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Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers
The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q13, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We identified two new highly polymorphic microsatellite DNA markers--namely, AFM265wf5 (D5S629) and AFM281yh9...
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| Published in: | American journal of human genetics 1994-04, Vol.54 (4), p.687-694 |
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| Main Authors: | , , , , , , , , , , , , |
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| container_title | American journal of human genetics |
| container_volume | 54 |
| creator | CLERMONT, O BURLET, P LATHROP, M MUNNICH, A MELKI, J BURGLEN, L LEFEBVRE, S PASCAL, F MCPHERSON, J WASMUTH, J. J COHEN, D LE PASLIER, D WEISSENBACH, J |
| description | The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q13, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We identified two new highly polymorphic microsatellite DNA markers--namely, AFM265wf5 (D5S629) and AFM281yh9 (D5S637)--which are the closest markers to the SMA locus. Multilocus analysis by the location-score method was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for SMA is between locus D5S629 and the block D5S637/D5S351/MAP-1B/D5S112/D5S357. Genetic analysis of inbred SMA families, based on homozygosity by descent and physical mapping using mega-YACs, gave additional information for the loci order as follows: cen-D5S6-D5S125/D5S465-D5S435-D5S629-SMA-+ ++D5S637-D5S351-MAP-1B/D5S112-D5S357- D5S39-tel. These data give the direction for bidirectional walking in order to clone this interval and isolate the SMA gene. |
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J ; COHEN, D ; LE PASLIER, D ; WEISSENBACH, J</creator><creatorcontrib>CLERMONT, O ; BURLET, P ; LATHROP, M ; MUNNICH, A ; MELKI, J ; BURGLEN, L ; LEFEBVRE, S ; PASCAL, F ; MCPHERSON, J ; WASMUTH, J. J ; COHEN, D ; LE PASLIER, D ; WEISSENBACH, J</creatorcontrib><description>The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q13, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We identified two new highly polymorphic microsatellite DNA markers--namely, AFM265wf5 (D5S629) and AFM281yh9 (D5S637)--which are the closest markers to the SMA locus. Multilocus analysis by the location-score method was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for SMA is between locus D5S629 and the block D5S637/D5S351/MAP-1B/D5S112/D5S357. Genetic analysis of inbred SMA families, based on homozygosity by descent and physical mapping using mega-YACs, gave additional information for the loci order as follows: cen-D5S6-D5S125/D5S465-D5S435-D5S629-SMA-+ ++D5S637-D5S351-MAP-1B/D5S112-D5S357- D5S39-tel. These data give the direction for bidirectional walking in order to clone this interval and isolate the SMA gene.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>PMID: 8128967</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Chicago, IL: University of Chicago Press</publisher><subject>ATROPHY ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; CENTRAL NERVOUS SYSTEM ; Child ; chromosome 5 ; Chromosome Mapping - methods ; CHROMOSOMES ; Chromosomes, Artificial, Yeast ; Chromosomes, Human, Pair 5 ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; DISEASES ; Female ; genes ; Genetic Linkage ; GENETIC MAPPING ; Genetic Markers ; HEREDITARY DISEASES ; Homozygote ; HUMAN CHROMOSOME 5 ; HUMAN CHROMOSOMES ; Humans ; Male ; man ; MAPPING ; Medical sciences ; MUSCLES ; Muscular Atrophy, Spinal - genetics ; NERVOUS SYSTEM ; Neurology ; Original ; PATHOLOGICAL CHANGES 550400 -- Genetics ; Polymorphism, Genetic ; SPINAL CORD ; spinal muscular atrophy</subject><ispartof>American journal of human genetics, 1994-04, Vol.54 (4), p.687-694</ispartof><rights>1994 