Polymorphisms of three new microsatellite sites of the dystrophin gene
To look for novel microsatellites in the dystrophin gene for the diagnosis of Duchenne muscular dystrophy, candidate microsatellite sites in the dystrophin gene were analyzed with the SSRHunter software and were also genotyped. Among the 15 candidate microsatellite sites, three novel microsatellite...
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Veröffentlicht in: | Genetics and molecular research 2011-01, Vol.10 (2), p.744-751 |
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description | To look for novel microsatellites in the dystrophin gene for the diagnosis of Duchenne muscular dystrophy, candidate microsatellite sites in the dystrophin gene were analyzed with the SSRHunter software and were also genotyped. Among the 15 candidate microsatellite sites, three novel microsatellite sites in the 60th, 30th, and 2nd intron were found to have a high degree of polymorphism. We submitted these three new loci to the European Molecular Biology Laboratory, under accession Nos. FN547040, FN547041 and FN557526, which were called DXSDMD-in60, DXSDMD-in30 and DXSDMD-in2, respectively. In these three loci, we found 9, 6 and 11 alleles, respectively, in the 205 individuals. In addition, we also detected 20, 19 and 20 genotypes for the three loci in female samples, with a polymorphism information content of more than 0.600. In conclusion, the three microsatellite sites in the intron region of the dystrophin gene have a high degree of polymorphism, and they can be used in population genetics, as well as to provide a theoretical basis for genetic diagnosis and elucidation of molecular mechanisms in Duchenne muscular dystrophy. |
doi_str_mv | 10.4238/vol10-2gmr962 |
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Among the 15 candidate microsatellite sites, three novel microsatellite sites in the 60th, 30th, and 2nd intron were found to have a high degree of polymorphism. We submitted these three new loci to the European Molecular Biology Laboratory, under accession Nos. FN547040, FN547041 and FN557526, which were called DXSDMD-in60, DXSDMD-in30 and DXSDMD-in2, respectively. In these three loci, we found 9, 6 and 11 alleles, respectively, in the 205 individuals. In addition, we also detected 20, 19 and 20 genotypes for the three loci in female samples, with a polymorphism information content of more than 0.600. In conclusion, the three microsatellite sites in the intron region of the dystrophin gene have a high degree of polymorphism, and they can be used in population genetics, as well as to provide a theoretical basis for genetic diagnosis and elucidation of molecular mechanisms in Duchenne muscular dystrophy.</description><identifier>ISSN: 1676-5680</identifier><identifier>EISSN: 1676-5680</identifier><identifier>DOI: 10.4238/vol10-2gmr962</identifier><identifier>PMID: 21523654</identifier><language>eng</language><publisher>Brazil</publisher><subject>Alleles ; Base Sequence ; Dystrophin - genetics ; Female ; Genetic Testing ; Genetics, Population ; Genotype ; Humans ; Male ; Microsatellite Repeats ; Molecular Diagnostic Techniques ; Molecular Sequence Data ; Muscular Dystrophy, Duchenne - genetics ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Sequence Analysis, DNA</subject><ispartof>Genetics and molecular research, 2011-01, Vol.10 (2), p.744-751</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c364t-19f7b05f0bccd97ed57c07e87b87beb4266e3cf10ed949d91b3bceaf79134e753</citedby><cites>FETCH-LOGICAL-c364t-19f7b05f0bccd97ed57c07e87b87beb4266e3cf10ed949d91b3bceaf79134e753</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27903,27904</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21523654$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Sun, R F</creatorcontrib><creatorcontrib>Zhu, Y S</creatorcontrib><creatorcontrib>Feng, J L</creatorcontrib><creatorcontrib>Tian, Z</creatorcontrib><creatorcontrib>Kuang, W J</creatorcontrib><creatorcontrib>Liu, Y</creatorcontrib><creatorcontrib>Zhang, H B</creatorcontrib><creatorcontrib>Li, S B</creatorcontrib><title>Polymorphisms of three new microsatellite sites of the dystrophin gene</title><title>Genetics and molecular research</title><addtitle>Genet Mol Res</addtitle><description>To look for novel microsatellites in the dystrophin gene for the diagnosis of Duchenne muscular dystrophy, candidate microsatellite sites in the dystrophin gene were analyzed with the SSRHunter software and were also genotyped. Among the 15 candidate microsatellite sites, three novel microsatellite sites in the 60th, 30th, and 2nd intron were found to have a high degree of polymorphism. We submitted these three new loci to the European Molecular Biology Laboratory, under accession Nos. FN547040, FN547041 and FN557526, which were called DXSDMD-in60, DXSDMD-in30 and DXSDMD-in2, respectively. In these three loci, we found 9, 6 and 11 alleles, respectively, in the 205 individuals. In addition, we also detected 20, 19 and 20 genotypes for the three loci in female samples, with a polymorphism information content of more than 0.600. In conclusion, the three microsatellite sites in the intron region of the dystrophin gene have a high degree of polymorphism, and they can be used in population genetics, as well as to provide a theoretical basis for genetic diagnosis and elucidation of molecular mechanisms in Duchenne muscular dystrophy.