Detection of the CTG repeat expansion in congenital myotonic dystrophy
Summary Myotonic dystrophy (DM) is caused by an abnormal expansion of an unstable CTG trinucleotide repeat in the 3′ untranslated region of mRNA encoding a putative serine/threonine protein kinase. We analyzed 59 patients with DM (28 congenital DM families: 27 families with maternal transmission and...
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| Veröffentlicht in: | Japanese Journal of Human Genetics 1997-03, Vol.42 (1), p.169-180 |
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| container_title | Japanese Journal of Human Genetics |
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| creator | Ohya, Kazuhiro Tachi, Nobutada Sato, Toshiya Kon, Shinichiro Kikuchi, Kokichi Chiba, Shunzo |
| description | Summary
Myotonic dystrophy (DM) is caused by an abnormal expansion of an unstable CTG trinucleotide repeat in the 3′ untranslated region of mRNA encoding a putative serine/threonine protein kinase. We analyzed 59 patients with DM (28 congenital DM families: 27 families with maternal transmission and 1 paternal transmission) and 27 normal control subjects to evaluate their CTG repeat size between DM patients and the normal controls, and to search for a correlation between the clinical characteristics of congenital DM (CDM) and CTG repeat expansions. Analysis was on the basis of the Southern blot and polymerase chain reaction (PCR) methods, and by direct sequencing of PCR amplified CTG repeats. Analysis of intergenerational differences in the CTG repeat size for mother-child pairs showed a positive correlation (
y
=1.0384
x
+1265.2,
r
2
=0.311). In addition to the strong parental bias, this group showed genetic anticipation. There was a significant correlation of the CTG repeat expansion with disease severity. The largest CTG repeat expansion (2,293 CTG repeats) on average belonged to the severe CDM group, and the smallest (129 CTG repeats) to the subclinical DM group. The mutant allele of an asymptomatic father in the paternally transmitted pedigree revealed 75 CTG repeats, demonstrating that he was a DM protomutation carrier. |
| doi_str_mv | 10.1007/BF02766919 |
| format | Article |
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Myotonic dystrophy (DM) is caused by an abnormal expansion of an unstable CTG trinucleotide repeat in the 3′ untranslated region of mRNA encoding a putative serine/threonine protein kinase. We analyzed 59 patients with DM (28 congenital DM families: 27 families with maternal transmission and 1 paternal transmission) and 27 normal control subjects to evaluate their CTG repeat size between DM patients and the normal controls, and to search for a correlation between the clinical characteristics of congenital DM (CDM) and CTG repeat expansions. Analysis was on the basis of the Southern blot and polymerase chain reaction (PCR) methods, and by direct sequencing of PCR amplified CTG repeats. Analysis of intergenerational differences in the CTG repeat size for mother-child pairs showed a positive correlation (
y
=1.0384
x
+1265.2,
r
2
=0.311). In addition to the strong parental bias, this group showed genetic anticipation. There was a significant correlation of the CTG repeat expansion with disease severity. The largest CTG repeat expansion (2,293 CTG repeats) on average belonged to the severe CDM group, and the smallest (129 CTG repeats) to the subclinical DM group. The mutant allele of an asymptomatic father in the paternally transmitted pedigree revealed 75 CTG repeats, demonstrating that he was a DM protomutation carrier.</description><identifier>ISSN: 0021-5074</identifier><identifier>ISSN: 0916-8478</identifier><identifier>ISSN: 1434-5161</identifier><identifier>EISSN: 1435-232X</identifier><identifier>DOI: 10.1007/BF02766919</identifier><identifier>PMID: 9183996</identifier><language>eng</language><publisher>Tokyo: Springer-Verlag</publisher><subject>3' Untranslated regions ; Biomedical and Life Sciences ; Biomedicine ; Blotting, Southern ; Child ; Child, Preschool ; DNA - chemistry ; Family Health ; Female ; Gene Expression ; Gene Function ; Gene Therapy ; Human Genetics ; Humans ; Infant ; Infant, Newborn ; Infectious Disease Transmission, Vertical ; Kinases ; Male ; Molecular Medicine ; mRNA ; Myotonic dystrophy ; Myotonic Dystrophy - congenital ; Myotonic Dystrophy - genetics ; Original Articles ; original-article ; Pedigree ; Polymerase Chain Reaction ; Protein-serine/threonine kinase ; Trinucleotide Repeats - genetics</subject><ispartof>Japanese Journal of Human Genetics, 1997-03, Vol.42 (1), p.169-180</ispartof><rights>Business Center for Academic Societies 1997</rights><rights>Business Center for Academic Societies 1997.