Array CGH using whole genome amplification of fresh-frozen and formalin-fixed, paraffin-embedded tumor DNA.

Abstract:

:The ability to utilize formalin-fixed, paraffin-embedded (FFPE) archival specimens reliably for high-resolution molecular genetic analysis would be of immense practical application in the study of human disease. We have evaluated the ability of the GenomePlex whole genome amplification (WGA) kit to amplify frozen and FFPE tissue for use in array CGH (aCGH). GenomePlex gave highly representative data compared with unamplified controls both from frozen material (Pearson's R(2) = 0.898) and from FFPE (R(2) = 0.883). Artifactual amplification observed using DOP-PCR at chromosomes 1p, 3, 13q, and 16p was not seen with GenomePlex. Highly reproducible aCGH profiles were obtained using as little as 5 ng starting material from FFPE (R(2) = 0.918). This WGA method should readily lend itself to the determination of DNA copy number alterations from small fresh-frozen and FFPE clinical tumor specimens, although some care must be taken to optimize the DNA extraction procedure.

journal_name

Genomics

journal_title

Genomics

authors

Little SE,Vuononvirta R,Reis-Filho JS,Natrajan R,Iravani M,Fenwick K,Mackay A,Ashworth A,Pritchard-Jones K,Jones C

doi

10.1016/j.ygeno.2005.09.019

subject

Has Abstract

pub_date

2006-02-01 00:00:00

pages

298-306

issue

2

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(05)00278-8

journal_volume

87

pub_type

杂志文章

相关文献

GENOMICS文献大全
  • Complete structural organization of the human alpha 1 (V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes.

    abstract::Genes that encode the vertebrate fibrillar collagen types I-III have previously been shown to share a highly conserved intron/exon organization, thought to reflect common ancestry and evolutionary pressures at the protein level. We report here the complete intron/exon organization of COL5A1, the human gene that encode...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1995.9961

    authors: Takahara K,Hoffman GG,Greenspan DS

    更新日期:1995-10-10 00:00:00

  • Characterization of the cDNA coding for mouse plasminogen and localization of the gene to mouse chromosome 17.

    abstract::A full-length cDNA coding for mouse plasminogen has been isolated and characterized. The cDNA is 2720 bp in length (excluding the poly(A) tail) and contains a 24-bp 5' noncoding region, an open reading frame of 2436 bp, and a 3' noncoding region of 257 bp. The open reading frame codes for 812 amino acids and includes ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(90)90225-j

    authors: Degen SJ,Bell SM,Schaefer LA,Elliott RW

    更新日期:1990-09-01 00:00:00

  • The human ICAM2 gene maps to 17q23-25.

    abstract::The intercellular adhesion molecules ICAM1 and ICAM2 are the cell-surface ligands for the lymphocyte function-associated antigen LFA-1 (CD11a/CD18) and are thought to mediate cell-cell adhesion interactions required by the immune system. However, differences in tissue distribution, inducibility of expression, and over...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(91)90157-a

    authors: Sansom D,Borrow J,Solomon E,Trowsdale J

    更新日期:1991-10-01 00:00:00

  • Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panel.

    abstract::A somatic cell hybrid panel, consisting of 25 cell lines, has been developed to localize loci subregionally on chromosome 22. Over 300 markers in the form of STSs or hybridization probes have been assigned to one of 24 unique regions or "bins" using this panel. This ordered collection of markers will aid in the assemb...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0358

    authors: Budarf ML,Eckman B,Michaud D,McDonald T,Gavigan S,Buetow KH,Tatsumura Y,Liu Z,Hilliard C,Driscoll D,Goldmuntz E,Meese E,Zwarthoff EC,Williams S,McDermid H,Dumanski JP,Biegel J,Bell CJ,Emanuel BS

    更新日期:1996-07-15 00:00:00

  • Beware of using small statistical samples when assessing the quality of a DNA library.

    abstract::DNA libraries often contain very large numbers of clones (from 1000 up to 700,000). Since at present it is impossible to analyze all of these clones, usually statistical samples comprising less than 100 clones are tested. The quality of the library is then assessed by linear extrapolation. Occasionally, full coverage ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1994.1476

    authors: Köllner M,Greulich KO

    更新日期:1994-09-01 00:00:00

  • A genomic region encompassing a cluster of olfactory receptor genes and a myosin light chain kinase (MYLK) gene is duplicated on human chromosome regions 3q13-q21 and 3p13.

    abstract::The olfactory receptor (OR) multigene family is widely distributed in the human genome. We characterize here a new cluster of four OR genes (HGMW-approved symbols OR7E20P, OR7E6P, OR7E21P, and OR7E22P) on human chromosome 3p13 that is contained in an approximately 250-kb region. This region has been physically mapped,...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5690

    authors: Brand-Arpon V,Rouquier S,Massa H,de Jong PJ,Ferraz C,Ioannou PA,Demaille JG,Trask BJ,Giorgi D

