Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor
An ancestral haplotype on chromosome 2p24.1 described in an American sample with familial essential tremor (ET) was analyzed in a different ethnic sample from Singapore. Six polymorphic loci (etm1240, etm1231, etm1234, APOB, etm1241, and etm1242) in a 274‐kb interval within an ET gene candidate regi...
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| Veröffentlicht in: | Clinical genetics 2004-10, Vol.66 (4), p.353-357 |
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| creator | Higgins, JJ Lombardi, RQ Tan, EK Jankovic, J Pucilowska, J Rooney, JP |
| description | An ancestral haplotype on chromosome 2p24.1 described in an American sample with familial essential tremor (ET) was analyzed in a different ethnic sample from Singapore. Six polymorphic loci (etm1240, etm1231, etm1234, APOB, etm1241, and etm1242) in a 274‐kb interval within an ET gene candidate region (ETM2) were analyzed in Singaporean individuals with a family history of ET (n = 52) and compared to Singaporean controls older than age 65 (n = 49). The allele frequencies were significantly different between cases and controls for the loci etm1234 (p = 0.0001) and APOB (p = 0.0320). An extended haplotype formed by the loci etm1231, etm1234, and APOB occurred with a frequency of 31% in Singaporean cases and in 1.8% of elderly Singaporean controls (p = 0.0005). Haplotype studies in two different population samples suggest that a disease locus for ET lies near or within the 100‐kb interval between the loci etm1231 and APOB. |
| doi_str_mv | 10.1111/j.1399-0004.2004.00306.x |
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Six polymorphic loci (etm1240, etm1231, etm1234, APOB, etm1241, and etm1242) in a 274‐kb interval within an ET gene candidate region (ETM2) were analyzed in Singaporean individuals with a family history of ET (n = 52) and compared to Singaporean controls older than age 65 (n = 49). The allele frequencies were significantly different between cases and controls for the loci etm1234 (p = 0.0001) and APOB (p = 0.0320). An extended haplotype formed by the loci etm1231, etm1234, and APOB occurred with a frequency of 31% in Singaporean cases and in 1.8% of elderly Singaporean controls (p = 0.0005). Haplotype studies in two different population samples suggest that a disease locus for ET lies near or within the 100‐kb interval between the loci etm1231 and APOB.</description><identifier>ISSN: 0009-9163</identifier><identifier>EISSN: 1399-0004</identifier><identifier>DOI: 10.1111/j.1399-0004.2004.00306.x</identifier><identifier>PMID: 15355439</identifier><identifier>CODEN: CLGNAY</identifier><language>eng</language><publisher>Oxford, UK; Malden, USA: Munksgaard International Publishers</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Apolipoproteins B - genetics ; Biological and medical sciences ; Case-Control Studies ; Chromosomes ; Chromosomes, Human, Pair 2 ; Classical genetics, quantitative genetics, hybrids ; Comparative analysis ; essential tremor ; Essential Tremor - diagnosis ; Essential Tremor - epidemiology ; Essential Tremor - genetics ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Frequency ; Gene loci ; genetic markers ; Genetic Variation ; Genetics of eukaryotes. Biological and molecular evolution ; Genotype ; haplotypes ; Haplotypes - genetics ; Human ; Humans ; linkage disequilibrium ; Male ; Medical sciences ; Microsatellite Repeats ; Middle Aged ; Motor ability ; Nervous system (semeiology, syndromes) ; Nervous system as a whole ; Neurology ; pair 2 ; Population genetics ; Singapore - epidemiology</subject><ispartof>Clinical genetics, 2004-10, Vol.66 (4), p.353-357</ispartof><rights>2004 INIST-CNRS</rights><rights>Blackwell Munksgaard, 2004</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4596-d626bcfef788bf090db320e973075270ee722661604c7b8304b2dbb8648f56463</citedby><cites>FETCH-LOGICAL-c4596-d626bcfef788bf090db320e973075270ee722661604c7b8304b2dbb8648f56463</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1399-0004.2004.00306.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1399-0004.2004.00306.