</description><subject>Alleles</subject><subject>Base Sequence</subject><subject>Dystrophin - genetics</subject><subject>Female</subject><subject>Genetic Testing</subject><subject>Genetics, Population</subject><subject>Genotype</subject><subject>Humans</subject><subject>Male</subject><subject>Microsatellite Repeats</subject><subject>Molecular Diagnostic Techniques</subject><subject>Molecular Sequence Data</subject><subject>Muscular Dystrophy, Duchenne - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Genetic</subject><subject>Sequence Analysis, DNA</subject><issn>1676-5680</issn><issn>1676-5680</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kD1PwzAQQC0EoqUwsqJssAT8FTseUUUBqRIMMFuxc2mDkrjYCaj_HpcGxIR0urvh3enuIXRO8DWnLL_5cA3BKV21Xgl6gKZESJFmIseHf_oJOgnhDWOa8RwfowklGWUi41O0eHbNtnV-s65DGxJXJf3aAyQdfCZtbb0LRQ9NU_eQhJhGApJyG3rv4lSXrKCDU3RUFU2As7HO0Ovi7mX-kC6f7h_nt8vUMsH7lKhKGpxV2FhbKgllJi2WkEsTAwynQgCzFcFQKq5KRQwzFopKKsI4yIzN0OV-78a79wFCr9s62Hhg0YEbgs4FU5jSWGbo6l-ScKaiA4rziKZ7dPdu8FDpja_bwm81wXonWX9L1qPkyF-MqwfTQvlL_1hlX58leew</recordid><startdate>20110101</startdate><enddate>20110101</enddate><creator>Sun, R F</creator><creator>Zhu, Y S</creator><creator>Feng, J L</creator><creator>Tian, Z</creator><creator>Kuang, W J</creator><creator>Liu, Y</creator><creator>Zhang, H B</creator><creator>Li, S B</creator><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>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20110101</creationdate><title>Polymorphisms of three new microsatellite sites of the dystrophin gene</title><author>Sun, R F ; Zhu, Y S ; Feng, J L ; Tian, Z ; Kuang, W J ; Liu, Y ; Zhang, H B ; Li, S B</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c364t-19f7b05f0bccd97ed57c07e87b87beb4266e3cf10ed949d91b3bceaf79134e753</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Alleles</topic><topic>Base Sequence</topic><topic>Dystrophin - genetics</topic><topic>Female</topic><topic>Genetic Testing</topic><topic>Genetics, Population</topic><topic>Genotype</topic><topic>Humans</topic><topic>Male</topic><topic>Microsatellite Repeats</topic><topic>Molecular Diagnostic Techniques</topic><topic>Molecular Sequence Data</topic><topic>Muscular Dystrophy, Duchenne - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Genetic</topic><topic>Sequence Analysis, DNA</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sun, R F</creatorcontrib><creatorcontrib>Zhu, Y S</creatorcontrib><creatorcontrib>Feng, J L</creatorcontrib><creatorcontrib>Tian, Z</creatorcontrib><creatorcontrib>Kuang, W J</creatorcontrib><creatorcontrib>Liu, Y</creatorcontrib><creatorcontrib>Zhang, H B</creatorcontrib><creatorcontrib>Li, S B</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</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>Genetics and molecular research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sun, R F</au><au>Zhu, Y S</au><au>Feng, J L</au><au>Tian, Z</au><au>Kuang, W J</au><au>Liu, Y</au><au>Zhang, H B</au><au>Li, S B</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Polymorphisms of three new microsatellite sites of the dystrophin gene</atitle><jtitle>Genetics and molecular research</jtitle><addtitle>Genet Mol Res</addtitle><date>2011-01-01</date><risdate>2011</risdate><volume>10</volume><issue>2</issue><spage>744</spage><epage>751</epage><pages>744-751</pages><issn>1676-5680</issn><eissn>1676-5680</eissn><abstract>To look for novel microsatellites in the dystrophin gene for the diagnosis of Duchenne muscular dystrophy, candidate microsatellite sites in the dystrophin gene were analyzed with the SSRHunter software and were also genotyped. Among the 15 candidate microsatellite sites, three novel microsatellite sites in the 60th, 30th, and 2nd intron were found to have a high degree of polymorphism. We submitted these three new loci to the European Molecular Biology Laboratory, under accession Nos. FN547040, FN547041 and FN557526, which were called DXSDMD-in60, DXSDMD-in30 and DXSDMD-in2, respectively. In these three loci, we found 9, 6 and 11 alleles, respectively, in the 205 individuals. In addition, we also detected 20, 19 and 20 genotypes for the three loci in female samples, with a polymorphism information content of more than 0.600. In conclusion, the three microsatellite sites in the intron region of the dystrophin gene have a high degree of polymorphism, and they can be used in population genetics, as well as to provide a theoretical basis for genetic diagnosis and elucidation of molecular mechanisms in Duchenne muscular dystrophy.</abstract><cop>Brazil</cop><pmid>21523654</pmid><doi>10.4238/vol10-2gmr962</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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subjects | Alleles Base Sequence Dystrophin - genetics Female Genetic Testing Genetics, Population Genotype Humans Male Microsatellite Repeats Molecular Diagnostic Techniques Molecular Sequence Data Muscular Dystrophy, Duchenne - genetics Polymerase Chain Reaction Polymorphism, Genetic Sequence Analysis, DNA |
title | Polymorphisms of three new microsatellite sites of the dystrophin gene |
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