Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism
The gene for the α1(III) chain of type III collagen, COL3A1, has been previously mapped to human chromosome 2q24.3-q31 by in situ hybridization. Physical mapping by pulsed-field gel electrophoresis has demonstrated that COL3A1 lies within 35 kb of COL5A2. We genotyped the CEPH families at the COL3A1...
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Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 1994-03, Vol.20 (2), p.275-277 |
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description | The gene for the α1(III) chain of type III collagen, COL3A1, has been previously mapped to human chromosome 2q24.3-q31 by in situ hybridization. Physical mapping by pulsed-field gel electrophoresis has demonstrated that COL3A1 lies within 35 kb of COL5A2. We genotyped the CEPH families at the COL3A1 locus using a pentanucleotide repeat polymorphism within intron 25. We demonstrated significant linkage to 18 anonymous markers as well as the gene for carbamyl phosphate synthetase (CPSI), which we had previously mapped to this region. No recombination was seen between COL3A1 and COL5A2 (Z = 9.93 at θ = 0) or D2S24 (Z = 10.55 at θ = 0). The locus order is (D2S32-D2S138-D2S148)-(D2S24-COL5A2-COL3A1)-(D2S118-D2S161), with odds of 1:2300 for the next most likely order. These relationships are consistent with the physical mapping of COL3A1 to the distal portion of 2q and place it proximal to CPSI by means of multipoint analysis. These linkage relationships should prove useful in further studies of Ehlers-Danlos syndrome type IV and carbamyl phosphate synthetase I deficiency and provide an additional framework for localizing other genes in this region. |
doi_str_mv | 10.1006/geno.1994.1164 |
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Physical mapping by pulsed-field gel electrophoresis has demonstrated that COL3A1 lies within 35 kb of COL5A2. We genotyped the CEPH families at the COL3A1 locus using a pentanucleotide repeat polymorphism within intron 25. We demonstrated significant linkage to 18 anonymous markers as well as the gene for carbamyl phosphate synthetase (CPSI), which we had previously mapped to this region. No recombination was seen between COL3A1 and COL5A2 (Z = 9.93 at θ = 0) or D2S24 (Z = 10.55 at θ = 0). The locus order is (D2S32-D2S138-D2S148)-(D2S24-COL5A2-COL3A1)-(D2S118-D2S161), with odds of 1:2300 for the next most likely order. These relationships are consistent with the physical mapping of COL3A1 to the distal portion of 2q and place it proximal to CPSI by means of multipoint analysis. These linkage relationships should prove useful in further studies of Ehlers-Danlos syndrome type IV and carbamyl phosphate synthetase I deficiency and provide an additional framework for localizing other genes in this region.</description><identifier>ISSN: 0888-7543</identifier><identifier>EISSN: 1089-8646</identifier><identifier>DOI: 10.1006/geno.1994.1164</identifier><identifier>PMID: 8020975</identifier><language>eng</language><publisher>San Diego, CA: Elsevier Inc</publisher><subject>Base Sequence ; BASIC BIOLOGICAL SCIENCES ; Biological and medical sciences ; Chromosome Mapping ; CHROMOSOMES ; Chromosomes, Human, Pair 2 ; Classical genetics, quantitative genetics, hybrids ; COLLAGEN ; Collagen - genetics ; DISEASES ; DNA ; Fundamental and applied biological sciences. Psychology ; GENES ; GENETIC MAPPING ; Genetics of eukaryotes. Biological and molecular evolution ; HEREDITARY DISEASES ; Human ; HUMAN CHROMOSOME 2 ; HUMAN CHROMOSOMES ; Humans ; MAPPING ; Molecular Sequence Data ; ORGANIC COMPOUNDS ; Polymorphism, Genetic ; PROTEINS ; Repetitive Sequences, Nucleic Acid ; SCLEROPROTEINS 550400 -- Genetics ; SKELETAL DISEASES</subject><ispartof>Genomics (San Diego, Calif.), 1994-03, Vol.20 (2), p.275-277</ispartof><rights>1994 Academic Press</rights><rights>1994 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c395t-dac3efbaffad1a559c7b3cbf2e53258033ff10ecc6e2f59c9ff3e1e78be145e43</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1006/geno.1994.1164$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,780,784,885,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=3987355$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8020975$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/6902865$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Tiller, George E.