Identification of a Locus for Dyschromatosis Symmetrica Hereditaria at Chromosome 1q11–1q21
Dyschromatosis symmetrica hereditaria is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the face and the dorsal aspects of the extremities. The genetic basis for this disease is unknown. We performed a genome-wi...
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| Veröffentlicht in: | Journal of investigative dermatology 2003-05, Vol.120 (5), p.776-780 |
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| creator | Zhang, Xue-Jun Gao, Min Li, Ming Li, Ming Li, Cheng-Rang Cui, Yong He, Ping-Ping Xu, Shi-Jie Xiong, Xiao-Yan Wang, Zai-Xing Yuan, Wen-Tao Yang, Sen Huang, Wei |
| description | Dyschromatosis symmetrica hereditaria is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the face and the dorsal aspects of the extremities. The genetic basis for this disease is unknown. We performed a genome-wide search in two large Chinese families to map the chromosome location of the responsible gene. We identified a locus at chromosome 1q11–1q21 with a cumulative maximum two-point LOD score of 8.85 at marker D1S2343 (at recombination fraction=0.00). Haplotype analyses indicated that the disease gene is located within the 11.6 cM region between markers D1S2696 and D1S2635. This is the first locus identified for dyschromatosis symmetrica hereditaria. This study provides a map location for isolation of a disease gene causing dyschromatosis symmetrica hereditaria. |
| doi_str_mv | 10.1046/j.1523-1747.2003.12130.x |
| format | Article |
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The genetic basis for this disease is unknown. We performed a genome-wide search in two large Chinese families to map the chromosome location of the responsible gene. We identified a locus at chromosome 1q11–1q21 with a cumulative maximum two-point LOD score of 8.85 at marker D1S2343 (at recombination fraction=0.00). Haplotype analyses indicated that the disease gene is located within the 11.6 cM region between markers D1S2696 and D1S2635. This is the first locus identified for dyschromatosis symmetrica hereditaria. This study provides a map location for isolation of a disease gene causing dyschromatosis symmetrica hereditaria.</description><identifier>ISSN: 0022-202X</identifier><identifier>EISSN: 1523-1747</identifier><identifier>DOI: 10.1046/j.1523-1747.2003.12130.x</identifier><identifier>PMID: 12713580</identifier><identifier>CODEN: JIDEAE</identifier><language>eng</language><publisher>Danvers, MA: Elsevier Inc</publisher><subject>Biological and medical sciences ; China ; Chromosomes, Human, Pair 1 ; Dermatology ; dyschromatosis symmetrica hereditaria ; Female ; gene mapping ; Genetic Linkage ; Genetic Markers ; genome-wide scan ; Genotype ; Haplotypes ; Humans ; linkage analysis ; Lod Score ; Male ; Medical sciences ; Pedigree ; Pigmentary diseases of the skin ; Pigmentation Disorders - genetics ; Skin Diseases - genetics</subject><ispartof>Journal of investigative dermatology, 2003-05, Vol.120 (5), p.776-780</ispartof><rights>2003 The Society for Investigative Dermatology, Inc</rights><rights>2003 INIST-CNRS</rights><rights>Copyright Nature Publishing Group May 2003</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c565t-96304ed8079d26ff55e9713fbf3b9a696be2b6da5fee2ea36a224425287d884c3</citedby><cites>FETCH-LOGICAL-c565t-96304ed8079d26ff55e9713fbf3b9a696be2b6da5fee2ea36a224425287d884c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.proquest.com/docview/210342205?pq-origsite=primo$$EHTML$$P50$$Gproquest$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,64385,64387,64389,72469</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14876619$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12713580$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhang, Xue-Jun</creatorcontrib><creatorcontrib>Gao, Min</creatorcontrib><creatorcontrib>Li, Ming</creatorcontrib><creatorcontrib>Li, Ming</creatorcontrib><creatorcontrib>Li, Cheng-Rang</creatorcontrib><creatorcontrib>Cui, Yong</creatorcontrib><creatorcontrib>He, Ping-Ping</creatorcontrib><creatorcontrib>Xu, Shi-Jie</creatorcontrib><creatorcontrib>Xiong, Xiao-Yan</creatorcontrib><creatorcontrib>Wang, Zai-Xing</creatorcontrib><creatorcontrib>Yuan, Wen-Tao</creatorcontrib><creatorcontrib>Yang, Sen</creatorcontrib><creatorcontrib>Huang, Wei</creatorcontrib><title>Identification