    更新日期:1999-02-15 00:00:00

  • BHLHB4 is a bHLH transcriptional regulator in pancreas and brain that marks the dimesencephalic boundary.

    abstract::We have cloned a basic helix-loop-helix (bHLH) factor gene, Bhlhb4, from a mouse beta-cell line. Fluorescence in situ hybridization (FISH) and genetic mapping place Bhlhb4 at the telomeric end of mouse chromosome 2 (H3-H4), syntenic to human chromosome 20q13. Based on phylogenetic analysis, BHLHB4 belongs to a new sub...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2002.6708

    authors: Bramblett DE,Copeland NG,Jenkins NA,Tsai MJ

    更新日期:2002-03-01 00:00:00

  • Structural organization and expression patterns of the human and mouse genes for the type I procollagen COOH-terminal proteinase enhancer protein.

    abstract::The procollagen C-proteinase enhancer (PCPE) is a glycoprotein that potentiates enzymatic cleavage of the type I procollagen C-propeptide by bone morphogenetic protein-1 (BMP-1). The human PCPE gene (PCOLCE) was previously mapped to 7q22, an area frequently disrupted in uterine leiomyomata, while disruption of the rat...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5663

    authors: Scott IC,Clark TG,Takahara K,Hoffman GG,Greenspan DS

    更新日期:1999-01-15 00:00:00

  • Transposition, amplification, and divergence in the origin of the DNF15 loci, a polymorphic repetitive sequence family on chromosomes 1 and 3.

    abstract::The loci DNF15S1 and DNF15S2 are members of a small repetitive sequence family at discrete chromosomal locations, namely, 1p36 and 3p21, respectively. Studies of the structure, arrangement, and interrelations of the family suggest that the single copy on chromosome 3 is the original member and that this gave rise to t...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(89)90005-0

    authors: Welch HM,Darby JK,Pilz AJ,Ko CM,Carritt B

    更新日期:1989-10-01 00:00:00

  • The human glutamate dehydrogenase gene family: gene organization and structural characterization.

    abstract::Glutamate dehydrogenase is a mitochondrially located, key metabolic enzyme. In addition to its general metabolic role, GLUD is important in neurotransmission. Significant alterations in GLUD enzymatic activity have been associated with certain neurodegenerative human disorders. Although a single species of human GLUD ...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1993.1152

    authors: Michaelidis TM,Tzimagiorgis G,Moschonas NK,Papamatheakis J

    更新日期:1993-04-01 00:00:00

  • The generation of a library of PCR-analyzed microsatellite variants for genetic mapping of the mouse genome.

    abstract::Forty-three sequences containing simple sequence repeats or microsatellites were generated from an M13 library of total genomic mouse DNA. These sequences were analyzed for size variation using the polymerase chain reaction and gel electrophoresis without the need for radiolabeling. Seventy-two percent of the sequence...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(91)90175-e

    authors: Cornall RJ,Aitman TJ,Hearne CM,Todd JA

    更新日期:1991-08-01 00:00:00

  • BMT: Bioinformatics mini toolbox for comprehensive DNA and protein analysis.

    abstract::Background Bioinformatics tools are of great significance and are used in different spheres of life sciences. There are wide variety of tools available to perform primary analysis of DNA and protein but most of them are available on different platforms and many remain undetected. Accessing these tools separately to pe...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2020.08.010

    authors: Iqbal MN,Rasheed MA,Awais M,Chammam W,Kanwal S,Khan SU,Saddick S,Tlili I

    更新日期:2020-11-01 00:00:00

  • Organization of the human beta-adducin gene (ADD2).

    abstract::The intron-exon organization of the human beta-adducin gene (ADD2) has been determined from overlapping genomic clones. The gene spans over 100 kb on chromosome 2p13 and comprises 17 exons. Seven of the exons are identical in size to the corresponding exons of the alpha-adducin gene (4p16.3), suggesting gene duplicati...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4802

    authors: Gilligan DM,Lozovatsky L,Silberfein A

    更新日期:1997-07-15 00:00:00

  • Chromosomal mapping of five highly conserved murine homologues of the Drosophila RING finger gene seven-in-absentia.

    abstract::Seven-in-absentia (sina) is epistatic to all other known genes in the sevenless-ras signaling pathway, which mediates R7 photoreceptor formation in the Drosophila eye. The murine genome contains several closely related sina homologues (Siah1A-D, Siah2) that are also likely to participate in ras signaling. As part of a...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4642

    authors: Holloway AJ,Della NG,Fletcher CF,Largespada DA,Copeland NG,Jenkins NA,Bowtell DD

