Reduction in Size of the Myotonic Dystrophy Trinucleotide Repeat During Transmission
Myotonic dystrophy (DM) is an autosomal-dominant disorder that affects 1 in 8000 individuals. Amplification of an unstable trinucleotide CTG repeat, located within the 3′ untranslated region of a gene, correlates with a more severe DM phenotype. In three cases, the number of CTG repeats was reduced...
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| Veröffentlicht in: | Science (American Association for the Advancement of Science) 1993-02, Vol.259 (5096), p.809-812 |
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| container_issue | 5096 |
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| container_title | Science (American Association for the Advancement of Science) |
| container_volume | 259 |
| creator | O'Hoy, Kim L. Tsilfidis, Catherine Mahadevan, Mani S. Neville, Catherine E. Barceló, Juana Alasdair G. W. Hunter Korneluk, Robert G. |
| description | Myotonic dystrophy (DM) is an autosomal-dominant disorder that affects 1 in 8000 individuals. Amplification of an unstable trinucleotide CTG repeat, located within the 3′ untranslated region of a gene, correlates with a more severe DM phenotype. In three cases, the number of CTG repeats was reduced during the transmission of the DM allele; in one of these cases, the number was reduced to within the normal range and correlated at least with a delay in the onset of clinical signs of DM. Haplotype data of six polymorphic markers in the DM gene region indicate that, in this latter case, two stretches of the affected chromosome had been exchanged with that region of the wild-type chromosome. |
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Hunter ; Korneluk, Robert G.</creator><creatorcontrib>O'Hoy, Kim L. ; Tsilfidis, Catherine ; Mahadevan, Mani S. ; Neville, Catherine E. ; Barceló, Juana ; Alasdair G. W. Hunter ; Korneluk, Robert G.</creatorcontrib><description>Myotonic dystrophy (DM) is an autosomal-dominant disorder that affects 1 in 8000 individuals. Amplification of an unstable trinucleotide CTG repeat, located within the 3′ untranslated region of a gene, correlates with a more severe DM phenotype. In three cases, the number of CTG repeats was reduced during the transmission of the DM allele; in one of these cases, the number was reduced to within the normal range and correlated at least with a delay in the onset of clinical signs of DM. Haplotype data of six polymorphic markers in the DM gene region indicate that, in this latter case, two stretches of the affected chromosome had been exchanged with that region of the wild-type chromosome.</description><identifier>ISSN: 0036-8075</identifier><identifier>EISSN: 1095-9203</identifier><language>eng</language><publisher>American Society for the Advancement of Science</publisher><subject>Alleles ; Chromosomes ; Gene conversion ; Genes ; Genetic loci ; Genomics ; Haplotypes ; Medical genetics ; Myotonic dystrophy ; Polymerase chain reaction</subject><ispartof>Science (American Association for the Advancement of Science), 1993-02, Vol.259 (5096), p.809-812</ispartof><rights>Copyright 1993 American Association for the Advancement of Science</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.jstor.org/stable/pdf/2880840$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/2880840$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>314,780,784,803,58017,58250</link.rule.ids></links><search><creatorcontrib>O'Hoy, Kim L.</creatorcontrib><creatorcontrib>Tsilfidis, Catherine</creatorcontrib><creatorcontrib>Mahadevan, Mani S.</creatorcontrib><creatorcontrib>Neville, Catherine E.</creatorcontrib><creatorcontrib>Barceló, Juana</creatorcontrib><creatorcontrib>Alasdair G. 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Haplotype data of six polymorphic markers in the DM gene region indicate that, in this latter case, two stretches of the affected chromosome had been exchanged with that region of the wild-type chromosome.</description><subject>Alleles</subject><subject>Chromosomes</subject><subject>Gene conversion</subject><subject>Genes</subject><subject>Genetic loci</subject><subject>Genomics</subject><subject>Haplotypes</subject><subject>Medical genetics</subject><subject>Myotonic dystrophy</subject><subject>Polymerase chain reaction</subject><issn>0036-8075</issn><issn>1095-9203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid/><recordid>eNqFzL0OgjAYheHGaCL-3IHDdwMkn1S0zKJxcUF20kCREmhJW4Z69XZwdzrJ-yRnQaIjZmmcJUiXJEKk55jhJV2TjbU9YrCMRqQsRDPXTmoFUsFLfgToFlwn4Om100rWkHvrjJ46D6WRaq4HoZ1sBBRiEtxBPof6DsaVHaW14WpHVi0frNj_dksO91t5fcS9ddpUk5EjN75KGEN2QvqHvxyBPYE</recordid><startdate>19930205</startdate><enddate>19930205</enddate><creator>O'Hoy, Kim L.</creator><creator>Tsilfidis, Catherine</creator><creator>Mahadevan, Mani S.</creator><creator>Neville, Catherine E.</creator><creator>Barceló, Juana</creator><creator>Alasdair G. 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Amplification of an unstable trinucleotide CTG repeat, located within the 3′ untranslated region of a gene, correlates with a more severe DM phenotype. In three cases, the number of CTG repeats was reduced during the transmission of the DM allele; in one of these cases, the number was reduced to within the normal range and correlated at least with a delay in the onset of clinical signs of DM. Haplotype data of six polymorphic markers in the DM gene region indicate that, in this latter case, two stretches of the affected chromosome had been exchanged with that region of the wild-type chromosome.</abstract><pub>American Society for the Advancement of Science</pub></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0036-8075 |
| ispartof | Science (American Association for the Advancement of Science), 1993-02, Vol.259 (5096), p.809-812 |
| issn | 0036-8075 1095-9203 |
| language | eng |
| recordid | cdi_jstor_primary_2880840 |
| source | American Association for the Advancement of Science; JSTOR |
| subjects | Alleles Chromosomes Gene conversion Genes Genetic loci Genomics Haplotypes Medical genetics Myotonic dystrophy Polymerase chain reaction |
| title | Reduction in Size of the Myotonic Dystrophy Trinucleotide Repeat During Transmission |
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