbor, MI 48108 USA
关键词
D O I
10.1101/gr.1949704
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Comprehensive genome scans involving many thousands of SNP assays will require significant amounts of genomic DNA from each sample. We report two successful methods for amplifying whole-genomic DNA prior to SNP analysis, multiple displacement amplification, and OmniPlex technology. We determined the coverage of amplification by analyzing a SNP linkage marker set that contained 2320 SNP markers spread across the genome at an average distance of 2.5 cM. We observed a concordance of >99.8% in genotyping results from genomic DNA and amplified DNA, strongly indicating the ability of both methods used to amplify genomic DNA in a highly representative manner. Furthermore, we were able to achieve a SNP call rate of >98% in both genomic and amplified DNA. The combination of whole-genome amplification and comprehensive SNP linkage analysis offers new opportunities for genetic analysis in clinical trials, disease association studies, and archiving of DNA samples.
引用
收藏
页码:901 / 907
页数:7
相关论文
共 24 条
[1]   PicoGreen quantitation of DNA: Effective evaluation of samples pre- or post-PCR [J].
Ahn, SJ ;
Costa, J ;
Emanuel, JR .
NUCLEIC ACIDS RESEARCH, 1996, 24 (13) :2623-2625
[2]   Self-assembled random arrays: High-performance imaging and genomics applications on a high-density microarray platform [J].
Barker, DL ;
Theriault, G ;
Che, DP ;
Dickinson, T ;
Shen, R ;
Kain, R .
MICROARRAYS AND COMBINATORIAL TECHNOLOGIES FOR BIOMEDICAL APPLICATIONS: DESIGN, FABRICATION, AND ANALYSIS, 2003, 4966 :1-11
[3]   A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications [J].
Buckley, PG ;
Mantripragada, KK ;
Benetkiewicz, M ;
Tapia-Páez, I ;
de Ståhl, TD ;
Rosenquist, M ;
Ali, H ;
Jarbo, C ;
de Bustos, C ;
Hirvelä, C ;
Wilén, BS ;
Fransson, I ;
Thyr, C ;
Johnsson, BI ;
Bruder, CEG ;
Menzel, U ;
Hergersberg, M ;
Mandahl, N ;
Blennow, E ;
Wedell, A ;
Beare, DM ;
Collins, JE ;
Dunham, I ;
Albertson, D ;
Pinkel, D ;
Bastian, BC ;
Faruqi, AF ;
Lasken, RS ;
Ichimura, K ;
Collins, VP ;
Dumanski, JP .
HUMAN MOLECULAR GENETICS, 2002, 11 (25) :3221-3229
[4]   Whole genome amplification using a degenerate oligonucleotide primer allows hundreds of genotypes to be performed on less than one nanogram of genomic DNA [J].
Cheung, VG ;
Nelson, SF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1996, 93 (25) :14676-14679
[5]   Comprehensive human genome amplification using multiple displacement amplification [J].
Dean, FB ;
Hosono, S ;
Fang, LH ;
Wu, XH ;
Faruqi, AF ;
Bray-Ward, P ;
Sun, ZY ;
Zong, QL ;
Du, YF ;
Du, J ;
Driscoll, M ;
Song, WM ;
Kingsmore, SF ;
Egholm, M ;
Lasken, RS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2002, 99 (08) :5261-5266
[6]   Rapid amplification of plasmid and phage DNA using phi29 DNA polymerase and multiply-primed rolling circle amplification [J].
Dean, FB ;
Nelson, JR ;
Giesler, TL ;
Lasken, RS .
GENOME RESEARCH, 2001, 11 (06) :1095-1099
[7]  
FAN JB, 2003, IN PRESS COLD SPR HA, V68
[8]   Chromosome paints from single copies of chromosomes [J].
Gribble, S ;
Ng, BL ;
Prigmore, E ;
Burford, DC ;
Carter, NP .
CHROMOSOME RESEARCH, 2004, 12 (02) :143-151
[9]   Genetic polymorphism of the MxA gene promoter and interferon responsiveness of hepatitis C patients:: Revisited by analyzing two SNP sites (-123 and-88) in vivo and in vitro [J].
Hijikata, M ;
Mishiro, S ;
Miyamoto, C ;
Furuichi, Y ;
Hashimoto, M ;
Ohta, Y .
INTERVIROLOGY, 2001, 44 (06) :379-382
[10]   Unbiased whole-genome amplification directly from clinical samples [J].
Hosono, S ;
Faruqi, AF ;
Dean, FB ;
Du, YF ;
Sun, ZY ;
Wu, XH ;
Du, J ;
Kingsmore, SF ;
Egholm, M ;
Lasken, RS .
GENOME RESEARCH, 2003, 13 (05) :954-964