of a Locus for Dyschromatosis Symmetrica Hereditaria at Chromosome 1q11–1q21</title><title>Journal of investigative dermatology</title><addtitle>J Invest Dermatol</addtitle><description>Dyschromatosis symmetrica hereditaria is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the face and the dorsal aspects of the extremities. The genetic basis for this disease is unknown. We performed a genome-wide search in two large Chinese families to map the chromosome location of the responsible gene. We identified a locus at chromosome 1q11–1q21 with a cumulative maximum two-point LOD score of 8.85 at marker D1S2343 (at recombination fraction=0.00). Haplotype analyses indicated that the disease gene is located within the 11.6 cM region between markers D1S2696 and D1S2635. This is the first locus identified for dyschromatosis symmetrica hereditaria. This study provides a map location for isolation of a disease gene causing dyschromatosis symmetrica hereditaria.</description><subject>Biological and medical sciences</subject><subject>China</subject><subject>Chromosomes, Human, Pair 1</subject><subject>Dermatology</subject><subject>dyschromatosis symmetrica hereditaria</subject><subject>Female</subject><subject>gene mapping</subject><subject>Genetic Linkage</subject><subject>Genetic Markers</subject><subject>genome-wide scan</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>Humans</subject><subject>linkage analysis</subject><subject>Lod Score</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Pedigree</subject><subject>Pigmentary diseases of the skin</subject><subject>Pigmentation Disorders - genetics</subject><subject>Skin Diseases - genetics</subject><issn>0022-202X</issn><issn>1523-1747</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkc1u1DAURi0EotPCI4AsJLpLsG9iJ1nC8NNKI7EAJDbIcpxr4dEk7tgO6ux4B96QJ8FhRq3EhpUX37lXn88lhHJWclbLV9uSC6gK3tRNCYxVJQdesfL2AVndBQ_JijGAAhh8PSPnMW4Z47IW7WNyxqHhlWjZiny7HnBKzjqjk_MT9ZZquvFmjtT6QN8eovke_KiTjy7ST4dxxBQyTK8w4OCSDk5Tneh6oXz0I1K-5_z3z198D_wJeWT1LuLT03tBvrx_93l9VWw-frhev94URkiRik5WrMahZU03gLRWCOxyQdvbqu-07GSP0MtBC4sIqCupAeoaBLTN0La1qS7I5XHvTfD7GWNSo4sGdzs9oZ-jairIX2-6DL74B9z6OUy5mwLOqhqAiQy1R8gEH2NAq26CG3U4KM7U4l9t1aJZLZrV4l_99a9u8-jz0_65H3G4HzwJz8DLE6Cj0Tsb9GRcvOfqtpGSL0WfHblJpzngHSAk4y2DnL855pi1_nAYVDQOJ5NvEtAkNXj3_7Z_AM5WrT4</recordid><startdate>20030501</startdate><enddate>20030501</enddate><creator>Zhang, Xue-Jun</creator><creator>Gao, Min</creator><creator>Li, Ming</creator><creator>Li, Ming</creator><creator>Li, Cheng-Rang</creator><creator>Cui, Yong</creator><creator>He, Ping-Ping</creator><creator>Xu, Shi-Jie</creator><creator>Xiong, Xiao-Yan</creator><creator>Wang, Zai-Xing</creator><creator>Yuan, Wen-Tao</creator><creator>Yang, Sen</creator><creator>Huang, Wei</creator><general>Elsevier Inc</general><general>Nature Publishing</general><general>Elsevier Limited</general><scope>6I.</scope><scope>AAFTH</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>3V.</scope><scope>7T5</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FD</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>H94</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</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>20030501</creationdate><title>Identification of a Locus for Dyschromatosis Symmetrica Hereditaria at Chromosome 1q11–1q21</title><author>Zhang, Xue-Jun ; Gao, Min ; Li, Ming ; Li, Ming ; Li, Cheng-Rang ; Cui, Yong ; He, Ping-Ping ; Xu, Shi-Jie ; Xiong, Xiao-Yan ; Wang, Zai-Xing ; Yuan, Wen-Tao ; Yang, Sen ; Huang, Wei</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c565t-96304ed8079d26ff55e9713fbf3b9a696be2b6da5fee2ea36a224425287d884c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Biological