Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q
Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to sudden, unexpected acoustic or tactile stimuli. STHE responds dra...
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| Veröffentlicht in: | American journal of human genetics 1992-12, Vol.51 (6), p.1334-1343 |
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| creator | RYAN, S. G DIXON, M. J NIGRO, M. A KELTS, A MARKAND, O. N TERRY, J. C SHIANG, R WASMUTH, J. J O'CONNELL, P |
| description | Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to sudden, unexpected acoustic or tactile stimuli. STHE responds dramatically to the benzodiazepine drug clonazepam, which acts at gamma-aminobutyric acid type A (GABA-A) receptors. The STHE locus (STHE) was recently assigned to chromosome 5q, on the basis of tight linkage to the colony-stimulating factor 1-receptor (CSF1-R) locus in a single large family. We performed linkage analysis in the original and three additional STHE pedigrees with eight chromosome 5q microsatellite markers and placed several of the most closely linked markers on an existing radiation hybrid (RH) map of the region. The results provide strong evidence for genetic locus homogeneity and assign STHE to a 5.9-cM interval defined by CSF1-R and D5S379, which are separated by an RH map distance of 74 centirays (roughly 2.2-3.7 Mb). Two polymorphic markers (D5S119 and D5S209) lie within this region, but they could not be ordered with respect to STHE. RH mapping eliminated the candidate genes GABRA1 and GABRG2, which encode GABA-A receptor components, by showing that they are telomeric to the target region. |
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G ; DIXON, M. J ; NIGRO, M. A ; KELTS, A ; MARKAND, O. N ; TERRY, J. C ; SHIANG, R ; WASMUTH, J. J ; O'CONNELL, P</creator><creatorcontrib>RYAN, S. G ; DIXON, M. J ; NIGRO, M. A ; KELTS, A ; MARKAND, O. N ; TERRY, J. C ; SHIANG, R ; WASMUTH, J. J ; O'CONNELL, P</creatorcontrib><description>Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to sudden, unexpected acoustic or tactile stimuli. STHE responds dramatically to the benzodiazepine drug clonazepam, which acts at gamma-aminobutyric acid type A (GABA-A) receptors. The STHE locus (STHE) was recently assigned to chromosome 5q, on the basis of tight linkage to the colony-stimulating factor 1-receptor (CSF1-R) locus in a single large family. We performed linkage analysis in the original and three additional STHE pedigrees with eight chromosome 5q microsatellite markers and placed several of the most closely linked markers on an existing radiation hybrid (RH) map of the region. The results provide strong evidence for genetic locus homogeneity and assign STHE to a 5.9-cM interval defined by CSF1-R and D5S379, which are separated by an RH map distance of 74 centirays (roughly 2.2-3.7 Mb). Two polymorphic markers (D5S119 and D5S209) lie within this region, but they could not be ordered with respect to STHE. RH mapping eliminated the candidate genes GABRA1 and GABRG2, which encode GABA-A receptor components, by showing that they are telomeric to the target region.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 1334371</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>AMINO ACIDS ; AMINOBUTYRIC ACID ; AUTONOMIC NERVOUS SYSTEM AGENTS ; Base Sequence ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; BIOLOGICAL MARKERS ; CARBOXYLIC ACIDS ; Cell Line, Transformed ; CENTRAL NERVOUS SYSTEM ; chromosome 5 ; Chromosome Mapping ; CHROMOSOMES ; Chromosomes, Human, Pair 5 ; Clonazepam - therapeutic use ; DISEASES ; Diseases of striated muscles. Neuromuscular diseases ; DISTANCE ; DNA, Single-Stranded ; DRUGS ; Female ; GENES ; Genetic Linkage ; GENETIC MAPPING ; Haplotypes ; HUMAN CHROMOSOME 5 ; HUMAN CHROMOSOMES ; Humans ; hyperekplexia ; linkage analysis ; Male ; man ; MAPPING ; Medical sciences ; MEMBRANE PROTEINS ; Molecular Sequence Data ; NERVOUS SYSTEM ; NERVOUS SYSTEM DISEASES ; Neurology ; NEUROREGULATORS ; ORGANIC ACIDS ; ORGANIC COMPOUNDS ; ORIGIN ; Pedigree ; PROTEINS 550400 -- Genetics ; RECEPTORS ; Receptors, GABA-A - drug effects ; Stiff-Person Syndrome - drug therapy ; Stiff-Person Syndrome - genetics ; STIMULI</subject><ispartof>American journal of human genetics, 1992-12, Vol.51 (6), p.1334-1343</ispartof><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682903/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682903/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,53793,53795</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4491873$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/1334371$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/6697792$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>RYAN, S. G</creatorcontrib><creatorcontrib>DIXON, M. J</creatorcontrib><creatorcontrib>NIGRO, M. A</creatorcontrib><creatorcontrib>KELTS, A</creatorcontrib><creatorcontrib>MARKAND, O. N</creatorcontrib><creatorcontrib>TERRY, J. C</creatorcontrib><creatorcontrib>SHIANG, R</creatorcontrib><creatorcontrib>WASMUTH, J. J</creatorcontrib><creatorcontrib>O'CONNELL, P</creatorcontrib><title>Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to sudden, unexpected acoustic or tactile stimuli. STHE responds dramatically to the benzodiazepine drug clonazepam, which acts at gamma-aminobutyric acid type A (GABA-A) receptors. The STHE locus (STHE) was recently assigned to chromosome 5q, on the basis of tight linkage to the colony-stimulating factor 1-receptor (CSF1-R) locus in a single large family. We performed linkage analysis in the original and three additional STHE pedigrees with eight chromosome 5q microsatellite markers and placed several of the most closely linked markers on an existing radiation hybrid (RH) map of the region. The results provide strong evidence for genetic locus homogeneity and assign STHE to a 5.9-cM interval defined by CSF1-R and D5S379, which are separated by an RH map distance of 74 centirays (roughly 2.2-3.7 Mb). Two polymorphic markers (D5S119 and D5S209) lie within this region, but they could not be ordered with respect to STHE. RH mapping eliminated the candidate genes GABRA1 and GABRG2, which encode GABA-A receptor components, by showing that they are telomeric to the target region.</description><subject>AMINO ACIDS</subject><subject>AMINOBUTYRIC ACID</subject><subject>AUTONOMIC NERVOUS SYSTEM AGENTS</subject><subject>Base Sequence</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>BIOLOGICAL MARKERS</subject><subject>CARBOXYLIC ACIDS</subject><subject>Cell Line, Transformed</subject><subject>CENTRAL NERVOUS SYSTEM</subject><subject>chromosome 5</subject><subject>Chromosome Mapping</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Human, Pair 5</subject><subject>Clonazepam - therapeutic use</subject><subject>DISEASES</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DISTANCE</subject><subject>DNA, Single-Stranded</subject><subject>DRUGS</subject><subject>Female</subject><subject>GENES</subject><subject>Genetic Linkage</subject><subject>GENETIC MAPPING</subject><subject>Haplotypes</subject><subject>HUMAN CHROMOSOME 5</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>hyperekplexia</subject><subject>linkage analysis</subject><subject>Male</subject><subject>man</subject><subject>MAPPING</subject><subject>Medical sciences</subject><subject>MEMBRANE PROTEINS</subject><subject>Molecular Sequence Data</subject><subject>NERVOUS SYSTEM</subject><subject>NERVOUS SYSTEM DISEASES</subject><subject>Neurology</subject><subject>NEUROREGULATORS</subject><subject>ORGANIC ACIDS</subject><subject>ORGANIC COMPOUNDS</subject><subject>ORIGIN</subject><subject>Pedigree</subject><subject>PROTEINS 550400 -- Genetics</subject><subject>RECEPTORS</subject><subject>Receptors, GABA-A - drug effects</subject><subject>Stiff-Person Syndrome - drug therapy</subject><subject>Stiff-Person Syndrome - genetics</subject><subject>STIMULI</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1992</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkV9LwzAUxYsoOqcfQSgivg3yr0nzIsjQKQgi6HPI0ts12iZdkol-eyOOoU_ChcA9P845l-wVE1xRMeMcVfvFBCFEZpJIcVQcx_iKEMY1oofFIaaUUYEnxdMCHCRrSu2aMujG6mS9K7vPZbBNOehxtG5V-rZMHeTtCAHexh4-rC4DrL7RPKYLfvDRD1BW65PioNV9hNPtOy1ebm-e53ezh8fF_fz6YeYpq1NuhQypGAUjNZGIguZGYqlbtOR1yzE1lUGtkEQsWZ3PkUgS3DRMEkIamvtPi6sf33GzHKAx4FLQvRqDHXT4VF5b9VdxtlMr_64wr78Ds8H5j4GPyapobALTGe8cmKQ4lyKHZ-hymxL8egMxqcFGA32vHfhNVIJSQRj7H8ScCkQqnMGz3713hbdfkvWLra6j0X0btDM27jDGJK5z6hc1AZTx</recordid><startdate>19921201</startdate><enddate>19921201</enddate><creator>RYAN, S. G</creator><creator>DIXON, M. J</creator><creator>NIGRO, M. A</creator><creator>KELTS, A</creator><creator>MARKAND, O. N</creator><creator>TERRY, J. C</creator><creator>SHIANG, R</creator><creator>WASMUTH, J. J</creator><creator>O'CONNELL, P</creator><general>University of Chicago Press</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7T3</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>OTOTI</scope><scope>5PM</scope></search><sort><creationdate>19921201</creationdate><title>Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q</title><author>RYAN, S. G ; DIXON, M. J ; NIGRO, M. A ; KELTS, A ; MARKAND, O. N ; TERRY, J. C ; SHIANG, R ; WASMUTH, J. J ; O'CONNELL, P</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-o348t-920c2543ec9a2903ea6c919af0b68f613c5c0f7927b4866090921dd49222d3133</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1992</creationdate><topic>AMINO ACIDS</topic><topic>AMINOBUTYRIC