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c407t-4bb297c7d076e91232935f2806d2a59759159c6a2089ed6762a03ddc1d0e76973</citedby><cites>FETCH-LOGICAL-c407t-4bb297c7d076e91232935f2806d2a59759159c6a2089ed6762a03ddc1d0e76973</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/BF02766919$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/BF02766919$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9183996$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ohya, Kazuhiro</creatorcontrib><creatorcontrib>Tachi, Nobutada</creatorcontrib><creatorcontrib>Sato, Toshiya</creatorcontrib><creatorcontrib>Kon, Shinichiro</creatorcontrib><creatorcontrib>Kikuchi, Kokichi</creatorcontrib><creatorcontrib>Chiba, Shunzo</creatorcontrib><title>Detection of the CTG repeat expansion in congenital myotonic dystrophy</title><title>Japanese Journal of Human Genetics</title><addtitle>Jap J Human Genet</addtitle><addtitle>Jpn J Hum Genet</addtitle><description>Summary
Myotonic dystrophy (DM) is caused by an abnormal expansion of an unstable CTG trinucleotide repeat in the 3′ untranslated region of mRNA encoding a putative serine/threonine protein kinase. We analyzed 59 patients with DM (28 congenital DM families: 27 families with maternal transmission and 1 paternal transmission) and 27 normal control subjects to evaluate their CTG repeat size between DM patients and the normal controls, and to search for a correlation between the clinical characteristics of congenital DM (CDM) and CTG repeat expansions. Analysis was on the basis of the Southern blot and polymerase chain reaction (PCR) methods, and by direct sequencing of PCR amplified CTG repeats. Analysis of intergenerational differences in the CTG repeat size for mother-child pairs showed a positive correlation (
y
=1.0384
x
+1265.2,
r
2
=0.311). In addition to the strong parental bias, this group showed genetic anticipation. There was a significant correlation of the CTG repeat expansion with disease severity. The largest CTG repeat expansion (2,293 CTG repeats) on average belonged to the severe CDM group, and the smallest (129 CTG repeats) to the subclinical DM group. The mutant allele of an asymptomatic father in the paternally transmitted pedigree revealed 75 CTG repeats, demonstrating that he was a DM protomutation carrier.</description><subject>3' Untranslated regions</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Blotting, Southern</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>DNA - chemistry</subject><subject>Family Health</subject><subject>Female</subject><subject>Gene Expression</subject><subject>Gene Function</subject><subject>Gene Therapy</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Infectious Disease Transmission, Vertical</subject><subject>Kinases</subject><subject>Male</subject><subject>Molecular Medicine</subject><subject>mRNA</subject><subject>Myotonic dystrophy</subject><subject>Myotonic Dystrophy - congenital</subject><subject>Myotonic Dystrophy - genetics</subject><subject>Original Articles</subject><subject>original-article</subject><subject>Pedigree</subject><subject>Polymerase Chain Reaction</subject><subject>Protein-serine/threonine kinase</subject><subject>Trinucleotide Repeats - genetics</subject><issn>0021-5074</issn><issn>0916-8478</issn><issn>1434-5161</issn><issn>1435-232X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkEFLwzAYhoMoc04v3oWC4EGpfknapDnqdCoMvEzwVrI0dR1tU5MU7L83Y8OBePoO78P7vTwInWO4xQD87mEGhDMmsDhAY5zQNCaUfByiMQDBcQo8OUYnzq0BgBJORmgkcEaFYGM0e9ReK1-ZNjJl5Fc6mi6eI6s7LX2kvzvZuk1WtZEy7aduKy_rqBmMN22lomJw3ppuNZyio1LWTp_t7gS9z54W05d4_vb8Or2fxyoB7uNkuSSCK14AZ1rgsFLQtCQZsILIVPBU4FQoJglkQheMMyKBFoXCBWjOBKcTdLXt7az56rXzeVM5petattr0LucCAsbSAF7-Ademt23YlhOeMUrTLIFAXW8pZY1zVpd5Z6tG2iHHkG_U5nu1Ab7YVfbLRhe_6M5lyG-2uQtJcGX3L_9p-wEPDH7m</recordid><startdate>19970301</startdate><enddate>19970301</enddate><creator>Ohya, Kazuhiro</creator><creator>Tachi, Nobutada</creator><creator>Sato, Toshiya</creator><creator>Kon, Shinichiro</creator><creator>Kikuchi, Kokichi</creator><creator>Chiba, Shunzo</creator><general>Springer-Verlag</general><general>Nature Publishing Group</general><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>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>19970301</creationdate><title>Detection