Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis
The human chromosome X is closely associated with congenital disorders and mental retardation (MR), because it contains a significantly higher number of genes than estimated from the proportion in the human genome. We constructed a high-density and high-resolution human chromosome X array (X-tiling...
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| Veröffentlicht in: | Journal of human genetics 2007-05, Vol.52 (5), p.397-405 |
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| container_title | Journal of human genetics |
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| creator | Hayashi, Shin Honda, Shozo Minaguchi, Maki Makita, Yoshio Okamoto, Nobuhiko Kosaki, Rika Okuyama, Torayuki Imoto, Issei Mizutani, Shuki Inazawa, Johji |
| description | The human chromosome X is closely associated with congenital disorders and mental retardation (MR), because it contains a significantly higher number of genes than estimated from the proportion in the human genome. We constructed a high-density and high-resolution human chromosome X array (X-tiling array) for comparative genomic hybridization (CGH). The array contains a total of 1,001 bacterial artificial chromosome (BACs) throughout chromosome X except pseudoautosomal regions and two BACs specific for Y. In four hybridizations using DNA samples from healthy males, the ratio of each spotted DNA was scattered between −3SD and 3SD, corresponding to a log
2
ratio of −0.35 and 0.35, respectively. Using DNA samples from patients with known congenital disorders, our X-tiling array was proven to discriminate one-copy losses and gains together with their physical sizes, and also to estimate the percentage of a mosaicism in a patient with mos 45,X[13]/46,X,r(X)[7]. Furthermore, array-CGH in a patient with atypical Schinzel-Giedion syndrome disclosed a 1.1-Mb duplication at Xq22.3 including a part of the
IL1RAPL2
gene as a likely causative aberration. The results indicate our in-house X-tiling array to be useful for the identification of cryptic copy-number aberrations containing novel genes responsible for diseases such as congenital disorders and X-linked MR. |
| doi_str_mv | 10.1007/s10038-007-0127-4 |
| format | Article |
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2
ratio of −0.35 and 0.35, respectively. Using DNA samples from patients with known congenital disorders, our X-tiling array was proven to discriminate one-copy losses and gains together with their physical sizes, and also to estimate the percentage of a mosaicism in a patient with mos 45,X[13]/46,X,r(X)[7]. Furthermore, array-CGH in a patient with atypical Schinzel-Giedion syndrome disclosed a 1.1-Mb duplication at Xq22.3 including a part of the
IL1RAPL2
gene as a likely causative aberration. The results indicate our in-house X-tiling array to be useful for the identification of cryptic copy-number aberrations containing novel genes responsible for diseases such as congenital disorders and X-linked MR.</description><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1007/s10038-007-0127-4</identifier><identifier>PMID: 17406783</identifier><language>eng</language><publisher>Tokyo: Springer Japan</publisher><subject>Artificial chromosomes ; Bacterial artificial chromosomes ; Biomedicine ; Chromosomes, Artificial, Bacterial ; Chromosomes, Human, X ; Congenital diseases ; Deoxyribonucleic acid ; DNA ; Gene Dosage ; Gene Expression ; Gene Function ; Gene Therapy ; Genetic Diseases, X-Linked - genetics ; Genomes ; Human Genetics ; Humans ; Hybridization analysis ; Intellectual disabilities ; Interleukin 1 ; Interleukin-1 Receptor Accessory Protein - genetics ; Male ; Mental Retardation, X-Linked - genetics ; Microarray Analysis - methods ; Molecular Medicine ; Mosaicism ; Nucleic Acid Hybridization ; Original Article</subject><ispartof>Journal of human genetics, 2007-05, Vol.52 (5), p.397-405</ispartof><rights>The Japan Society of Human Genetics and Springer 2007</rights><rights>The Japan Society of Human Genetics and Springer 2007.