ACID</topic><topic>AUTONOMIC NERVOUS SYSTEM AGENTS</topic><topic>Base Sequence</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>BIOLOGICAL MARKERS</topic><topic>CARBOXYLIC ACIDS</topic><topic>Cell Line, Transformed</topic><topic>CENTRAL NERVOUS SYSTEM</topic><topic>chromosome 5</topic><topic>Chromosome Mapping</topic><topic>CHROMOSOMES</topic><topic>Chromosomes, Human, Pair 5</topic><topic>Clonazepam - therapeutic use</topic><topic>DISEASES</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>DISTANCE</topic><topic>DNA, Single-Stranded</topic><topic>DRUGS</topic><topic>Female</topic><topic>GENES</topic><topic>Genetic Linkage</topic><topic>GENETIC MAPPING</topic><topic>Haplotypes</topic><topic>HUMAN CHROMOSOME 5</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>hyperekplexia</topic><topic>linkage analysis</topic><topic>Male</topic><topic>man</topic><topic>MAPPING</topic><topic>Medical sciences</topic><topic>MEMBRANE PROTEINS</topic><topic>Molecular Sequence Data</topic><topic>NERVOUS SYSTEM</topic><topic>NERVOUS SYSTEM DISEASES</topic><topic>Neurology</topic><topic>NEUROREGULATORS</topic><topic>ORGANIC ACIDS</topic><topic>ORGANIC COMPOUNDS</topic><topic>ORIGIN</topic><topic>Pedigree</topic><topic>PROTEINS 550400 -- Genetics</topic><topic>RECEPTORS</topic><topic>Receptors, GABA-A - drug effects</topic><topic>Stiff-Person Syndrome - drug therapy</topic><topic>Stiff-Person Syndrome - genetics</topic><topic>STIMULI</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>RYAN, S. G</creatorcontrib><creatorcontrib>DIXON, M. J</creatorcontrib><creatorcontrib>NIGRO, M. A</creatorcontrib><creatorcontrib>KELTS, A</creatorcontrib><creatorcontrib>MARKAND, O. N</creatorcontrib><creatorcontrib>TERRY, J. C</creatorcontrib><creatorcontrib>SHIANG, R</creatorcontrib><creatorcontrib>WASMUTH, J. J</creatorcontrib><creatorcontrib>O'CONNELL, P</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Human Genome 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><collection>OSTI.GOV</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>RYAN, S. G</au><au>DIXON, M. J</au><au>NIGRO, M. A</au><au>KELTS, A</au><au>MARKAND, O. N</au><au>TERRY, J. C</au><au>SHIANG, R</au><au>WASMUTH, J. J</au><au>O'CONNELL, P</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1992-12-01</date><risdate>1992</risdate><volume>51</volume><issue>6</issue><spage>1334</spage><epage>1343</epage><pages>1334-1343</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to sudden, unexpected acoustic or tactile stimuli. STHE responds dramatically to the benzodiazepine drug clonazepam, which acts at gamma-aminobutyric acid type A (GABA-A) receptors. The STHE locus (STHE) was recently assigned to chromosome 5q, on the basis of tight linkage to the colony-stimulating factor 1-receptor (CSF1-R) locus in a single large family. We performed linkage analysis in the original and three additional STHE pedigrees with eight chromosome 5q microsatellite markers and placed several of the most closely linked markers on an existing radiation hybrid (RH) map of the region. The results provide strong evidence for genetic locus homogeneity and assign STHE to a 5.9-cM interval defined by CSF1-R and D5S379, which are separated by an RH map distance of 74 centirays (roughly 2.2-3.7 Mb). Two polymorphic markers (D5S119 and D5S209) lie within this region, but they could not be ordered with respect to STHE. RH mapping eliminated the candidate genes GABRA1 and GABRG2, which encode GABA-A receptor components, by showing that they are telomeric to the target region.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>1334371</pmid><tpages>10</tpages></addata></record> |
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| subjects | AMINO ACIDS AMINOBUTYRIC ACID AUTONOMIC NERVOUS SYSTEM AGENTS Base Sequence BASIC BIOLOGICAL SCIENCES Biological and medical sciences BIOLOGICAL MARKERS CARBOXYLIC ACIDS Cell Line, Transformed CENTRAL NERVOUS SYSTEM chromosome 5 Chromosome Mapping CHROMOSOMES Chromosomes, Human, Pair 5 Clonazepam - therapeutic use DISEASES Diseases of striated muscles. Neuromuscular diseases DISTANCE DNA, Single-Stranded DRUGS Female GENES Genetic Linkage GENETIC MAPPING Haplotypes HUMAN CHROMOSOME 5 HUMAN CHROMOSOMES Humans hyperekplexia linkage analysis Male man MAPPING Medical sciences MEMBRANE PROTEINS Molecular Sequence Data NERVOUS SYSTEM NERVOUS SYSTEM DISEASES Neurology NEUROREGULATORS ORGANIC ACIDS ORGANIC COMPOUNDS ORIGIN Pedigree PROTEINS 550400 -- Genetics RECEPTORS Receptors, GABA-A - drug effects Stiff-Person Syndrome - drug therapy Stiff-Person Syndrome - genetics STIMULI |
| title | Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q |
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