Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
Chromosomal abnormalities, such as deletions and duplications, are characterized by specific and often complex phenotypes resulting from an imbalance in normal gene dosage. However, routine chromosome banding is not sensitive enough to detect subtle chromosome aberrations (
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| Veröffentlicht in: | Human molecular genetics 2003-09, Vol.12 (17), p.2145-2152 |
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| container_title | Human molecular genetics |
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| creator | Yu, Wei Ballif, Blake C. Kashork, Catherine D. Heilstedt, Heidi A. Howard, Leslie A. Cai, Wei-Wen White, Lisa D. Liu, Wenbin Beaudet, Arthur L. Bejjani, Bassem A. Shaw, Chad A. Shaffer, Lisa G. |
| description | Chromosomal abnormalities, such as deletions and duplications, are characterized by specific and often complex phenotypes resulting from an imbalance in normal gene dosage. However, routine chromosome banding is not sensitive enough to detect subtle chromosome aberrations ( |
| doi_str_mv | 10.1093/hmg/ddg230 |
| format | Article |
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However, routine chromosome banding is not sensitive enough to detect subtle chromosome aberrations (<5–10 Mb). Array-based comparative genomic hybridization (array CGH) is a powerful new technology capable of identifying chromosomal imbalance at a high resolution by co-hybridizing differentially labeled test and control DNAs to a microarray of genomic clones. We used a previously assembled contig of large-insert clones that span 10.5 Mb of the most distal region of 1p36 to design a microarray. The array includes 97 clones from 1p36, 41 clones from the subtelomeric regions of all human chromosomes, and three clones from each of the X and Y chromosomes. We used this microarray to study 25 subjects with well-characterized deletions of 1p36. All array CGH results agree with the deletion sizes and locations of the breakpoints in these subjects as determined previously by FISH and microsatellite analyses. Terminal deletions, interstitial deletions, derivative chromosomes and complex rearrangements were also identified. We anticipate that array CGH will change the diagnostic approach to many congenital and acquired genetic diseases such as mental retardation, birth defects and cancer.</description><identifier>ISSN: 0964-6906</identifier><identifier>ISSN: 1460-2083</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddg230</identifier><identifier>PMID: 12915473</identifier><identifier>CODEN: HNGEE5</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Biological and medical sciences ; chromosome 1 ; Chromosome Aberrations ; Chromosome Deletion ; Chromosome Disorders - diagnosis ; Chromosome Disorders - genetics ; Chromosomes, Human, Pair 1 - genetics ; Classical genetics, quantitative genetics, hybrids ; Fundamental and applied biological sciences. Psychology ; Genetics of eukaryotes. Biological and molecular evolution ; Genome, Human ; Human ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Medical genetics ; Medical sciences ; Microsatellite Repeats ; Nucleic Acid Hybridization ; Oligonucleotide Array Sequence Analysis - methods ; Reproducibility of Results ; Sensitivity and Specificity ; Telomere - genetics</subject><ispartof>Human molecular genetics, 2003-09, Vol.12 (17), p.2145-2152</ispartof><rights>2003 INIST-CNRS</rights><rights>Copyright Oxford University Press(England) Sep 1, 2003</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c476t-fcb9bad6d8e4fa3b947dcc2781c88246f3fe134d7f4bf83d7fff2e8d1a7e7c1b3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15080747$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12915473$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Yu, Wei</creatorcontrib><creatorcontrib>Ballif, Blake C.</creatorcontrib><creatorcontrib>Kashork, Catherine D.</creatorcontrib><creatorcontrib>Heilstedt, Heidi A.</creatorcontrib><creatorcontrib>Howard, Leslie A.</creatorcontrib><creatorcontrib>Cai, Wei-Wen</creatorcontrib><creatorcontrib>White, Lisa D.</creatorcontrib><creatorcontrib>Liu, Wenbin</creatorcontrib><creatorcontrib>Beaudet, Arthur L.</creatorcontrib><creatorcontrib>Bejjani, Bassem A.