Linkage Analysis of Moyamoya Disease on Chromosome 6
Genetic factors have been suggested to contribute to the etiology of moyamoya disease. The authors have previously reported an association between moyamoya disease and several alleles for human leukocyte antigens (HLA). To further specify the genetic component of moyamoya disease, a linkage study of...
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Veröffentlicht in: | Journal of child neurology 2000-03, Vol.15 (3), p.179-182 |
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description | Genetic factors have been suggested to contribute to the etiology of moyamoya disease. The authors have previously reported an association between moyamoya disease and several alleles for human leukocyte antigens (HLA). To further specify the genetic component of moyamoya disease, a linkage study of moyamoya disease using markers on chromosome 6, where the HLA gene is located, was performed. The 15 microsatellite markers of chromosome 6 were studied in 20 affected sibling pairs. From an identical-by-descent analysis of these markers, an allele with possible linkage to moyamoya disease was identified. Sharing of the allele among affected members in 19 families was investigated, considering the haplotype. The marker, D6S441, might be linked to moyamoya disease. Considering the haplotype, the allele was shared among the affected members in 16 (82%) of the 19 families, but not in two others. In one family, sharing of the allele could not be determined because of low heterozygosity. Further studies are necessary to clarify multiple genetic factors that are definitely linked with moyamoya disease. (J Child Neurol 2000;15:179-182). |
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The authors have previously reported an association between moyamoya disease and several alleles for human leukocyte antigens (HLA). To further specify the genetic component of moyamoya disease, a linkage study of moyamoya disease using markers on chromosome 6, where the HLA gene is located, was performed. The 15 microsatellite markers of chromosome 6 were studied in 20 affected sibling pairs. From an identical-by-descent analysis of these markers, an allele with possible linkage to moyamoya disease was identified. Sharing of the allele among affected members in 19 families was investigated, considering the haplotype. The marker, D6S441, might be linked to moyamoya disease. Considering the haplotype, the allele was shared among the affected members in 16 (82%) of the 19 families, but not in two others. In one family, sharing of the allele could not be determined because of low heterozygosity. Further studies are necessary to clarify multiple genetic factors that are definitely linked with moyamoya disease. (J Child Neurol 2000;15:179-182).</description><identifier>ISSN: 0883-0738</identifier><identifier>EISSN: 1708-8283</identifier><identifier>DOI: 10.1177/088307380001500307</identifier><identifier>PMID: 10757474</identifier><identifier>CODEN: JOCNEE</identifier><language>eng</language><publisher>Thousand Oaks, CA: Sage Publications</publisher><subject>Alleles ; Child ; Chromosome Mapping ; Chromosomes, Human, Pair 6 ; Communicable Diseases ; Etiology ; Family (Sociological Unit) ; Female ; Genetic Carrier Screening ; Genetic Markers - genetics ; Genetics ; Guidelines ; Haplotypes ; HLA Antigens - genetics ; Humans ; Male ; Microsatellite Repeats ; Moyamoya Disease - diagnosis ; Moyamoya Disease - genetics ; Parents ; Patients ; Pedigree ; Research Committees ; Siblings ; Twins</subject><ispartof>Journal of child neurology, 2000-03, Vol.15 (3), p.179-182</ispartof><rights>Copyright Decker Periodicals, Inc. Mar 2000</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c463t-994a342513110eefc7b52b9a748b1082c39ffdd95b3b4b493aebc34197c678f83</citedby><cites>FETCH-LOGICAL-c463t-994a342513110eefc7b52b9a748b1082c39ffdd95b3b4b493aebc34197c678f83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.1177/088307380001500307$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.1177/088307380001500307$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>314,780,784,21818,27923,27924,43620,43621</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10757474$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Inoue, Takuya K.