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/PMC1918112/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1918112/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4002233$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8128967$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/7182557$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>CLERMONT, O</creatorcontrib><creatorcontrib>BURLET, P</creatorcontrib><creatorcontrib>LATHROP, M</creatorcontrib><creatorcontrib>MUNNICH, A</creatorcontrib><creatorcontrib>MELKI, J</creatorcontrib><creatorcontrib>BURGLEN, L</creatorcontrib><creatorcontrib>LEFEBVRE, S</creatorcontrib><creatorcontrib>PASCAL, F</creatorcontrib><creatorcontrib>MCPHERSON, J</creatorcontrib><creatorcontrib>WASMUTH, J. J</creatorcontrib><creatorcontrib>COHEN, D</creatorcontrib><creatorcontrib>LE PASLIER, D</creatorcontrib><creatorcontrib>WEISSENBACH, J</creatorcontrib><title>Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q13, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We identified two new highly polymorphic microsatellite DNA markers--namely, AFM265wf5 (D5S629) and AFM281yh9 (D5S637)--which are the closest markers to the SMA locus. Multilocus analysis by the location-score method was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for SMA is between locus D5S629 and the block D5S637/D5S351/MAP-1B/D5S112/D5S357. Genetic analysis of inbred SMA families, based on homozygosity by descent and physical mapping using mega-YACs, gave additional information for the loci order as follows: cen-D5S6-D5S125/D5S465-D5S435-D5S629-SMA-+ ++D5S637-D5S351-MAP-1B/D5S112-D5S357- D5S39-tel. These data give the direction for bidirectional walking in order to clone this interval and isolate the SMA gene.</description><subject>ATROPHY</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>CENTRAL NERVOUS SYSTEM</subject><subject>Child</subject><subject>chromosome 5</subject><subject>Chromosome Mapping - methods</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Artificial, Yeast</subject><subject>Chromosomes, Human, Pair 5</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>DISEASES</subject><subject>Female</subject><subject>genes</subject><subject>Genetic Linkage</subject><subject>GENETIC MAPPING</subject><subject>Genetic Markers</subject><subject>HEREDITARY DISEASES</subject><subject>Homozygote</subject><subject>HUMAN CHROMOSOME 5</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>Male</subject><subject>man</subject><subject>MAPPING</subject><subject>Medical sciences</subject><subject>MUSCLES</subject><subject>Muscular Atrophy, Spinal - genetics</subject><subject>NERVOUS SYSTEM</subject><subject>Neurology</subject><subject>Original</subject><subject>PATHOLOGICAL CHANGES 550400 -- Genetics</subject><subject>Polymorphism, Genetic</subject><subject>SPINAL CORD</subject><subject>spinal muscular atrophy</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><recordid>eNqFkU9r3DAQxU1JSbZpP0JBlNCbwZJsSb4EQpr-gdBemrMYy-O1Gq3kSHKWvfSzVyFLaE89Dcx7-s0T71W1oR2XtRBNd1JtmqZhdc96eVa9SelX01CqGn5anSrKVC_kpvp9l5CEiWzRY7aGgB_JMh-SNeDIDpbF-i3JgbhgICPJM5JUdk_imszqIBLIMZQnT5Y1kQHzHtGTvA_E457Mdju7A1mCO-xCXOZy49P3q4KO9xjT2-r1BC7hu-M8r-4-3_y8_lrf_vjy7frqtg5M8FwrKJ8YWgoTqHEY5Cg5IJXAxklR08kWplaaVnSKUtGjZC1th3EwYy_aDgTy8-rymbusww5Hgz5HcHqJtgQ56ABW_6t4O-tteNS0p4XJCuDDMyCkbHUyNqOZTfAeTdaSKtZ1spg-Hq_E8LBiynpnk0HnwGNYk5aC95Q16r9GKlRXqqPF-P7v3C-Bj_0V_eKoQyqNTRG8senF1hYI45z_AQUap2E</recordid><startdate>19940401</startdate><enddate>19940401</enddate><creator>CLERMONT, O</creator><creator>BURLET, P</creator><creator>LATHROP, M</creator><creator>MUNNICH, A</creator><creator>MELKI, J</creator><creator>BURGLEN, L</creator><creator>LEFEBVRE, S</creator><creator>PASCAL, F</creator><creator>MCPHERSON, J</creator><creator>WASMUTH, J. J</creator><creator>COHEN, D</creator><creator>LE PASLIER, D</creator><creator>WEISSENBACH, J</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>7X8</scope><scope>OTOTI</scope><scope>5PM</scope></search><sort><creationdate>19940401</creationdate><title>Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers</title><author>CLERMONT, O ; BURLET, P ; LATHROP, M ; MUNNICH, A ; MELKI, J ; BURGLEN, L ; LEFEBVRE, S ; PASCAL, F ; MCPHERSON, J ; WASMUTH, J. 