</creatorcontrib><creatorcontrib>Shaw, Chad A.</creatorcontrib><creatorcontrib>Shaffer, Lisa G.</creatorcontrib><title>Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions</title><title>Human molecular genetics</title><addtitle>Hum. Mol. Genet</addtitle><description>Chromosomal abnormalities, such as deletions and duplications, are characterized by specific and often complex phenotypes resulting from an imbalance in normal gene dosage. However, routine chromosome banding is not sensitive enough to detect subtle chromosome aberrations (<5–10 Mb). Array-based comparative genomic hybridization (array CGH) is a powerful new technology capable of identifying chromosomal imbalance at a high resolution by co-hybridizing differentially labeled test and control DNAs to a microarray of genomic clones. We used a previously assembled contig of large-insert clones that span 10.5 Mb of the most distal region of 1p36 to design a microarray. The array includes 97 clones from 1p36, 41 clones from the subtelomeric regions of all human chromosomes, and three clones from each of the X and Y chromosomes. We used this microarray to study 25 subjects with well-characterized deletions of 1p36. All array CGH results agree with the deletion sizes and locations of the breakpoints in these subjects as determined previously by FISH and microsatellite analyses. Terminal deletions, interstitial deletions, derivative chromosomes and complex rearrangements were also identified. We anticipate that array CGH will change the diagnostic approach to many congenital and acquired genetic diseases such as mental retardation, birth defects and cancer.</description><subject>Biological and medical sciences</subject><subject>chromosome 1</subject><subject>Chromosome Aberrations</subject><subject>Chromosome Deletion</subject><subject>Chromosome Disorders - diagnosis</subject><subject>Chromosome Disorders - genetics</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genome, Human</subject><subject>Human</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Karyotyping</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats</subject><subject>Nucleic Acid Hybridization</subject><subject>Oligonucleotide Array Sequence Analysis - methods</subject><subject>Reproducibility of Results</subject><subject>Sensitivity and Specificity</subject><subject>Telomere - genetics</subject><issn>0964-6906</issn><issn>1460-2083</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkV1rFDEUhoModrt64w-QIOiFMDZfk8xcymqtWpCigngTMvnYTZ2ZjEmmdfsL_NmmzGLBG68OvOc5L-ecF4AnGL3CqKUnu2F7YsyWUHQPrDDjqCKooffBCrWcVbxF_Agcp3SJEOaMiofgCJMW10zQFfj9xl7ZPkyDHTMMDiqowzCpqLK_snBrxzB4DXf7Lnrjb4oaRliUGFSMag_VaKCxQxhTjkuzePic4Jx97_MeXvu8g6SG17bvK70rxjrb6G-sgXiivAz39nYuPQIPnOqTfXyoa_D19O2XzVl1_und-83r80ozwXPldNd2ynDTWOYU7VomjNZENFg3DWHcUWcxZUY41rmGluocsY3BSlihcUfX4MXiO8Xwc7Ypy8EnXbZTow1zkoLWHNWi_S-I2_JNzHkBn_0DXoY5juUISTAmHBNCCvRygcrrUorWySn6QcW9xEjepihLinJJscBPD45zN1hzhx5iK8DzA6CSVr2LatQ-3XE1apAo4BpUC-dTtr_-9lX8IbmgopZn377LzecPHy8QFvKC_gFGirgM</recordid><startdate>20030901</startdate><enddate>20030901</enddate><creator>Yu, Wei</creator><creator>Ballif, Blake C.</creator><creator>Kashork, Catherine D.</creator><creator>Heilstedt, Heidi A.</creator><creator>Howard, Leslie A.</creator><creator>Cai, Wei-Wen</creator><creator>White, Lisa D.</creator><creator>Liu, Wenbin</creator><creator>Beaudet, Arthur L.</creator><creator>Bejjani, Bassem A.</creator><creator>Shaw, Chad A.</creator><creator>Shaffer, Lisa G.</creator><general>Oxford University Press</general><general>Oxford Publishing Limited (England)</general><scope>BSCLL</scope><scope>IQODW</scope><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>7QP</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20030901</creationdate><title>Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions</title><author>Yu, Wei ; Ballif, Blake C. ; Kashork, Catherine D. ; Heilstedt, Heidi A. ; Howard, Leslie A. ; Cai, Wei-Wen ; White, Lisa D. ; Liu, Wenbin ; Beaudet, Arthur L. ; Bejjani, Bassem A. ; Shaw, Chad A. ; Shaffer, Lisa G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c476t-fcb9bad6d8e4fa3b947dcc2781c88246f3fe134d7f4bf83d7fff2e8d1a7e7c1b3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Biological and medical sciences</topic><topic>chromosome 