13.07.2015 Views

The Genom of Homo sapiens.pdf

The Genom of Homo sapiens.pdf

The Genom of Homo sapiens.pdf

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

HUMAN GENOME SCANNING 329methods for validation <strong>of</strong> detected gains and losses in thesecond or even third screen will be necessary to efficientlyeliminate false-positive detection. For genomicregions that heavily cross-hybridize, it will be necessaryto develop specific arrays with unique DNA fragments tocompensate for potential false-negative detection in theseregions in the whole-genome BAC array screening.ACKNOWLEDGMENTSWe thank Qian Li for technical help in array production,Dr. Wei Yu for providing the 1p contig arrays, Dr. RueChen for the updated BAC clone position information,and Dr. Sau Wai Cheung for advice on result validation.This work was supported by a grant from the Mental RetardationResearch Center <strong>of</strong> Baylor College <strong>of</strong> Medicine.REFERENCESBeheshti B., Braude I., Marrano P., Thorner P., Zielenska M.,and Squire J.A. 2003. Chromosomal localization <strong>of</strong> DNA amplificationsin neuroblastoma tumors using cDNA microarraycomparative genomic hybridization. Neoplasia 5: 53.Brewer C., Holloway S., Zawalnyski P., Schinzel A., and Fitz-Patrick D. 1998. A chromosomal deletion map <strong>of</strong> human malformations.Am. J. Hum. Genet. 63: 1153._______ . 1999. A chromosomal duplication map <strong>of</strong> malformations:Regions <strong>of</strong> suspected haplo- and triplolethality—andtolerance <strong>of</strong> segmental aneuploidy—in humans. Am. J. Hum.Genet. 64: 1702.Cai W.W., Mao J.H., Chow C.W., Damani S., Balmain A., andBradley A. 2002. <strong>Genom</strong>e-wide detection <strong>of</strong> chromosomalimbalances in tumors using BAC microarrays. Nat. Biotechnol.20: 393.Cheung V.G., Dalrymple H.L., Narasimhan S., Watts J., SchulerG., Raap A.K., Morley M., and Bruzel A. 1999. A resource <strong>of</strong>mapped human bacterial artificial chromosome clones.<strong>Genom</strong>e Res. 9: 989.Cheung V.G., Nowak N., Jang W., Kirsch I.R., Zhao S., ChenX.-N., Furey T.S., Kim U.-J., Kuo W.-L., Olivier M., ConroyJ., Kasprzyk A., Massa H., Yonescu R., Sait S., Thoreen C.,Snijders A., Lemyre E., Bailey J.A., Bruzel A., Burrill W.D.,Clegg S.M., Collins S., Dhami P., and Friedman C., et al.2001. Integration <strong>of</strong> cytogenetic landmarks into the draft sequence<strong>of</strong> the human genome. Nature 409: 953.Dean F.B., Hosono S., Fang L., Wu X., Faruqi A.F., Bray-WardP., Sun Z., Zong Q., Du Y., Du J., Driscoll M., Song W.,Kingsmore S.F., Egholm M., and Lasken R.S. 2002. Comprehensivehuman genome amplification using multiple displacementamplification. Proc. Natl. Acad. Sci. 99: 5261.Emmert-Buck M.R., Bonner R.F., Smith P.D., Chuaqui R.F.,Zhuang Z., Goldstein S.R., Weiss R.A., and Liotta LA. 1996.Laser capture microdissection. Science 274: 998.Fare T.L., C<strong>of</strong>fey E.M., Dai H., He Y.D., Kessler D.A., KilianK.A., Koch J.E., LeProust E., Marton M.J., Meyer M.R.,Soughton R.B., Tokiwa G.Y., and Wang Y. 2003. Effects <strong>of</strong>atmospheric ozone on microarray data quality. Anal. Chem.75: 4672.Flint J., Wilkie A.O.M., Buckle V., Winter R.M., Holland A.J.,and McDermid H.E. 1995. <strong>The</strong> detection <strong>of</strong> subtelomericchromosomal rearrangements in idiopathic mental retardation.Nat. Genet. 9: 132.Gardner R.J.M. and Sutherland G.R. 1996. Chromosome abnormalitiesand genetic counseling, 2nd edition. Oxford UniversityPress, Oxford, United Kingdom.Heiskanen M.A., Bittner M.L., Chen Y., Khan J., Adler K.E.,Trent J.M., and Meltzer P.S. 2000. Detection <strong>of</strong> gene amplificationby genomic hybridization to cDNA microarrays. CancerRes. 