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16103365$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15355439$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Higgins, JJ</creatorcontrib><creatorcontrib>Lombardi, RQ</creatorcontrib><creatorcontrib>Tan, EK</creatorcontrib><creatorcontrib>Jankovic, J</creatorcontrib><creatorcontrib>Pucilowska, J</creatorcontrib><creatorcontrib>Rooney, JP</creatorcontrib><title>Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor</title><title>Clinical genetics</title><addtitle>Clin Genet</addtitle><description>An ancestral haplotype on chromosome 2p24.1 described in an American sample with familial essential tremor (ET) was analyzed in a different ethnic sample from Singapore. Six polymorphic loci (etm1240, etm1231, etm1234, APOB, etm1241, and etm1242) in a 274‐kb interval within an ET gene candidate region (ETM2) were analyzed in Singaporean individuals with a family history of ET (n = 52) and compared to Singaporean controls older than age 65 (n = 49). The allele frequencies were significantly different between cases and controls for the loci etm1234 (p = 0.0001) and APOB (p = 0.0320). An extended haplotype formed by the loci etm1231, etm1234, and APOB occurred with a frequency of 31% in Singaporean cases and in 1.8% of elderly Singaporean controls (p = 0.0005). Haplotype studies in two different population samples suggest that a disease locus for ET lies near or within the 100‐kb interval between the loci etm1231 and APOB.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Apolipoproteins B - genetics</subject><subject>Biological and medical sciences</subject><subject>Case-Control Studies</subject><subject>Chromosomes</subject><subject>Chromosomes, Human, Pair 2</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Comparative analysis</subject><subject>essential tremor</subject><subject>Essential Tremor - diagnosis</subject><subject>Essential Tremor - epidemiology</subject><subject>Essential Tremor - genetics</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Frequency</subject><subject>Gene loci</subject><subject>genetic markers</subject><subject>Genetic Variation</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genotype</subject><subject>haplotypes</subject><subject>Haplotypes - genetics</subject><subject>Human</subject><subject>Humans</subject><subject>linkage disequilibrium</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microsatellite Repeats</subject><subject>Middle Aged</subject><subject>Motor ability</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous system as a whole</subject><subject>Neurology</subject><subject>pair 2</subject><subject>Population genetics</subject><subject>Singapore - epidemiology</subject><issn>0009-9163</issn><issn>1399-0004</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkk1vEzEQhi0EomnhLyALCW4b_LG21xIXFKVppZQiWsSBg-XdzFIH7wf2rpr8-3pJ1Eqc6sPMWH7e0fjVIIQpmdN0Pm3nlGudEULyOZsCIZzI-e4Fmj0-vESzlHSmqeQn6DTGbbpyJfRrdEIFFyLneoZ-Xdjed8O-B2xb6_fRRWwHPNwBXt5eMey7aozYtdjiG9f-tn0XwLY42qb3gO_dcIdr2zjvrMcQI7TDVA0Bmi68Qa9q6yO8PeYz9ON8ebu4yNbXq8vFl3VW5ULLbCOZLKsaalUUZU002ZScEdCKEyWYIgCKMSmpJHmlyoKTvGSbsixkXtRC5pKfoY-Hvn3o_o4QB9O4WIH3toVujEbKQijJVALf_wduuzGkb0eTXFQ557JIUHGAqtDFGKA2fXCNDXtDiZncN1szmWwmkyddbv65b3ZJ-u7Yfywb2DwJj3Yn4MMRsLGyvg62rVx84iQlaQaRuM8H7t552D97ALNYLVOR5NlB7uIAu0e5DX-MVGkFzM-vK_NN3VwxTr-bNX8AM02s7Q</recordid><startdate>200410</startdate><enddate>200410</enddate><creator>Higgins, JJ</creator><creator>Lombardi, RQ</creator><creator>Tan, EK</creator><creator>Jankovic, J</creator><creator>Pucilowska, J</creator><creator>Rooney, JP</creator><general>Munksgaard International Publishers</general><general>Blackwell</general><general>Blackwell Publishing Ltd</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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200410</creationdate><title>Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor</title><author>Higgins, JJ ; Lombardi, RQ ; Tan, EK ; Jankovic, J ; Pucilowska, J ; Rooney, JP</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4596-d626bcfef788bf090db320e973075270ee722661604c7b8304b2dbb8648f56463</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Apolipoproteins