</creatorcontrib><creatorcontrib>Ikezaki, Kiyonobu</creatorcontrib><creatorcontrib>Sasazuki, Takehiko</creatorcontrib><creatorcontrib>Matsushima, Toshio</creatorcontrib><creatorcontrib>Fukui, Masashi</creatorcontrib><title>Linkage Analysis of Moyamoya Disease on Chromosome 6</title><title>Journal of child neurology</title><addtitle>J Child Neurol</addtitle><description>Genetic factors have been suggested to contribute to the etiology of moyamoya disease. The authors have previously reported an association between moyamoya disease and several alleles for human leukocyte antigens (HLA). To further specify the genetic component of moyamoya disease, a linkage study of moyamoya disease using markers on chromosome 6, where the HLA gene is located, was performed. The 15 microsatellite markers of chromosome 6 were studied in 20 affected sibling pairs. From an identical-by-descent analysis of these markers, an allele with possible linkage to moyamoya disease was identified. Sharing of the allele among affected members in 19 families was investigated, considering the haplotype. The marker, D6S441, might be linked to moyamoya disease. Considering the haplotype, the allele was shared among the affected members in 16 (82%) of the 19 families, but not in two others. In one family, sharing of the allele could not be determined because of low heterozygosity. Further studies are necessary to clarify multiple genetic factors that are definitely linked with moyamoya disease. (J Child Neurol 2000;15:179-182).</description><subject>Alleles</subject><subject>Child</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 6</subject><subject>Communicable Diseases</subject><subject>Etiology</subject><subject>Family (Sociological Unit)</subject><subject>Female</subject><subject>Genetic Carrier Screening</subject><subject>Genetic Markers - genetics</subject><subject>Genetics</subject><subject>Guidelines</subject><subject>Haplotypes</subject><subject>HLA Antigens - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Microsatellite Repeats</subject><subject>Moyamoya Disease - diagnosis</subject><subject>Moyamoya Disease - genetics</subject><subject>Parents</subject><subject>Patients</subject><subject>Pedigree</subject><subject>Research Committees</subject><subject>Siblings</subject><subject>Twins</subject><issn>0883-0738</issn><issn>1708-8283</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</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>eNqF0E1LwzAYB_AgipvTL-BBigdvdc-TlyU5js03mHjRc0m6VDvbZjbrYd_ejA4UBSWE5PB7_iF_Qs4RrhGlHINSDCRTAIACIN4PyBAlqFRRxQ7JcAfSnRiQkxBW0Smh4ZgMEKSQXPIh4YuyeTevLpk2ptqGMiS-SB791tRxJ_MyOBNc4ptk9tb62gdfu2RySo4KUwV3tj9H5OX25nl2ny6e7h5m00Wa8wnbpFpzwzgVyBDBuSKXVlCrjeTKIiiaM10Uy6UWllluuWbG2Zxx1DKfSFUoNiJXfe669R-dC5usLkPuqso0znchkwggFLB_IcW4BMUIL3_Ale_a-PVoKHCUGnREtEd560NoXZGt27I27TZDyHbNZ7-bj0MX--TO1m75baSvOoJxD0Ks--vZPyI_AT3UiAg</recordid><startdate>20000301</startdate><enddate>20000301</enddate><creator>Inoue, Takuya K.</creator><creator>Ikezaki, Kiyonobu</creator><creator>Sasazuki, Takehiko</creator><creator>Matsushima, Toshio</creator><creator>Fukui, Masashi</creator><general>Sage Publications</general><general>SAGE PUBLICATIONS, INC</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>0-V</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88B</scope><scope>88E</scope><scope>88G</scope><scope>8A4</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8FQ</scope><scope>8FV</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>ALSLI</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>CJNVE</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9-</scope><scope>K9.