</creatorcontrib><creatorcontrib>Polumbo, Paula A.</creatorcontrib><creatorcontrib>Summar, Marshall L.</creatorcontrib><title>Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>The gene for the α1(III) chain of type III collagen, COL3A1, has been previously mapped to human chromosome 2q24.3-q31 by in situ hybridization. Physical mapping by pulsed-field gel electrophoresis has demonstrated that COL3A1 lies within 35 kb of COL5A2. We genotyped the CEPH families at the COL3A1 locus using a pentanucleotide repeat polymorphism within intron 25. We demonstrated significant linkage to 18 anonymous markers as well as the gene for carbamyl phosphate synthetase (CPSI), which we had previously mapped to this region. No recombination was seen between COL3A1 and COL5A2 (Z = 9.93 at θ = 0) or D2S24 (Z = 10.55 at θ = 0). The locus order is (D2S32-D2S138-D2S148)-(D2S24-COL5A2-COL3A1)-(D2S118-D2S161), with odds of 1:2300 for the next most likely order. These relationships are consistent with the physical mapping of COL3A1 to the distal portion of 2q and place it proximal to CPSI by means of multipoint analysis. These linkage relationships should prove useful in further studies of Ehlers-Danlos syndrome type IV and carbamyl phosphate synthetase I deficiency and provide an additional framework for localizing other genes in this region.</description><subject>Base Sequence</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>Chromosome Mapping</subject><subject>CHROMOSOMES</subject><subject>Chromosomes, Human, Pair 2</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>COLLAGEN</subject><subject>Collagen - genetics</subject><subject>DISEASES</subject><subject>DNA</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>GENES</subject><subject>GENETIC MAPPING</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>HEREDITARY DISEASES</subject><subject>Human</subject><subject>HUMAN CHROMOSOME 2</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>MAPPING</subject><subject>Molecular Sequence Data</subject><subject>ORGANIC COMPOUNDS</subject><subject>Polymorphism, Genetic</subject><subject>PROTEINS</subject><subject>Repetitive Sequences, Nucleic Acid</subject><subject>SCLEROPROTEINS 550400 -- Genetics</subject><subject>SKELETAL DISEASES</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1994</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kcFv0zAUxi3ENLrBlRuShdA0Dil2HCf2cYrYVqkwhDquluM8t2aJndnppP73JGq1Gycfvt_7nr_3IfSRkiUlpPy2BR-WVMpiSWlZvEELSoTMRFmUb9GCCCGyihfsHbpI6S8hRDKRn6NzQXIiK75AT2vnn_QW8A89DM5vcbB43AG-Aw_Yhog3hwHwarXCdei6CfT4un5Ysxv6FY8B3-977XG9i6EPKfSA82f8mGYfjf_83PzGv0J36EMcdi7179GZ1V2CD6f3Ej3eft_U99n64W5V36wzwyQfs1YbBrbR1uqWas6lqRpmGpsDZzkXhDFrKQFjSsjtpEprGVCoRAO04FCwS_T56BvS6FQybgSzM8F7MKMqJclFySfo6ggNMTzvIY2qd8nAlNFD2CdVlbySVFQTuDyCJoaUIlg1RNfreFCUqLkCNVeg5grUXME08OnkvG96aF_x080n_ctJ18nozkbtjUuvGJPTUj5j4ojBdKoXB3FOAt5A6-IcpA3ufz_4B3s4oOs</recordid><startdate>19940315</startdate><enddate>19940315</enddate><creator>Tiller, George E.</creator><creator>Polumbo, Paula A.</creator><creator>Summar, Marshall L.