Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL)
The loci for the juvenile (CLN3) and infantile (CLN1) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively. The late‐infantile defect CLN2 has not yet been mapped, although linkage analysis with tightly linked markers exc...
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| Veröffentlicht in: | American Journal of Medical Genetics 1995-06, Vol.57 (2), p.344-347 |
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| container_title | American Journal of Medical Genetics |
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| creator | Haines, J. L. Boustany, R.-M. N. Worster, T. Ter-Minassian, M. Jondro, P. Lerner, T. J. |
| description | The loci for the juvenile (CLN3) and infantile (CLN1) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively. The late‐infantile defect CLN2 has not yet been mapped, although linkage analysis with tightly linked markers excludes it from both the JNCL and INCL loci. We have initiated a genome‐wide search for the LNCL gene, taking advantage of the large collection of highly polymorphic markers that has been developed through the Human Genome Initiative. The high degree of heterozygosity of these markers makes it feasible to carry out successful linkage analysis in small nuclear families, such as found in LNCL. Our current collection of LNCL pedigrees includes 19 US families and 11 Costa Rican families. To date, we have completed typing with over 50 markers on chromosomes 2, 9, 13, and 18–22. The results of this analysis formally exclude about 10% of the human genome as the location of the LNCL gene. © 1995 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.1320570248 |
| format | Article |
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L. ; Boustany, R.-M. N. ; Worster, T. ; Ter-Minassian, M. ; Jondro, P. ; Lerner, T. J.</creator><creatorcontrib>Haines, J. L. ; Boustany, R.-M. N. ; Worster, T. ; Ter-Minassian, M. ; Jondro, P. ; Lerner, T. J.</creatorcontrib><description>The loci for the juvenile (CLN3) and infantile (CLN1) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively. The late‐infantile defect CLN2 has not yet been mapped, although linkage analysis with tightly linked markers excludes it from both the JNCL and INCL loci. We have initiated a genome‐wide search for the LNCL gene, taking advantage of the large collection of highly polymorphic markers that has been developed through the Human Genome Initiative. The high degree of heterozygosity of these markers makes it feasible to carry out successful linkage analysis in small nuclear families, such as found in LNCL. Our current collection of LNCL pedigrees includes 19 US families and 11 Costa Rican families. To date, we have completed typing with over 50 markers on chromosomes 2, 9, 13, and 18–22. The results of this analysis formally exclude about 10% of the human genome as the location of the LNCL gene. © 1995 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/ajmg.1320570248</identifier><identifier>PMID: 7668360</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Biological and medical sciences ; BIOLOGICAL MARKERS ; BIOLOGY AND MEDICINE, BASIC STUDIES ; Chromosome Mapping ; Chromosomes, Human ; Chromosomes, Human, Pair 13 ; Chromosomes, Human, Pair 18 ; Chromosomes, Human, Pair 19 ; Chromosomes, Human, Pair 2 ; Chromosomes, Human, Pair 20 ; Chromosomes, Human, Pair 21 ; Chromosomes, Human, Pair 22 ; Chromosomes, Human, Pair 9 ; Computer Simulation ; Errors of metabolism ; exclusion ; GENES ; genetic linkage ; GENETIC MAPPING ; Genetic Markers ; GENETICS ; Genome, Human ; HEREDITARY DISEASES ; HUMAN CHROMOSOME 1 ; HUMAN CHROMOSOME 16 ; HUMAN CHROMOSOMES ; Humans ; late-infantile neuronal ceroid lipofuscinosis ; Lod Score ; Medical sciences ; Metabolic diseases ; Models, Genetic ; NERVOUS SYSTEM DISEASES ; Neuronal Ceroid-Lipofuscinoses - genetics ; PATIENTS ; Pedigree ; Polymerase Chain Reaction ; Proteins and glycoproteins ; STATISTICS</subject><ispartof>American Journal of Medical Genetics, 1995-06, Vol.57 (2), p.344-347</ispartof><rights>Copyright © 1995 Wiley‐Liss, Inc., A Wiley Company</rights><rights>1995 INIST-CNRS</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3918-f5100db12568badb6a338c760964d106c6abbbeb0aca94ade23cfc6cbe5bd51f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>309,310,314,776,780,785,786,881,23909,23910,25118,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3574401$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/7668360$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/105198$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Haines, J. L.