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Prion diseases</topic><topic>DISEASES</topic><topic>Female</topic><topic>genes</topic><topic>Genetic Linkage</topic><topic>GENETIC MAPPING</topic><topic>Genetic Markers</topic><topic>HEREDITARY DISEASES</topic><topic>Homozygote</topic><topic>HUMAN CHROMOSOME 5</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>Male</topic><topic>man</topic><topic>MAPPING</topic><topic>Medical sciences</topic><topic>MUSCLES</topic><topic>Muscular Atrophy, Spinal - genetics</topic><topic>NERVOUS SYSTEM</topic><topic>Neurology</topic><topic>Original</topic><topic>PATHOLOGICAL CHANGES 550400 -- Genetics</topic><topic>Polymorphism, Genetic</topic><topic>SPINAL CORD</topic><topic>spinal muscular atrophy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>CLERMONT, O</creatorcontrib><creatorcontrib>BURLET, P</creatorcontrib><creatorcontrib>LATHROP, M</creatorcontrib><creatorcontrib>MUNNICH, A</creatorcontrib><creatorcontrib>MELKI, J</creatorcontrib><creatorcontrib>BURGLEN, L</creatorcontrib><creatorcontrib>LEFEBVRE, S</creatorcontrib><creatorcontrib>PASCAL, F</creatorcontrib><creatorcontrib>MCPHERSON, J</creatorcontrib><creatorcontrib>WASMUTH, J. J</creatorcontrib><creatorcontrib>COHEN, D</creatorcontrib><creatorcontrib>LE PASLIER, D</creatorcontrib><creatorcontrib>WEISSENBACH, J</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>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>CLERMONT, O</au><au>BURLET, P</au><au>LATHROP, M</au><au>MUNNICH, A</au><au>MELKI, J</au><au>BURGLEN, L</au><au>LEFEBVRE, S</au><au>PASCAL, F</au><au>MCPHERSON, J</au><au>WASMUTH, J. J</au><au>COHEN, D</au><au>LE PASLIER, D</au><au>WEISSENBACH, J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>1994-04-01</date><risdate>1994</risdate><volume>54</volume><issue>4</issue><spage>687</spage><epage>694</epage><pages>687-694</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><abstract>The gene for autosomal recessive forms of spinal muscular atrophy (SMA) has recently been mapped to chromosome 5q13, within a 4-cM region between the blocks D5S465/D5S125 and MAP-1B/D5S112. We identified two new highly polymorphic microsatellite DNA markers--namely, AFM265wf5 (D5S629) and AFM281yh9 (D5S637)--which are the closest markers to the SMA locus. Multilocus analysis by the location-score method was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for SMA is between locus D5S629 and the block D5S637/D5S351/MAP-1B/D5S112/D5S357. Genetic analysis of inbred SMA families, based on homozygosity by descent and physical mapping using mega-YACs, gave additional information for the loci order as follows: cen-D5S6-D5S125/D5S465-D5S435-D5S629-SMA-+ ++D5S637-D5S351-MAP-1B/D5S112-D5S357- D5S39-tel. These data give the direction for bidirectional walking in order to clone this interval and isolate the SMA gene.</abstract><cop>Chicago, IL</cop><pub>University of Chicago Press</pub><pmid>8128967</pmid><tpages>8</tpages></addata></record> |
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| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 1994-04, Vol.54 (4), p.687-694 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1918112 |
| source | Open Access: PubMed Central |
| subjects | ATROPHY BASIC BIOLOGICAL SCIENCES Biological and medical sciences CENTRAL NERVOUS SYSTEM Child chromosome 5 Chromosome Mapping - methods CHROMOSOMES Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 5 Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases DISEASES Female genes Genetic Linkage GENETIC MAPPING Genetic Markers HEREDITARY DISEASES Homozygote HUMAN CHROMOSOME 5 HUMAN CHROMOSOMES Humans Male man MAPPING Medical sciences MUSCLES Muscular Atrophy, Spinal - genetics NERVOUS SYSTEM Neurology Original PATHOLOGICAL CHANGES 550400 -- Genetics Polymorphism, Genetic SPINAL CORD spinal muscular atrophy |
| title | Use of genetic and physical mapping to locate the spinal muscular atrophy locus between two new highly polymorphic DNA markers |
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