</creator><general>Elsevier Inc</general><general>Elsevier</general><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>19940315</creationdate><title>Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism</title><author>Tiller, George E. ; Polumbo, Paula A. ; Summar, Marshall L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c395t-dac3efbaffad1a559c7b3cbf2e53258033ff10ecc6e2f59c9ff3e1e78be145e43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1994</creationdate><topic>Base Sequence</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>Chromosome Mapping</topic><topic>CHROMOSOMES</topic><topic>Chromosomes, Human, Pair 2</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>COLLAGEN</topic><topic>Collagen - genetics</topic><topic>DISEASES</topic><topic>DNA</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>GENES</topic><topic>GENETIC MAPPING</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>HEREDITARY DISEASES</topic><topic>Human</topic><topic>HUMAN CHROMOSOME 2</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>MAPPING</topic><topic>Molecular Sequence Data</topic><topic>ORGANIC COMPOUNDS</topic><topic>Polymorphism, Genetic</topic><topic>PROTEINS</topic><topic>Repetitive Sequences, Nucleic Acid</topic><topic>SCLEROPROTEINS 550400 -- Genetics</topic><topic>SKELETAL DISEASES</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Tiller, George E.</creatorcontrib><creatorcontrib>Polumbo, Paula A.</creatorcontrib><creatorcontrib>Summar, Marshall L.</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>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>OSTI.GOV</collection><jtitle>Genomics (San Diego, Calif.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Tiller, George E.</au><au>Polumbo, Paula A.</au><au>Summar, Marshall L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1994-03-15</date><risdate>1994</risdate><volume>20</volume><issue>2</issue><spage>275</spage><epage>277</epage><pages>275-277</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>The gene for the α1(III) chain of type III collagen, COL3A1, has been previously mapped to human chromosome 2q24.3-q31 by in situ hybridization. Physical mapping by pulsed-field gel electrophoresis has demonstrated that COL3A1 lies within 35 kb of COL5A2. We genotyped the CEPH families at the COL3A1 locus using a pentanucleotide repeat polymorphism within intron 25. We demonstrated significant linkage to 18 anonymous markers as well as the gene for carbamyl phosphate synthetase (CPSI), which we had previously mapped to this region. No recombination was seen between COL3A1 and COL5A2 (Z = 9.93 at θ = 0) or D2S24 (Z = 10.55 at θ = 0). The locus order is (D2S32-D2S138-D2S148)-(D2S24-COL5A2-COL3A1)-(D2S118-D2S161), with odds of 1:2300 for the next most likely order. These relationships are consistent with the physical mapping of COL3A1 to the distal portion of 2q and place it proximal to CPSI by means of multipoint analysis. These linkage relationships should prove useful in further studies of Ehlers-Danlos syndrome type IV and carbamyl phosphate synthetase I deficiency and provide an additional framework for localizing other genes in this region.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>8020975</pmid><doi>10.1006/geno.1994.1164</doi><tpages>3</tpages></addata></record> |
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subjects | Base Sequence BASIC BIOLOGICAL SCIENCES Biological and medical sciences Chromosome Mapping CHROMOSOMES Chromosomes, Human, Pair 2 Classical genetics, quantitative genetics, hybrids COLLAGEN Collagen - genetics DISEASES DNA Fundamental and applied biological sciences. Psychology GENES GENETIC MAPPING Genetics of eukaryotes. Biological and molecular evolution HEREDITARY DISEASES Human HUMAN CHROMOSOME 2 HUMAN CHROMOSOMES Humans MAPPING Molecular Sequence Data ORGANIC COMPOUNDS Polymorphism, Genetic PROTEINS Repetitive Sequences, Nucleic Acid SCLEROPROTEINS 550400 -- Genetics SKELETAL DISEASES |
title | Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism |
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