Whole genome amplification: abundant supplies of DNA from precious samples or clinical specimens.

Abstract Whole genome amplification methods are used to generate the large amounts of DNA that are required for genetic testing. Preparation of genomic DNA from clinical samples is a bottleneck in high-throughput genotyping and is frequently limited by the amount of specimen available. Precious DNA collections used for association and linkage analysis can be a nonrenewable resource available to only a limited number of laboratories. To address these needs, amplified DNA is now being used in a growing number of research and diagnostic applications. A new method, called multiple displacement amplification, dramatically improves the high-fidelity reproduction of genomic DNA, with 10–100 kb amplified DNA products providing uniform coverage of genes.

[1]  Pui-Yan Kwok.  Making 'random amplification' predictable in whole genome analysis. , 2002, Trends in biotechnology.

[2]  F. Dean,et al.  Rapid amplification of plasmid and phage DNA using Phi 29 DNA polymerase and multiply-primed rolling circle amplification. , 2001, Genome research.

[3]  L. Mao,et al.  Genotypic Analysis of Flow‐Sorted and Microdissected Head and Neck Squamous Lesions by Whole‐Genome Amplification , 1998, Diagnostic molecular pathology : the American journal of surgical pathology, part B.

[4]  R. Hubert,et al.  Whole genome amplification from a single cell: implications for genetic analysis. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[5]  J. Chapman,et al.  Isothermal strand-displacement amplification applications for high-throughput genomics. , 2002, Genomics.

[6]  L. Blanco,et al.  Fidelity of phi 29 DNA polymerase. Comparison between protein-primed initiation and DNA polymerization. , 1993, The Journal of biological chemistry.

[7]  S. Kingsmore,et al.  Comprehensive human genome amplification using multiple displacement amplification , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[8]  N. Carter,et al.  Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. , 1992, Genomics.

[9]  V G Cheung,et al.  Whole genome amplification using a degenerate oligonucleotide primer allows hundreds of genotypes to be performed on less than one nanogram of genomic DNA. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[10]  M. García-Closas,et al.  Collection of buccal cell DNA using treated cards. , 2000, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[11]  Trevor L Hawkins,et al.  Whole genome amplification--applications and advances. , 2002, Current opinion in biotechnology.

[12]  D. Pinkel,et al.  A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. , 2002, Human molecular genetics.

[13]  P. Lizardi,et al.  Mutation detection and single-molecule counting using isothermal rolling-circle amplification , 1998, Nature Genetics.

[14]  M. Ashburner,et al.  PCR amplification of DNA microdissected from a single polytene chromosome band: a comparison with conventional microcloning. , 1989, Nucleic acids research.

[15]  K. Weiss,et al.  Long DOP-PCR of rare archival anthropological samples. , 2000, Human biology.

[16]  Roger S Lasken,et al.  Unbiased whole-genome amplification directly from clinical samples. , 2003, Genome Research.

[17]  M. Stoneking,et al.  A whole genome amplification method to generate long fragments from low quantities of genomic DNA. , 2002, Analytical biochemistry.

[18]  David E. Housman,et al.  Genome complexity reduction for SNP genotyping analysis , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[19]  K. Mullis,et al.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. , 1988, Science.

[20]  C. Fuller,et al.  TempliPhi, phi29 DNA polymerase based rolling circle amplification of templates for DNA sequencing. , 2002, BioTechniques.

[21]  K. Kristjánsson,et al.  Preimplantation single cell analyses of dystrophin gene deletions using whole genome amplification , 1994, Nature Genetics.

[22]  C Garmendia,et al.  Highly efficient DNA synthesis by the phage phi 29 DNA polymerase , 1989 .

[23]  K. Kristjánsson,et al.  Preimplantation single-cell analysis of multiple genetic loci by whole-genome amplification. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[24]  J. Wiencke,et al.  Whole genome amplification increases the efficiency and validity of buccal cell genotyping in pediatric populations. , 2001, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[25]  Bernhard Horsthemke,et al.  Cloning defined regions of the human genome by microdissection of banded chromosomes and enzymatic amplification , 1989, Nature.

[26]  T. Paunio,et al.  Preimplantation diagnosis by whole-genome amplification, PCR amplification, and solid-phase minisequencing of blastomere DNA. , 1996, Clinical chemistry.

[27]  K. Lange,et al.  Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: do double crossovers occur during male meiosis? , 1994, American journal of human genetics.

[28]  T. Kunkel,et al.  DNA polymerase fidelity and the polymerase chain reaction. , 1991, PCR methods and applications.

[29]  D. Wells,et al.  Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification , 1998, Prenatal diagnosis.

[30]  A. Hartmann,et al.  Multiple mutation analyses in single tumor cells with improved whole genome amplification. , 1999, The American journal of pathology.

[31]  W M Barnes,et al.  PCR amplification of up to 35-kb DNA with high fidelity and high yield from lambda bacteriophage templates. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[32]  J. Delhanty,et al.  Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. , 1999, Nucleic acids research.

[33]  Daniel Pinkel,et al.  Whole genome analysis of genetic alterations in small DNA samples using hyperbranched strand displacement amplification and array-CGH. , 2003, Genome research.

[34]  N. Arnheim.  Preimplantation genetic diagnosis--a rolling stone gathers no moss! , 1992, Human reproduction.

[35]  N Risch,et al.  The Future of Genetic Studies of Complex Human Diseases , 1996, Science.