</scope><scope>M0P</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M3G</scope><scope>PQEDU</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20000301</creationdate><title>Linkage Analysis of Moyamoya Disease on Chromosome 6</title><author>Inoue, Takuya K. ; Ikezaki, Kiyonobu ; Sasazuki, Takehiko ; Matsushima, Toshio ; Fukui, Masashi</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c463t-994a342513110eefc7b52b9a748b1082c39ffdd95b3b4b493aebc34197c678f83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Alleles</topic><topic>Child</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 6</topic><topic>Communicable Diseases</topic><topic>Etiology</topic><topic>Family (Sociological Unit)</topic><topic>Female</topic><topic>Genetic Carrier Screening</topic><topic>Genetic Markers - genetics</topic><topic>Genetics</topic><topic>Guidelines</topic><topic>Haplotypes</topic><topic>HLA Antigens - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Microsatellite Repeats</topic><topic>Moyamoya Disease - diagnosis</topic><topic>Moyamoya Disease - genetics</topic><topic>Parents</topic><topic>Patients</topic><topic>Pedigree</topic><topic>Research Committees</topic><topic>Siblings</topic><topic>Twins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Inoue, Takuya K.</creatorcontrib><creatorcontrib>Ikezaki, Kiyonobu</creatorcontrib><creatorcontrib>Sasazuki, Takehiko</creatorcontrib><creatorcontrib>Matsushima, Toshio</creatorcontrib><creatorcontrib>Fukui, Masashi</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 Social Sciences Premium Collection</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Education Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Education Periodicals</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Canadian Business & Current Affairs Database</collection><collection>Canadian Business & Current Affairs Database (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>Social Science Premium Collection</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Education Collection</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Education Database</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>CBCA Reference & Current Events</collection><collection>ProQuest One Education</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>ProQuest One Psychology</collection><collection>ProQuest Central Basic</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>Journal of child neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Inoue, Takuya K.</au><au>Ikezaki, Kiyonobu</au><au>Sasazuki, Takehiko</au><au>Matsushima, Toshio</au><au>Fukui, Masashi</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Linkage Analysis of Moyamoya Disease on Chromosome 6</atitle><jtitle>Journal of child neurology</jtitle><addtitle>J Child Neurol</addtitle><date>2000-03-01</date><risdate>2000</risdate><volume>15</volume><issue>3</issue><spage>179</spage><epage>182</epage><pages>179-182</pages><issn>0883-0738</issn><eissn>1708-8283</eissn><coden>JOCNEE</coden><abstract>Genetic factors have been suggested to contribute to the etiology of moyamoya disease. The authors have previously reported an association between moyamoya disease and several alleles for human leukocyte antigens (HLA). To further specify the genetic component of moyamoya disease, a linkage study of moyamoya disease using markers on chromosome 6, where the HLA gene is located, was performed. The 15 microsatellite markers of chromosome 6 were studied in 20 affected sibling pairs. From an identical-by-descent analysis of these markers, an allele with possible linkage to moyamoya disease was identified. Sharing of the allele among affected members in 19 families was investigated, considering the haplotype. The marker, D6S441, might be linked to moyamoya disease. Considering the haplotype, the allele was shared among the affected members in 16 (82%) of the 19 families, but not in two others. In one family, sharing of the allele could not be determined because of low heterozygosity. Further studies are necessary to clarify multiple genetic factors that are definitely linked with moyamoya disease. (J Child Neurol 2000;15:179-182).</abstract><cop>Thousand Oaks, CA</cop><pub>Sage Publications</pub><pmid>10757474</pmid><doi>10.1177/088307380001500307</doi><tpages>4</tpages></addata></record> |
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subjects | Alleles Child Chromosome Mapping Chromosomes, Human, Pair 6 Communicable Diseases Etiology Family (Sociological Unit) Female Genetic Carrier Screening Genetic Markers - genetics Genetics Guidelines Haplotypes HLA Antigens - genetics Humans Male Microsatellite Repeats Moyamoya Disease - diagnosis Moyamoya Disease - genetics Parents Patients Pedigree Research Committees Siblings Twins |
title | Linkage Analysis of Moyamoya Disease on Chromosome 6 |
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