1</topic><topic>Chromosome Aberrations</topic><topic>Chromosome Deletion</topic><topic>Chromosome Disorders - diagnosis</topic><topic>Chromosome Disorders - genetics</topic><topic>Chromosomes, Human, Pair 1 - genetics</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genome, Human</topic><topic>Human</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Karyotyping</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats</topic><topic>Nucleic Acid Hybridization</topic><topic>Oligonucleotide Array Sequence Analysis - methods</topic><topic>Reproducibility of Results</topic><topic>Sensitivity and Specificity</topic><topic>Telomere - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Yu, Wei</creatorcontrib><creatorcontrib>Ballif, Blake C.</creatorcontrib><creatorcontrib>Kashork, Catherine D.</creatorcontrib><creatorcontrib>Heilstedt, Heidi A.</creatorcontrib><creatorcontrib>Howard, Leslie A.</creatorcontrib><creatorcontrib>Cai, Wei-Wen</creatorcontrib><creatorcontrib>White, Lisa D.</creatorcontrib><creatorcontrib>Liu, Wenbin</creatorcontrib><creatorcontrib>Beaudet, Arthur L.</creatorcontrib><creatorcontrib>Bejjani, Bassem A.</creatorcontrib><creatorcontrib>Shaw, Chad A.</creatorcontrib><creatorcontrib>Shaffer, Lisa G.</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Human molecular genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Yu, Wei</au><au>Ballif, Blake C.</au><au>Kashork, Catherine D.</au><au>Heilstedt, Heidi A.</au><au>Howard, Leslie A.</au><au>Cai, Wei-Wen</au><au>White, Lisa D.</au><au>Liu, Wenbin</au><au>Beaudet, Arthur L.</au><au>Bejjani, Bassem A.</au><au>Shaw, Chad A.</au><au>Shaffer, Lisa G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum. Mol. Genet</addtitle><date>2003-09-01</date><risdate>2003</risdate><volume>12</volume><issue>17</issue><spage>2145</spage><epage>2152</epage><pages>2145-2152</pages><issn>0964-6906</issn><issn>1460-2083</issn><eissn>1460-2083</eissn><coden>HNGEE5</coden><abstract>Chromosomal abnormalities, such as deletions and duplications, are characterized by specific and often complex phenotypes resulting from an imbalance in normal gene dosage. However, routine chromosome banding is not sensitive enough to detect subtle chromosome aberrations (<5–10 Mb). Array-based comparative genomic hybridization (array CGH) is a powerful new technology capable of identifying chromosomal imbalance at a high resolution by co-hybridizing differentially labeled test and control DNAs to a microarray of genomic clones. We used a previously assembled contig of large-insert clones that span 10.5 Mb of the most distal region of 1p36 to design a microarray. The array includes 97 clones from 1p36, 41 clones from the subtelomeric regions of all human chromosomes, and three clones from each of the X and Y chromosomes. We used this microarray to study 25 subjects with well-characterized deletions of 1p36. All array CGH results agree with the deletion sizes and locations of the breakpoints in these subjects as determined previously by FISH and microsatellite analyses. Terminal deletions, interstitial deletions, derivative chromosomes and complex rearrangements were also identified. We anticipate that array CGH will change the diagnostic approach to many congenital and acquired genetic diseases such as mental retardation, birth defects and cancer.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>12915473</pmid><doi>10.1093/hmg/ddg230</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| source | Oxford University Press Journals All Titles (1996-Current); MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Biological and medical sciences chromosome 1 Chromosome Aberrations Chromosome Deletion Chromosome Disorders - diagnosis Chromosome Disorders - genetics Chromosomes, Human, Pair 1 - genetics Classical genetics, quantitative genetics, hybrids Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Genome, Human Human Humans In Situ Hybridization, Fluorescence Karyotyping Medical genetics Medical sciences Microsatellite Repeats Nucleic Acid Hybridization Oligonucleotide Array Sequence Analysis - methods Reproducibility of Results Sensitivity and Specificity Telomere - genetics |
| title | Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions |
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