Heteroduplex Analysis Can Increase the Informativeness of PCR-Amplified VNTR Markers: Application Using a Marker Tightly Linked to the COL2A1 Gene
Variable number of tandem repeat (VNTR) polymorphisms provide a high degree of informativeness in linkage studies. Whether performed by standard methods or by polymerase chain reaction (PCR), analysis of these markers involves assessment of the length of each allele. VNTR alleles usually differ in t...
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| Veröffentlicht in: | Genomics (San Diego, Calif.) Calif.), 1993-02, Vol.15 (2), p.372-375 |
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| creator | Wilkin, Douglas J. Koprivnikar, Kathryn E. Cohn, Daniel H. |
| description | Variable number of tandem repeat (VNTR) polymorphisms provide a high degree of informativeness in linkage studies. Whether performed by standard methods or by polymerase chain reaction (PCR), analysis of these markers involves assessment of the length of each allele. VNTR alleles usually differ in the number of tandem repeats. During PCR amplification of a VNTR closely linked to the type II collagen gene (COL2A1), we identified allelic microheterogeneity through the analysis of unique heteroduplexes between amplified strands of the two alleles. In one large pedigree, heteroduplex analysis identified six COL2A1 alleles; standard methods would have identified only three distinct alleles. The identification of these heteroduplexes allowed the determination of the COL2A1 inheritance pattern in the family, which otherwise would have been noninformative. |
| doi_str_mv | 10.1006/geno.1993.1070 |
| format | Article |
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Whether performed by standard methods or by polymerase chain reaction (PCR), analysis of these markers involves assessment of the length of each allele. VNTR alleles usually differ in the number of tandem repeats. During PCR amplification of a VNTR closely linked to the type II collagen gene (COL2A1), we identified allelic microheterogeneity through the analysis of unique heteroduplexes between amplified strands of the two alleles. In one large pedigree, heteroduplex analysis identified six COL2A1 alleles; standard methods would have identified only three distinct alleles. 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Biological and molecular evolution ; Homozygote ; HUMAN CHROMOSOMES ; Humans ; Male ; MAPPING ; Methods, theories and miscellaneous ; Molecular Sequence Data ; Nucleic Acid Heteroduplexes ; ORGANIC COMPOUNDS ; Pedigree ; Polymerase Chain Reaction ; Polymorphism, Genetic ; PROTEINS ; Repetitive Sequences, Nucleic Acid ; SCLEROPROTEINS 550400 -- Genetics</subject><ispartof>Genomics (San Diego, Calif.), 1993-02, Vol.15 (2), p.372-375</ispartof><rights>1993 Academic Press</rights><rights>1993 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c395t-8dbafbc099e0cdcebe4f6f410859f905b55b68001f6af900ef6a43c7219d122e3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0888754383710700$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>230,314,776,780,881,3537,27901,27902,65534</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=4625509$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8449503$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.osti.gov/biblio/6879941$$D View this record in Osti.gov$$Hfree_for_read</backlink></links><search><creatorcontrib>Wilkin, Douglas J.</creatorcontrib><creatorcontrib>Koprivnikar, Kathryn E.</creatorcontrib><creatorcontrib>Cohn, Daniel H.</creatorcontrib><title>Heteroduplex Analysis Can Increase the Informativeness of PCR-Amplified VNTR Markers: Application Using a Marker Tightly Linked to the COL2A1 Gene</title><title>Genomics (San Diego, Calif.)