    更新日期:1997-04-15 00:00:00

  • A single segment substitution line population for identifying traits relevant to drought tolerance and avoidance.

    abstract::A population of chromosome segment substitution lines was developed using KDML105 as the recurrent parent and one of DH212 (IR68586-F2-CA-143) or DH103 (IR68586-F2-CA-31) as the donor parent. The donor parents are part of a doubled haploid population from a cross between CT9993, an upland japonica accession, and IR622...

    journal_title:Genomics

    pub_type: 杂志文章,评审

    doi:10.1016/j.ygeno.2019.10.001

    authors: Shearman JR

    更新日期:2019-10-31 00:00:00

  • Amplification of CFTR exon 9 sequences to multiple locations in the human genome.

    abstract::Cloning and characterization of the cystic fibrosis transmembrane conductance regulator (CFTR) gene led to the identification and isolation of cDNA and genomic sequences that cross-hybridized to the first nucleotide binding fold of CFTR. DNA sequence analysis of these clones showed that the cross-hybridizing sequences...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4968

    authors: Rozmahel R,Heng HH,Duncan AM,Shi XM,Rommens JM,Tsui LC

    更新日期:1997-11-01 00:00:00

  • A comparison of gene expression profiles produced by SAGE, long SAGE, and oligonucleotide chips.

    abstract::A comparison study of short SAGE versus GeneChip and long SAGE was conducted to determine if data were interchangeable between the techniques. Although SAGE and Affymetrix chip expression levels showed a significant correlation using the set of genes for which there was reliable and unambiguous mapping from tag-to-gen...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2004.06.014

    authors: Lu J,Lal A,Merriman B,Nelson S,Riggins G

    更新日期:2004-10-01 00:00:00

  • Use of the Indian muntjac idiogram to align conserved chromosomal segments in sheep and human genomes by chromosome painting.

    abstract::We have hybridized all 28 chromosome-specific painting probes from the domestic sheep (Ovis aries, 2n = 54) onto metaphase chromosomes of the Indian muntjac deer (Muntiacus muntjak vaginalis, 2n = 6,7) and identified 35 conserved chromosomal segments. Results from this study show that most of the sheep acrocentric chr...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4998

    authors: Burkin DJ,Yang F,Broad TE,Wienberg J,Hill DF,Ferguson-Smith MA

    更新日期:1997-11-15 00:00:00

  • Use of AFLP markers for gene mapping and QTL detection in the rat.

    abstract::The AFLP technique is a new DNA marker technology based on the selective amplification of restriction fragments. Multiple polymorphic markers are simultaneously produced and can be tested in one PCR. No prior information on genomic DNA sequences is needed. In the current study, we contribute 18 AFLP markers to the lin...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0562

    authors: Otsen M,den Bieman M,Kuiper MT,Pravenec M,Kren V,Kurtz TW,Jacob HJ,Lankhorst A,van Zutphen BF

    更新日期:1996-11-01 00:00:00

  • A nonsense mutation in the optic atrophy 3 gene (OPA3) causes dilated cardiomyopathy in Red Holstein cattle.

    abstract::Cardiomyopathies are severe degenerative disorders of the myocardium that lead to heart failure. During the last three decades bovine dilated cardiomyopathy (BDCMP) was observed worldwide in cattle of Holstein-Friesian origin. In the Swiss cattle population BDCMP affects Fleckvieh and Red Holstein breeds. The heart of...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2010.09.005

    authors: Owczarek-Lipska M,Plattet P,Zipperle L,Drögemüller C,Posthaus H,Dolf G,Braunschweig MH

    更新日期:2011-01-01 00:00:00

  • Conserved interactions of a compact highly active enhancer/promoter upstream of the rhodopsin kinase (GRK1) gene.

    abstract::Rhodopsin kinase (RK) is a conserved component of the light adaptation and recovery pathways shared among rod and cone photoreceptors of a variety of species. To gain insight into transcriptional mechanisms driving RK and potentially other genes of similar spatial profile, the components and the interactions of the hi...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2007.03.004

    authors: Young JE,Kasperek EM,Vogt TM,Lis A,Khani SC

    更新日期:2007-08-01 00:00:00

  • Detection of obesity QTLs on mouse chromosomes 1 and 7 by selective DNA pooling.

    abstract::The inheritance of obesity has been analyzed in an intercross between the lean 129/Sv mouse strain and the obesity-prone EL/Suz mouse strain. The weights of three major fat pads were determined on 4-month-old mice, and the sum of these weights, divided by body weight, was used as an adiposity index. The strategy of se...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1996.0302

    authors: Taylor BA,Phillips SJ

    更新日期:1996-06-15 00:00:00

  • Tight linkage between type III Gaucher's disease (Norrbottnian type) and a MspI polymorphism within the gene for human glucocerebrosidase.