</creatorcontrib><creatorcontrib>Boustany, R.-M. N.</creatorcontrib><creatorcontrib>Worster, T.</creatorcontrib><creatorcontrib>Ter-Minassian, M.</creatorcontrib><creatorcontrib>Jondro, P.</creatorcontrib><creatorcontrib>Lerner, T. J.</creatorcontrib><title>Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL)</title><title>American Journal of Medical Genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>The loci for the juvenile (CLN3) and infantile (CLN1) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively. The late‐infantile defect CLN2 has not yet been mapped, although linkage analysis with tightly linked markers excludes it from both the JNCL and INCL loci. We have initiated a genome‐wide search for the LNCL gene, taking advantage of the large collection of highly polymorphic markers that has been developed through the Human Genome Initiative. The high degree of heterozygosity of these markers makes it feasible to carry out successful linkage analysis in small nuclear families, such as found in LNCL. Our current collection of LNCL pedigrees includes 19 US families and 11 Costa Rican families. To date, we have completed typing with over 50 markers on chromosomes 2, 9, 13, and 18–22. The results of this analysis formally exclude about 10% of the human genome as the location of the LNCL gene. © 1995 Wiley‐Liss, Inc.</description><subject>Biological and medical sciences</subject><subject>BIOLOGICAL MARKERS</subject><subject>BIOLOGY AND MEDICINE, BASIC STUDIES</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human</subject><subject>Chromosomes, Human, Pair 13</subject><subject>Chromosomes, Human, Pair 18</subject><subject>Chromosomes, Human, Pair 19</subject><subject>Chromosomes, Human, Pair 2</subject><subject>Chromosomes, Human, Pair 20</subject><subject>Chromosomes, Human, Pair 21</subject><subject>Chromosomes, Human, Pair 22</subject><subject>Chromosomes, Human, Pair 9</subject><subject>Computer Simulation</subject><subject>Errors of metabolism</subject><subject>exclusion</subject><subject>GENES</subject><subject>genetic linkage</subject><subject>GENETIC MAPPING</subject><subject>Genetic Markers</subject><subject>GENETICS</subject><subject>Genome, Human</subject><subject>HEREDITARY DISEASES</subject><subject>HUMAN CHROMOSOME 1</subject><subject>HUMAN CHROMOSOME 16</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>late-infantile neuronal ceroid lipofuscinosis</subject><subject>Lod Score</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Models, Genetic</subject><subject>NERVOUS SYSTEM DISEASES</subject><subject>Neuronal Ceroid-Lipofuscinoses - genetics</subject><subject>PATIENTS</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Proteins and glycoproteins</subject><subject>STATISTICS</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkM1v0zAYhy0EGmVw5oRkJIRAIpsdJ04iTqNiHSiUA0Nws2zndestsYudaOy_x1WqIk6cLPl9fu_Hg9BzSs4oIfm5vBk2Z5TlpKxIXtQP0IKShmc1z-uHaEFoUWdV3jSP0ZMYbwih6SM_QScV5zXjZIHUCpwfILuzHeAIMugtNj7gZbvO3-FxC3gDDrCWU7Rug3s5QmadkW60PWAHU_BO9lhD8LbLervzZoraOh9txG_a9bJ9-xQ9MrKP8OzwnqLvlx-vl1dZ-3X1aXnRZpo1tM5MmQ7qFM1LXivZKS4Zq3XF0zlFRwnXXCqlQBGpZVPIDnKmjeZaQam6khp2il7OfX0crUhLjKC32jsHehSUlLSpE_N6ZnbB_5ogjmKwUUPfSwd-iqKqSsqSpQSez6AOPsYARuyCHWS4T53E3rzYmxd_zafEi0PrSQ3QHfmD6lR_dajLqGVvgnTaxiPGyqooyH7w-xm7S4Lv_zdVXHz-svpniWxO2zjC72NahlvBK1aV4sd6JcjPD-Tq-pKJb-wPOBSsMA</recordid><startdate>19950605</startdate><enddate>19950605</enddate><creator>Haines, J. L.</creator><creator>Boustany, R.-M. N.</creator><creator>Worster, T.</creator><creator>Ter-Minassian, M.</creator><creator>Jondro, P.</creator><creator>Lerner, T. J.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</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>7X8</scope><scope>OTOTI</scope></search><sort><creationdate>19950605</creationdate><title>Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL)</title><author>Haines, J. L. ; Boustany, R.