of the CTG repeat expansion in congenital myotonic dystrophy</title><author>Ohya, Kazuhiro ; Tachi, Nobutada ; Sato, Toshiya ; Kon, Shinichiro ; Kikuchi, Kokichi ; Chiba, Shunzo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c407t-4bb297c7d076e91232935f2806d2a59759159c6a2089ed6762a03ddc1d0e76973</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>3' Untranslated regions</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Blotting, Southern</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>DNA - chemistry</topic><topic>Family Health</topic><topic>Female</topic><topic>Gene Expression</topic><topic>Gene Function</topic><topic>Gene Therapy</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Infectious Disease Transmission, Vertical</topic><topic>Kinases</topic><topic>Male</topic><topic>Molecular Medicine</topic><topic>mRNA</topic><topic>Myotonic dystrophy</topic><topic>Myotonic Dystrophy - congenital</topic><topic>Myotonic Dystrophy - genetics</topic><topic>Original Articles</topic><topic>original-article</topic><topic>Pedigree</topic><topic>Polymerase Chain Reaction</topic><topic>Protein-serine/threonine kinase</topic><topic>Trinucleotide Repeats - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ohya, Kazuhiro</creatorcontrib><creatorcontrib>Tachi, Nobutada</creatorcontrib><creatorcontrib>Sato, Toshiya</creatorcontrib><creatorcontrib>Kon, Shinichiro</creatorcontrib><creatorcontrib>Kikuchi, Kokichi</creatorcontrib><creatorcontrib>Chiba, Shunzo</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>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Japanese Journal of Human Genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ohya, Kazuhiro</au><au>Tachi, Nobutada</au><au>Sato, Toshiya</au><au>Kon, Shinichiro</au><au>Kikuchi, Kokichi</au><au>Chiba, Shunzo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Detection of the CTG repeat expansion in congenital myotonic dystrophy</atitle><jtitle>Japanese Journal of Human Genetics</jtitle><stitle>Jap J Human Genet</stitle><addtitle>Jpn J Hum Genet</addtitle><date>1997-03-01</date><risdate>1997</risdate><volume>42</volume><issue>1</issue><spage>169</spage><epage>180</epage><pages>169-180</pages><issn>0021-5074</issn><issn>0916-8478</issn><issn>1434-5161</issn><eissn>1435-232X</eissn><abstract>Summary
Myotonic dystrophy (DM) is caused by an abnormal expansion of an unstable CTG trinucleotide repeat in the 3′ untranslated region of mRNA encoding a putative serine/threonine protein kinase. We analyzed 59 patients with DM (28 congenital DM families: 27 families with maternal transmission and 1 paternal transmission) and 27 normal control subjects to evaluate their CTG repeat size between DM patients and the normal controls, and to search for a correlation between the clinical characteristics of congenital DM (CDM) and CTG repeat expansions. Analysis was on the basis of the Southern blot and polymerase chain reaction (PCR) methods, and by direct sequencing of PCR amplified CTG repeats. Analysis of intergenerational differences in the CTG repeat size for mother-child pairs showed a positive correlation (
y
=1.0384
x
+1265.2,
r
2
=0.311). In addition to the strong parental bias, this group showed genetic anticipation. There was a significant correlation of the CTG repeat expansion with disease severity. The largest CTG repeat expansion (2,293 CTG repeats) on average belonged to the severe CDM group, and the smallest (129 CTG repeats) to the subclinical DM group. The mutant allele of an asymptomatic father in the paternally transmitted pedigree revealed 75 CTG repeats, demonstrating that he was a DM protomutation carrier.</abstract><cop>Tokyo</cop><pub>Springer-Verlag</pub><pmid>9183996</pmid><doi>10.1007/BF02766919</doi><tpages>12</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | 3' Untranslated regions Biomedical and Life Sciences Biomedicine Blotting, Southern Child Child, Preschool DNA - chemistry Family Health Female Gene Expression Gene Function Gene Therapy Human Genetics Humans Infant Infant, Newborn Infectious Disease Transmission, Vertical Kinases Male Molecular Medicine mRNA Myotonic dystrophy Myotonic Dystrophy - congenital Myotonic Dystrophy - genetics Original Articles original-article Pedigree Polymerase Chain Reaction Protein-serine/threonine kinase Trinucleotide Repeats - genetics |
| title | Detection of the CTG repeat expansion in congenital myotonic dystrophy |
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