B - genetics</topic><topic>Biological and medical sciences</topic><topic>Case-Control Studies</topic><topic>Chromosomes</topic><topic>Chromosomes, Human, Pair 2</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Comparative analysis</topic><topic>essential tremor</topic><topic>Essential Tremor - diagnosis</topic><topic>Essential Tremor - epidemiology</topic><topic>Essential Tremor - genetics</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Frequency</topic><topic>Gene loci</topic><topic>genetic markers</topic><topic>Genetic Variation</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genotype</topic><topic>haplotypes</topic><topic>Haplotypes - genetics</topic><topic>Human</topic><topic>Humans</topic><topic>linkage disequilibrium</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Microsatellite Repeats</topic><topic>Middle Aged</topic><topic>Motor ability</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous system as a whole</topic><topic>Neurology</topic><topic>pair 2</topic><topic>Population genetics</topic><topic>Singapore - epidemiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Higgins, JJ</creatorcontrib><creatorcontrib>Lombardi, RQ</creatorcontrib><creatorcontrib>Tan, EK</creatorcontrib><creatorcontrib>Jankovic, J</creatorcontrib><creatorcontrib>Pucilowska, J</creatorcontrib><creatorcontrib>Rooney, JP</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>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Clinical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Higgins, JJ</au><au>Lombardi, RQ</au><au>Tan, EK</au><au>Jankovic, J</au><au>Pucilowska, J</au><au>Rooney, JP</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor</atitle><jtitle>Clinical genetics</jtitle><addtitle>Clin Genet</addtitle><date>2004-10</date><risdate>2004</risdate><volume>66</volume><issue>4</issue><spage>353</spage><epage>357</epage><pages>353-357</pages><issn>0009-9163</issn><eissn>1399-0004</eissn><coden>CLGNAY</coden><abstract>An ancestral haplotype on chromosome 2p24.1 described in an American sample with familial essential tremor (ET) was analyzed in a different ethnic sample from Singapore. Six polymorphic loci (etm1240, etm1231, etm1234, APOB, etm1241, and etm1242) in a 274‐kb interval within an ET gene candidate region (ETM2) were analyzed in Singaporean individuals with a family history of ET (n = 52) and compared to Singaporean controls older than age 65 (n = 49). The allele frequencies were significantly different between cases and controls for the loci etm1234 (p = 0.0001) and APOB (p = 0.0320). An extended haplotype formed by the loci etm1231, etm1234, and APOB occurred with a frequency of 31% in Singaporean cases and in 1.8% of elderly Singaporean controls (p = 0.0005). Haplotype studies in two different population samples suggest that a disease locus for ET lies near or within the 100‐kb interval between the loci etm1231 and APOB.</abstract><cop>Oxford, UK; Malden, USA</cop><pub>Munksgaard International Publishers</pub><pmid>15355439</pmid><doi>10.1111/j.1399-0004.2004.00306.x</doi><tpages>5</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Apolipoproteins B - genetics Biological and medical sciences Case-Control Studies Chromosomes Chromosomes, Human, Pair 2 Classical genetics, quantitative genetics, hybrids Comparative analysis essential tremor Essential Tremor - diagnosis Essential Tremor - epidemiology Essential Tremor - genetics Female Fundamental and applied biological sciences. Psychology Gene Frequency Gene loci genetic markers Genetic Variation Genetics of eukaryotes. Biological and molecular evolution Genotype haplotypes Haplotypes - genetics Human Humans linkage disequilibrium Male Medical sciences Microsatellite Repeats Middle Aged Motor ability Nervous system (semeiology, syndromes) Nervous system as a whole Neurology pair 2 Population genetics Singapore - epidemiology |
| title | Haplotype analysis at the ETM2 locus in a Singaporean sample with familial essential tremor |
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