</title><addtitle>Genomics</addtitle><description>Variable number of tandem repeat (VNTR) polymorphisms provide a high degree of informativeness in linkage studies. Whether performed by standard methods or by polymerase chain reaction (PCR), analysis of these markers involves assessment of the length of each allele. VNTR alleles usually differ in the number of tandem repeats. During PCR amplification of a VNTR closely linked to the type II collagen gene (COL2A1), we identified allelic microheterogeneity through the analysis of unique heteroduplexes between amplified strands of the two alleles. In one large pedigree, heteroduplex analysis identified six COL2A1 alleles; standard methods would have identified only three distinct alleles. The identification of these heteroduplexes allowed the determination of the COL2A1 inheritance pattern in the family, which otherwise would have been noninformative.</description><subject>Alleles</subject><subject>AMPLIFICATION</subject><subject>Base Sequence</subject><subject>BASIC BIOLOGICAL SCIENCES</subject><subject>Biological and medical sciences</subject><subject>BIOLOGICAL MARKERS</subject><subject>BIOLOGICAL VARIABILITY</subject><subject>BIOLOGY</subject><subject>Cells, Cultured</subject><subject>CHROMOSOMES</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>COLLAGEN</subject><subject>Collagen - genetics</subject><subject>DETECTION</subject><subject>DNA, Single-Stranded</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>GENES</subject><subject>GENETIC MAPPING</subject><subject>Genetic Markers</subject><subject>GENETIC VARIABILITY</subject><subject>GENETICS</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Homozygote</subject><subject>HUMAN CHROMOSOMES</subject><subject>Humans</subject><subject>Male</subject><subject>MAPPING</subject><subject>Methods, theories and miscellaneous</subject><subject>Molecular Sequence Data</subject><subject>Nucleic Acid Heteroduplexes</subject><subject>ORGANIC COMPOUNDS</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>PROTEINS</subject><subject>Repetitive Sequences, Nucleic Acid</subject><subject>SCLEROPROTEINS 550400 -- Genetics</subject><issn>0888-7543</issn><issn>1089-8646</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kU9v1DAQxS0EKsvClRuShRC3LHb-2tyiCNpKC0XVlqvlOONd08RO7WzFfg0-MQ4b9cZpNH6_eZrxQ-gtJRtKSPlpD9ZtKOdZbCvyDK0oYTxhZV4-RyvCGEuqIs9eolch_CKE8IylF-iC5TkvSLZCf65gAu-649jDb1xb2Z-CCbiRFl9b5UEGwNMBYqOdH-RkHsFCCNhp_KO5Teph7I020OGf33e3-Jv09-DDZ1yP8V1F3Fl8F4zdY7mIeGf2h6k_4a2x93Fucv_8m5ttWlN8Gd1foxda9gHeLHWN7r5-2TVXyfbm8rqpt4nKeDElrGulbhXhHIjqFLSQ61Ln8fyCa06KtijakhFCdSljTyDWPFNVSnlH0xSyNXp_9nVhMiIoM4E6KGctqEmUrOI8pxH6eIZG7x6OECYxmKCg76UFdwyiKkpacUYiuDmDyrsQPGgxejNIfxKUiDkpMScl5qTEnFQceLc4H9sBuid8iSbqHxZdBiV77aVVJjxheZkWRYxzjdgZg_hVjwb8fAlYBZ3x8yGdM__b4C_9Bq9E</recordid><startdate>19930201</startdate><enddate>19930201</enddate><creator>Wilkin, Douglas J.</creator><creator>Koprivnikar, Kathryn E.</creator><creator>Cohn, Daniel H.</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>19930201</creationdate><title>Heteroduplex Analysis Can Increase the Informativeness of PCR-Amplified VNTR Markers: Application Using a Marker Tightly Linked to the COL2A1 Gene</title><author>Wilkin, Douglas J. ; Koprivnikar, Kathryn E. ; Cohn, Daniel H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c395t-8dbafbc099e0cdcebe4f6f410859f905b55b68001f6af900ef6a43c7219d122e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Alleles</topic><topic>AMPLIFICATION</topic><topic>Base Sequence</topic><topic>BASIC BIOLOGICAL SCIENCES</topic><topic>Biological and medical sciences</topic><topic>BIOLOGICAL MARKERS</topic><topic>BIOLOGICAL VARIABILITY</topic><topic>BIOLOGY</topic><topic>Cells, Cultured</topic><topic>CHROMOSOMES</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>COLLAGEN</topic><topic>Collagen - genetics</topic><topic>DETECTION</topic><topic>DNA, Single-Stranded</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>GENES</topic><topic>GENETIC MAPPING</topic><topic>Genetic Markers</topic><topic>GENETIC VARIABILITY</topic><topic>GENETICS</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Homozygote</topic><topic>HUMAN CHROMOSOMES</topic><topic>Humans</topic><topic>Male</topic><topic>MAPPING</topic><topic>Methods, theories and miscellaneous</topic><topic>Molecular Sequence Data</topic><topic>Nucleic Acid Heteroduplexes</topic><topic>ORGANIC COMPOUNDS</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>PROTEINS</topic><topic>Repetitive Sequences, Nucleic Acid</topic><topic>SCLEROPROTEINS 550400 -- Genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wilkin, Douglas J.</creatorcontrib><creatorcontrib>Koprivnikar, Kathryn E.</creatorcontrib><creatorcontrib>Cohn, Daniel H.</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>Wilkin, Douglas J.</au><au>Koprivnikar, Kathryn E.</au><au>Cohn, Daniel H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Heteroduplex Analysis Can Increase the Informativeness of PCR-Amplified VNTR Markers: Application Using a Marker Tightly Linked to the COL2A1 Gene</atitle><jtitle>Genomics (San Diego, Calif.)</jtitle><addtitle>Genomics</addtitle><date>1993-02-01</date><risdate>1993</risdate><volume>15</volume><issue>2</issue><spage>372</spage><epage>375</epage><pages>372-375</pages><issn>0888-7543</issn><eissn>1089-8646</eissn><abstract>Variable number of tandem repeat (VNTR) polymorphisms provide a high degree of informativeness in linkage studies. Whether performed by standard methods or by polymerase chain reaction (PCR), analysis of these markers involves assessment of the length of each allele. VNTR alleles usually differ in the number of tandem repeats. During PCR amplification of a VNTR closely linked to the type II collagen gene (COL2A1), we identified allelic microheterogeneity through the analysis of unique heteroduplexes between amplified strands of the two alleles. In one large pedigree, heteroduplex analysis identified six COL2A1 alleles; standard methods would have identified only three distinct alleles. The identification of these heteroduplexes allowed the determination of the COL2A1 inheritance pattern in the family, which otherwise would have been noninformative.</abstract><cop>San Diego, CA</cop><pub>Elsevier Inc</pub><pmid>8449503</pmid><doi>10.1006/geno.1993.1070</doi><tpages>4</tpages></addata></record> |
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| ispartof | Genomics (San Diego, Calif.), 1993-02, Vol.15 (2), p.372-375 |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Alleles AMPLIFICATION Base Sequence BASIC BIOLOGICAL SCIENCES Biological and medical sciences BIOLOGICAL MARKERS BIOLOGICAL VARIABILITY BIOLOGY Cells, Cultured CHROMOSOMES Classical genetics, quantitative genetics, hybrids COLLAGEN Collagen - genetics DETECTION DNA, Single-Stranded Female Fundamental and applied biological sciences. Psychology GENES GENETIC MAPPING Genetic Markers GENETIC VARIABILITY GENETICS Genetics of eukaryotes. Biological and molecular evolution Homozygote HUMAN CHROMOSOMES Humans Male MAPPING Methods, theories and miscellaneous Molecular Sequence Data Nucleic Acid Heteroduplexes ORGANIC COMPOUNDS Pedigree Polymerase Chain Reaction Polymorphism, Genetic PROTEINS Repetitive Sequences, Nucleic Acid SCLEROPROTEINS 550400 -- Genetics |
| title | Heteroduplex Analysis Can Increase the Informativeness of PCR-Amplified VNTR Markers: Application Using a Marker Tightly Linked to the COL2A1 Gene |
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