    abstract::A MspI polymorphism was detected in the beta-glucocerebrosidase gene in 10 Swedish families affected by type III Gaucher's disease. The sizes of the polymorphic fragments were 1.70 and 1.75 kb and the disease was found to segregate with the 1.70-kb fragment in 32 meioses. Only the 1.75-kb fragment was detected in fami...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/0888-7543(88)90118-8

    authors: Dahl N,Erikson A,Hammarström-Heeroma K,Pettersson U

    更新日期:1988-11-01 00:00:00

  • Isolation, characterization, and mapping of the mouse and human WDR8 genes, members of a novel WD-repeat gene family.

    abstract::The Trp-Asp (WD) motif has been shown to exist in a number of proteins. Genes containing repeats of the WD motif compose a large gene family associated with a variety of cellular functions and can be divided into a number of functional subfamilies. By means of the differential display method using ttw, a mouse model f...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.2000.6475

    authors: Koshizuka Y,Ikegawa S,Sano M,Nakamura K,Nakamura Y

    更新日期:2001-03-15 00:00:00

  • Cloning, human chromosomal assignment, and adipose and hepatic expression of the CL-6/INSIG1 gene.

    abstract::Rat CL-6 is the most highly insulin-induced gene in a liver cell line and is expressed in proliferating liver during regeneration and development. CL-6 is now denoted INSIG1 (insulin-induced gene 1). Human INSIG1 was isolated and found to be 80% identical to the rat gene within the translated region. It was located on...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1997.4821

    authors: Peng Y,Schwarz EJ,Lazar MA,Genin A,Spinner NB,Taub R

    更新日期:1997-08-01 00:00:00

  • Distribution of DNA methylation, CpGs, and CpG islands in human isochores.

    abstract::DNA methylation is a major epigenetic modification of the genome that affects basic biological functions, such as gene expression and cell development. We used the human genome sequences and the DNA methylation data that are available in order to establish a map of the levels of GC and methylation in isochores. We als...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2009.09.006

    authors: Varriale A,Bernardi G

    更新日期:2010-01-01 00:00:00

  • Sole head transcriptomics reveals a coordinated developmental program during metamorphosis.

    abstract::Most teleosts undergo a thyroid hormone (TH) regulated larval to juvenile transition known as metamorphosis. In Pleuronectiformes (flatfish), metamorphosis is most dramatic, and one eye of the symmetric pelagic larvae migrates to the opposite side of the head, giving rise to an asymmetric benthic juvenile with both ey...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2019.04.011

    authors: Louro B,Marques JP,Manchado M,Power DM,Campinho MA

    更新日期:2020-01-01 00:00:00

  • mnd2: a new mouse model of inherited motor neuron disease.

    abstract::The autosomal recessive mutation mnd2 results in early onset motor neuron disease with rapidly progressive paralysis, severe muscle wasting, regression of thymus and spleen, and death before 40 days of age. mnd2 has been mapped to mouse chromosome 6 with the gene order: centromere-Tcrb-Ly-2-Sftp-3-D6Mit4-mnd2-D6Mit 6,...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1993.1246

    authors: Jones JM,Albin RL,Feldman EL,Simin K,Schuster TG,Dunnick WA,Collins JT,Chrisp CE,Taylor BA,Meisler MH

    更新日期:1993-06-01 00:00:00

  • MSG1 (melanocyte-specific gene 1): mapping to chromosome Xq13.1, genomic organization, and promoter analysis.

    abstract::MSG1 (melanocyte-specific gene 1) is a recently isolated gene predominantly expressed in cultured normal melanocytes and pigmented melanoma cells. MSG1 encodes a 27-kDa nuclear protein that has strong intrinsic transcriptional transactivating activity. In this report, the human MSG1 gene was mapped to chromosome Xq13....

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1006/geno.1998.5383

    authors: Fenner MH,Parrish JE,Boyd Y,Reed V,MacDonald M,Nelson DL,Isselbacher KJ,Shioda T

    更新日期:1998-08-01 00:00:00

  • Identification and functional characterization of methyl-CpG binding domain protein from Tribolium castaneum.

    abstract::Methyl-CpG binding domain proteins (MBD) can specifically bind to methylated CpG sites and play important roles in epigenetic gene regulation. Here, we identified and functionally characterized the MBD protein in Tribolium castaneum. T. castaneum genome encodes only one MBD protein: TcMBD2/3. RNA interference targetin...

    journal_title:Genomics

    pub_type: 杂志文章

    doi:10.1016/j.ygeno.2019.12.018

    authors: Song X,Zhang Y,Zhong Q,Zhan K,Bi J,Tang J,Xie J,Li B

    更新日期:2020-05-01 00:00:00