and medical sciences</topic><topic>China</topic><topic>Chromosomes, Human, Pair 1</topic><topic>Dermatology</topic><topic>dyschromatosis symmetrica hereditaria</topic><topic>Female</topic><topic>gene mapping</topic><topic>Genetic Linkage</topic><topic>Genetic Markers</topic><topic>genome-wide scan</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>Humans</topic><topic>linkage analysis</topic><topic>Lod Score</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Pedigree</topic><topic>Pigmentary diseases of the skin</topic><topic>Pigmentation Disorders - genetics</topic><topic>Skin Diseases - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zhang, Xue-Jun</creatorcontrib><creatorcontrib>Gao, Min</creatorcontrib><creatorcontrib>Li, Ming</creatorcontrib><creatorcontrib>Li, Ming</creatorcontrib><creatorcontrib>Li, Cheng-Rang</creatorcontrib><creatorcontrib>Cui, Yong</creatorcontrib><creatorcontrib>He, Ping-Ping</creatorcontrib><creatorcontrib>Xu, Shi-Jie</creatorcontrib><creatorcontrib>Xiong, Xiao-Yan</creatorcontrib><creatorcontrib>Wang, Zai-Xing</creatorcontrib><creatorcontrib>Yuan, Wen-Tao</creatorcontrib><creatorcontrib>Yang, Sen</creatorcontrib><creatorcontrib>Huang, Wei</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</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>ProQuest Central (Corporate)</collection><collection>Immunology Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Technology Research Database</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</collection><collection>ProQuest One Community College</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical 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 investigative dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhang, Xue-Jun</au><au>Gao, Min</au><au>Li, Ming</au><au>Li, Ming</au><au>Li, Cheng-Rang</au><au>Cui, Yong</au><au>He, Ping-Ping</au><au>Xu, Shi-Jie</au><au>Xiong, Xiao-Yan</au><au>Wang, Zai-Xing</au><au>Yuan, Wen-Tao</au><au>Yang, Sen</au><au>Huang, Wei</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Identification of a Locus for Dyschromatosis Symmetrica Hereditaria at Chromosome 1q11–1q21</atitle><jtitle>Journal of investigative dermatology</jtitle><addtitle>J Invest Dermatol</addtitle><date>2003-05-01</date><risdate>2003</risdate><volume>120</volume><issue>5</issue><spage>776</spage><epage>780</epage><pages>776-780</pages><issn>0022-202X</issn><eissn>1523-1747</eissn><coden>JIDEAE</coden><abstract>Dyschromatosis symmetrica hereditaria is a rare autosomal dominant cutaneous disorder characterized by a mixture of hyperpigmented and hypopigmented macules of various sizes on the face and the dorsal aspects of the extremities. The genetic basis for this disease is unknown. We performed a genome-wide search in two large Chinese families to map the chromosome location of the responsible gene. We identified a locus at chromosome 1q11–1q21 with a cumulative maximum two-point LOD score of 8.85 at marker D1S2343 (at recombination fraction=0.00). Haplotype analyses indicated that the disease gene is located within the 11.6 cM region between markers D1S2696 and D1S2635. This is the first locus identified for dyschromatosis symmetrica hereditaria. This study provides a map location for isolation of a disease gene causing dyschromatosis symmetrica hereditaria.</abstract><cop>Danvers, MA</cop><pub>Elsevier Inc</pub><pmid>12713580</pmid><doi>10.1046/j.1523-1747.2003.12130.x</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Biological and medical sciences China Chromosomes, Human, Pair 1 Dermatology dyschromatosis symmetrica hereditaria Female gene mapping Genetic Linkage Genetic Markers genome-wide scan Genotype Haplotypes Humans linkage analysis Lod Score Male Medical sciences Pedigree Pigmentary diseases of the skin Pigmentation Disorders - genetics Skin Diseases - genetics |
| title | Identification of a Locus for Dyschromatosis Symmetrica Hereditaria at Chromosome 1q11–1q21 |
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