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c528t-7326ffd87a718fec05f9a96f03a207bf5e9e301a88e919983d6ae75dc5c2813</citedby><cites>FETCH-LOGICAL-c528t-7326ffd87a718fec05f9a96f03a207bf5e9e301a88e919983d6ae75dc5c2813</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10038-007-0127-4$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10038-007-0127-4$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51298</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17406783$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hayashi, Shin</creatorcontrib><creatorcontrib>Honda, Shozo</creatorcontrib><creatorcontrib>Minaguchi, Maki</creatorcontrib><creatorcontrib>Makita, Yoshio</creatorcontrib><creatorcontrib>Okamoto, Nobuhiko</creatorcontrib><creatorcontrib>Kosaki, Rika</creatorcontrib><creatorcontrib>Okuyama, Torayuki</creatorcontrib><creatorcontrib>Imoto, Issei</creatorcontrib><creatorcontrib>Mizutani, Shuki</creatorcontrib><creatorcontrib>Inazawa, Johji</creatorcontrib><title>Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis</title><title>Journal of human genetics</title><addtitle>J Hum Genet</addtitle><addtitle>J Hum Genet</addtitle><description>The human chromosome X is closely associated with congenital disorders and mental retardation (MR), because it contains a significantly higher number of genes than estimated from the proportion in the human genome. We constructed a high-density and high-resolution human chromosome X array (X-tiling array) for comparative genomic hybridization (CGH). The array contains a total of 1,001 bacterial artificial chromosome (BACs) throughout chromosome X except pseudoautosomal regions and two BACs specific for Y. In four hybridizations using DNA samples from healthy males, the ratio of each spotted DNA was scattered between −3SD and 3SD, corresponding to a log
2
ratio of −0.35 and 0.35, respectively. Using DNA samples from patients with known congenital disorders, our X-tiling array was proven to discriminate one-copy losses and gains together with their physical sizes, and also to estimate the percentage of a mosaicism in a patient with mos 45,X[13]/46,X,r(X)[7]. Furthermore, array-CGH in a patient with atypical Schinzel-Giedion syndrome disclosed a 1.1-Mb duplication at Xq22.3 including a part of the
IL1RAPL2
gene as a likely causative aberration. The results indicate our in-house X-tiling array to be useful for the identification of cryptic copy-number aberrations containing novel genes responsible for diseases such as congenital disorders and X-linked MR.</description><subject>Artificial chromosomes</subject><subject>Bacterial artificial chromosomes</subject><subject>Biomedicine</subject><subject>Chromosomes, Artificial, Bacterial</subject><subject>Chromosomes, Human, X</subject><subject>Congenital diseases</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>Gene Dosage</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Genetic Diseases, X-Linked - genetics</subject><subject>Genomes</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Hybridization analysis</subject><subject>Intellectual disabilities</subject><subject>Interleukin 1</subject><subject>Interleukin-1 Receptor Accessory Protein - genetics</subject><subject>Male</subject><subject>Mental Retardation, X-Linked - genetics</subject><subject>Microarray Analysis - methods</subject><subject>Molecular Medicine</subject><subject>Mosaicism</subject><subject>Nucleic Acid Hybridization</subject><subject>Original Article</subject><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNp1kUtr3DAUhUVJadK0P6CbIgh0p1YPy5KXYUgfEOiiXWQn7sjSWMGWJpId8Pz6esYDgUA30kH3O0cXDkKfGP3KKFXfynIKTRZJKOOKVG_QFauEJFzwh4uTrohkNbtE70t5pAvNFX-HLpmqaK20uEKHTYplzJMdQ4o4eQy4C7uOtC6WMM4YYrs-ZFdSP52obhogYtvlNKSSBocfMOQMM_YpY5uGPWQYw7PDOxfTECzu5m0ObTjAyQ4R-rmE8gG99dAX9_F8X6M_3-_-bn6S-98_fm1u74mVXI9ECV5732oFimnvLJW-gab2VACnauula5ygDLR2DWsaLdoanJKtlZZrJq7RlzV1n9PT5MpohlCs63uILk3FKFoJwaVcwJtX4GOa8rJrMbzisuaMimMcWymbUynZebPPYYA8G0bNsRSzlmKO8liKqRbP53PytB1c--I4t7AAfAXKMoo7l1--_n_qP0SFmVg</recordid><startdate>20070501</startdate><enddate>20070501</enddate><creator>Hayashi, Shin</creator><creator>Honda, Shozo</creator><creator>Minaguchi, Maki</creator><creator>Makita, Yoshio</creator><creator>Okamoto, Nobuhiko</creator><creator>Kosaki, Rika</creator><creator>Okuyama, Torayuki</creator><creator>Imoto, Issei</creator><creator>Mizutani, Shuki</creator><creator>Inazawa, Johji</creator><general>Springer Japan</general><general>Nature Publishing Group</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20070501</creationdate><title>Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis</title><author>Hayashi, Shin ; Honda, Shozo ; Minaguchi, Maki ; Makita, Yoshio ; Okamoto, Nobuhiko ; Kosaki, Rika ; Okuyama, Torayuki ; Imoto, Issei ; Mizutani, Shuki ; Inazawa, Johji</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c528t-7326ffd87a718fec05f9a96f03a207bf5e9e301a88e919983d6ae75dc5c2813</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Artificial chromosomes</topic><topic>Bacterial artificial chromosomes</topic><topic>Biomedicine</topic><topic>Chromosomes, Artificial, Bacterial</topic><topic>Chromosomes, Human, X</topic><topic>Congenital diseases</topic><topic>Deoxyribonucleic acid</topic><topic>DNA</topic><topic>Gene Dosage</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Genetic Diseases, X-Linked - genetics</topic><topic>Genomes</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Hybridization analysis</topic><topic>Intellectual disabilities</topic><topic>Interleukin 1</topic><topic>Interleukin-1 Receptor Accessory Protein - genetics</topic><topic>Male</topic><topic>Mental Retardation, X-Linked - genetics</topic><topic>Microarray Analysis - methods</topic><topic>Molecular Medicine</topic><topic>Mosaicism</topic><topic>Nucleic Acid Hybridization</topic><topic>Original Article</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hayashi, Shin</creatorcontrib><creatorcontrib>Honda, Shozo</creatorcontrib><creatorcontrib>Minaguchi, Maki</creatorcontrib><creatorcontrib>Makita, Yoshio</creatorcontrib><creatorcontrib>Okamoto, Nobuhiko</creatorcontrib><creatorcontrib>Kosaki, Rika</creatorcontrib><creatorcontrib>Okuyama, Torayuki</creatorcontrib><creatorcontrib>Imoto, Issei</creatorcontrib><creatorcontrib>Mizutani, Shuki</creatorcontrib><creatorcontrib>Inazawa, Johji</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hayashi, Shin</au><au>Honda, Shozo</au><au>Minaguchi, Maki</au><au>Makita, Yoshio</au><au>Okamoto, Nobuhiko</au><au>Kosaki, Rika</au><au>Okuyama, Torayuki</au><au>Imoto, Issei</au><au>Mizutani, Shuki</au><au>Inazawa, Johji</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis</atitle><jtitle>Journal of human genetics</jtitle><stitle>J Hum Genet</stitle><addtitle>J Hum Genet</addtitle><date>2007-05-01</date><risdate>2007</risdate><volume>52</volume><issue>5</issue><spage>397</spage><epage>405</epage><pages>397-405</pages><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>The human chromosome X is closely associated with congenital disorders and mental retardation (MR), because it contains a significantly higher number of genes than estimated from the proportion in the human genome. We constructed a high-density and high-resolution human chromosome X array (X-tiling array) for comparative genomic hybridization (CGH). The array contains a total of 1,001 bacterial artificial chromosome (BACs) throughout chromosome X except pseudoautosomal regions and two BACs specific for Y. In four hybridizations using DNA samples from healthy males, the ratio of each spotted DNA was scattered between −3SD and 3SD, corresponding to a log
2
ratio of −0.35 and 0.35, respectively. Using DNA samples from patients with known congenital disorders, our X-tiling array was proven to discriminate one-copy losses and gains together with their physical sizes, and also to estimate the percentage of a mosaicism in a patient with mos 45,X[13]/46,X,r(X)[7]. Furthermore, array-CGH in a patient with atypical Schinzel-Giedion syndrome disclosed a 1.1-Mb duplication at Xq22.3 including a part of the
IL1RAPL2
gene as a likely causative aberration. The results indicate our in-house X-tiling array to be useful for the identification of cryptic copy-number aberrations containing novel genes responsible for diseases such as congenital disorders and X-linked MR.</abstract><cop>Tokyo</cop><pub>Springer Japan</pub><pmid>17406783</pmid><doi>10.1007/s10038-007-0127-4</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Artificial chromosomes Bacterial artificial chromosomes Biomedicine Chromosomes, Artificial, Bacterial Chromosomes, Human, X Congenital diseases Deoxyribonucleic acid DNA Gene Dosage Gene Expression Gene Function Gene Therapy Genetic Diseases, X-Linked - genetics Genomes Human Genetics Humans Hybridization analysis Intellectual disabilities Interleukin 1 Interleukin-1 Receptor Accessory Protein - genetics Male Mental Retardation, X-Linked - genetics Microarray Analysis - methods Molecular Medicine Mosaicism Nucleic Acid Hybridization Original Article |
| title | Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis |
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