60: 799.Kallioniemi A., Kallioniemi O.P., Sudar D., Rutovitz D., GrayJ.W., Waldman F., and Pinkel D. 1992. Comparative genomichybridization for molecular cytogenetic analysis <strong>of</strong> solid tumors.Science 258: 818.Klein C.A., Schmidt-Kittler O., Schardt J.A., Pantel K., SpeicherM.R., and Riethmuller G. 1999. Comparative genomic hybridization,loss <strong>of</strong> heterozygosity, and DNA sequence analysis<strong>of</strong> single cells. Proc. Natl. Acad. Sci. 96: 4494.Knight S.J.L., Regan R., Nicod A., Horsley S.W., Kearney L.,Homfray T., Winter R.M., Bolton P., and Flint J. 1999. Subtlechromosomal rearrangements in children with unexplainedmental retardation. Lancet 354: 1676.Korenberg J.R., Chen X.N., Sun Z., Shi Z.Y., Ma S., Vataru E.,Yimlamai D., Weissenbach J.S., Shizuya H., Simon M.I.,Gerety S.S., Nguyen H., Zemsteva I.S., Hui L., Silva J., WuX., Birren B.W., and Hudson T.J. 1999. Human genomeanatomy: BACs integrating the genetic and cytogenetic mapsfor bridging genome and biomedicine. <strong>Genom</strong>e Res. 9: 994.Lage J.M., Leamon J.H., Pejovic T., Hamann S., Lacey M., DillonD., Segraves R., Vossbrinck B., Gonzalez A., Pinkel D.,Albertson D.G., Costa J., and Lizardi P.M. 2003. Wholegenome analysis <strong>of</strong> genetic alterations in small DNA samplesusing hyperbranched strand displacement amplification andarray-CGH. <strong>Genom</strong>e Res. 13: 294.Lander E.S., Linton L.M., Birren B., Nusbaum C., Zody M.C.,Baldwin J., Devon K., Dewar K., Doyle M., FitzHugh W.,Funke R., Gage D., Harris K., Heaford A., Howland J., KannL., Lehoczky J., LeVine R., McEwan P., McKernan K.,Meldrim J., Mesirov J.P., Miranda C., Morris W., and NaylorJ., et al. (International Human <strong>Genom</strong>e Sequencing Consortium).2001. Initial sequencing and analysis <strong>of</strong> the humangenome. Nature 409: 860.McPherson J.D., Marra M., Hillier L., Waterston R.H., ChinwallaA., Wallis J., Sekhon M., Wylie K., Mardis E.R., WilsonR.K., Fulton R., Kucaba T.A., Wagner-McPherson C.,Barbazuk W.B., Gregory S.G., Humphray S.J., French L.,Evans R.S., Bethel G., Whittaker A., Holden J.L., McCannO.T., Dunham A., Soderlund C., and Scott C.E., et al. (InternationalHuman <strong>Genom</strong>e Mapping Consortium). 2001. Aphysical map <strong>of</strong> the human genome. Nature 409: 934.Pinkel D., Segraves R., Sudar D., Clark S., Poole I., Kowbel D.,Collins C., Kuo W.L., Chen C., Zhai Y., Dairkee S.H., LjungB.M., Gray J.W., and Albertson D.G. 1998. High resolutionanalysis <strong>of</strong> DNA copy number variation using comparativegenomic hybridization to microarrays. Nat. Genet. 20: 207.Pollack J.R., Perou C.M., Alizadeh A.A., Eisen M.B., PergamenschikovA., Williams C.F., Jeffrey S.S., Botstein D., andBrown P.O. 1999. <strong>Genom</strong>e-wide analysis <strong>of</strong> DNA copy-numberchanges using cDNA microarrays. Nat. Genet. 23: 41.Schena M., Shalon D., Davis R.W., and Brown P.O. 1995.Quantitative monitoring <strong>of</strong> gene expression patterns with acomplementary DNA microarray. Science 270: 467.Shapira S.K. 1998. An update on chromosome deletion and microdeletionsyndromes. Curr. Opin. Pediatr. 10: 622.Telenius H., Carter N.P., Bebb C.E., Nordenskjold M., PonderB.A., and Tunnacliffe A. 1992. Degenerate oligonucleotideprimedPCR: General amplification <strong>of</strong> target DNA by a singledegenerate primer. <strong>Genom</strong>ics. 13: 718.Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., SuttonG.G., Smith H.O., Yandell M., Evans C.A., Holt R.A.,Gocayne J.D., Amanatides P., Ballew R.M., Huson D.H.,Wortman J.R., Zhang Q., Kodira C.D., Zheng X.H., Chen L.,Skupski M., Subramanian G., Thomas P.D., Zhang J., GaborMiklos G.L., and Nelson C., et al. 2001. <strong>The</strong> sequence <strong>of</strong> thehuman genome. Science 291: 1304.Wells D., Sherlock J.K., Handyside A.H., and Delhanty J.D.1999. Detailed chromosomal and molecular genetic analysis<strong>of</strong> single cells by whole genome amplification and comparativegenomic hybridisation. Nucleic Acids Res. 27: 1214.Zhang L., Cui X., Schmitt K., Hubert R., Navidi W., and ArnheimN. 1992. Whole genome amplification from a singlecell: Implications for genetic analysis. Proc. Natl. Acad. Sci.89: 5847.

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!