-M. N. ; Worster, T. ; Ter-Minassian, M. ; Jondro, P. ; Lerner, T. J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3918-f5100db12568badb6a338c760964d106c6abbbeb0aca94ade23cfc6cbe5bd51f3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Biological and medical sciences</topic><topic>BIOLOGICAL MARKERS</topic><topic>BIOLOGY AND MEDICINE, BASIC STUDIES</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human</topic><topic>Chromosomes, Human, Pair 13</topic><topic>Chromosomes, Human, Pair 18</topic><topic>Chromosomes, Human, Pair 19</topic><topic>Chromosomes, Human, Pair 2</topic><topic>Chromosomes, Human, Pair 20</topic><topic>Chromosomes, Human, Pair 21</topic><topic>Chromosomes, Human, Pair 22</topic><topic>Chromosomes, Human, Pair 9</topic><topic>Computer Simulation</topic><topic>Errors of metabolism</topic><topic>exclusion</topic><topic>GENES</topic><topic>genetic linkage</topic><topic>GENETIC MAPPING</topic><topic>Genetic Markers</topic><topic>GENETICS</topic><topic>Genome, Human</topic><topic>HEREDITARY DISEASES</topic><topic>HUMAN CHROMOSOME 1</topic><topic>HUMAN CHROMOSOME 16</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>late-infantile neuronal ceroid lipofuscinosis</topic><topic>Lod Score</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Models, Genetic</topic><topic>NERVOUS SYSTEM DISEASES</topic><topic>Neuronal Ceroid-Lipofuscinoses - genetics</topic><topic>PATIENTS</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Proteins and glycoproteins</topic><topic>STATISTICS</topic><toplevel>online_resources</toplevel><creatorcontrib>Haines, J. L.</creatorcontrib><creatorcontrib>Boustany, R.-M. N.</creatorcontrib><creatorcontrib>Worster, T.</creatorcontrib><creatorcontrib>Ter-Minassian, M.</creatorcontrib><creatorcontrib>Jondro, P.</creatorcontrib><creatorcontrib>Lerner, T. J.</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>MEDLINE - Academic</collection><collection>OSTI.GOV</collection><jtitle>American Journal of Medical Genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Haines, J. L.</au><au>Boustany, R.-M. N.</au><au>Worster, T.</au><au>Ter-Minassian, M.</au><au>Jondro, P.</au><au>Lerner, T. J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL)</atitle><jtitle>American Journal of Medical Genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>1995-06-05</date><risdate>1995</risdate><volume>57</volume><issue>2</issue><spage>344</spage><epage>347</epage><pages>344-347</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><coden>AJMGDA</coden><abstract>The loci for the juvenile (CLN3) and infantile (CLN1) neuronal ceroid lipofuscinosis (NCL) types have been mapped by genetic linkage analysis to chromosome arms 16p and 1p, respectively. The late‐infantile defect CLN2 has not yet been mapped, although linkage analysis with tightly linked markers excludes it from both the JNCL and INCL loci. We have initiated a genome‐wide search for the LNCL gene, taking advantage of the large collection of highly polymorphic markers that has been developed through the Human Genome Initiative. The high degree of heterozygosity of these markers makes it feasible to carry out successful linkage analysis in small nuclear families, such as found in LNCL. Our current collection of LNCL pedigrees includes 19 US families and 11 Costa Rican families. To date, we have completed typing with over 50 markers on chromosomes 2, 9, 13, and 18–22. The results of this analysis formally exclude about 10% of the human genome as the location of the LNCL gene. © 1995 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>7668360</pmid><doi>10.1002/ajmg.1320570248</doi><tpages>4</tpages></addata></record> |
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| subjects | Biological and medical sciences BIOLOGICAL MARKERS BIOLOGY AND MEDICINE, BASIC STUDIES Chromosome Mapping Chromosomes, Human Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 18 Chromosomes, Human, Pair 19 Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 21 Chromosomes, Human, Pair 22 Chromosomes, Human, Pair 9 Computer Simulation Errors of metabolism exclusion GENES genetic linkage GENETIC MAPPING Genetic Markers GENETICS Genome, Human HEREDITARY DISEASES HUMAN CHROMOSOME 1 HUMAN CHROMOSOME 16 HUMAN CHROMOSOMES Humans late-infantile neuronal ceroid lipofuscinosis Lod Score Medical sciences Metabolic diseases Models, Genetic NERVOUS SYSTEM DISEASES Neuronal Ceroid-Lipofuscinoses - genetics PATIENTS Pedigree Polymerase Chain Reaction Proteins and glycoproteins STATISTICS |
| title | Genome-wide search for CLN2, the gene causing late-infantile neuronal ceroid-lipofuscinosis (LNCL) |
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