Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations
We have developed a rapid and sensitive method to screen the Duchenne muscular dystrophy (DMD) mRNA for translation terminating mutations by a combination of RT-PCR (Reverse Transcription and Polymerase Chain Reaction) and in vitro transcription/translation applied to white blood cell mRNA. This tec...
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| Veröffentlicht in: | Neuromuscular disorders : NMD 1993-01, Vol.3 (5), p.391-394 |
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| container_issue | 5 |
| container_start_page | 391 |
| container_title | Neuromuscular disorders : NMD |
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| creator | Roest, Pauline A.M. Roberts, Roland G. van der Tuijn, Astrid C. Heikoop, Judith C. van Ommen, Gert-Jan B. den Dunnen, Johan T. |
| description | We have developed a rapid and sensitive method to screen the Duchenne muscular dystrophy (DMD) mRNA for translation terminating mutations by a combination of RT-PCR (Reverse Transcription and Polymerase Chain Reaction) and
in vitro transcription/translation applied to white blood cell mRNA. This technique was termed the protein truncation test (PTT). Here we demonstrate the detection of a point mutation in a DMD patient and his mother, a carrier. The PTT can also be used for carrier detection when no patient material is available, or in the case of spontaneous mutations. We developed a protocol to screen the total coding region of the DMD gene in 5–10 PTT reactions. Furthermore, PTT could be of diagnostic value in any disease where premature terminations form a substantial part of the total mutation spectrum. |
| doi_str_mv | 10.1016/0960-8966(93)90083-V |
| format | Article |
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in vitro transcription/translation applied to white blood cell mRNA. This technique was termed the protein truncation test (PTT). Here we demonstrate the detection of a point mutation in a DMD patient and his mother, a carrier. The PTT can also be used for carrier detection when no patient material is available, or in the case of spontaneous mutations. We developed a protocol to screen the total coding region of the DMD gene in 5–10 PTT reactions. Furthermore, PTT could be of diagnostic value in any disease where premature terminations form a substantial part of the total mutation spectrum.</description><identifier>ISSN: 0960-8966</identifier><identifier>EISSN: 1873-2364</identifier><identifier>DOI: 10.1016/0960-8966(93)90083-V</identifier><identifier>PMID: 8186681</identifier><language>eng</language><publisher>England: Elsevier B.V</publisher><subject>Base Sequence ; carrier detection ; DNA Primers ; Duchenne muscular dystrophy ; Dystrophin - biosynthesis ; Dystrophin - genetics ; Genetic Techniques ; Humans ; Infant, Newborn ; Male ; Molecular Sequence Data ; Muscular Dystrophies - diagnosis ; Muscular Dystrophies - genetics ; Peptide Chain Termination, Translational ; Point Mutation ; Polymerase Chain Reaction - methods ; Protein Biosynthesis ; RNA, Messenger - analysis ; RNA, Messenger - metabolism ; Transcription, Genetic</subject><ispartof>Neuromuscular disorders : NMD, 1993-01, Vol.3 (5), p.391-394</ispartof><rights>1993</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c357t-dfcc4f69a928829658e9c703c278f24150f0ba6eeba1eda3d6c88262c987ad5e3</citedby><cites>FETCH-LOGICAL-c357t-dfcc4f69a928829658e9c703c278f24150f0ba6eeba1eda3d6c88262c987ad5e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/096089669390083V$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8186681$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Roest, Pauline A.M.</creatorcontrib><creatorcontrib>Roberts, Roland G.</creatorcontrib><creatorcontrib>van der Tuijn, Astrid C.</creatorcontrib><creatorcontrib>Heikoop, Judith C.</creatorcontrib><creatorcontrib>van Ommen, Gert-Jan B.</creatorcontrib><creatorcontrib>den Dunnen, Johan T.</creatorcontrib><title>Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations</title><title>Neuromuscular disorders : NMD</title><addtitle>Neuromuscul Disord</addtitle><description>We have developed a rapid and sensitive method to screen the Duchenne muscular dystrophy (DMD) mRNA for translation terminating mutations by a combination of RT-PCR (Reverse Transcription and Polymerase Chain Reaction) and
in vitro transcription/translation applied to white blood cell mRNA. This technique was termed the protein truncation test (PTT). Here we demonstrate the detection of a point mutation in a DMD patient and his mother, a carrier. The PTT can also be used for carrier detection when no patient material is available, or in the case of spontaneous mutations. We developed a protocol to screen the total coding region of the DMD gene in 5–10 PTT reactions. Furthermore, PTT could be of diagnostic value in any disease where premature terminations form a substantial part of the total mutation spectrum.</description><subject>Base Sequence</subject><subject>carrier detection</subject><subject>DNA Primers</subject><subject>Duchenne muscular dystrophy</subject><subject>Dystrophin - biosynthesis</subject><subject>Dystrophin - genetics</subject><subject>Genetic Techniques</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Molecular Sequence Data</subject><subject>Muscular Dystrophies - diagnosis</subject><subject>Muscular Dystrophies - genetics</subject><subject>Peptide Chain Termination, Translational</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Protein Biosynthesis</subject><subject>RNA, Messenger - analysis</subject><subject>RNA, Messenger - metabolism</subject><subject>Transcription, Genetic</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1993</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kElPwzAQhS0EgrL8A5B8QuUQsOPGywUJtWxSERwKV8txJmCUpdgOEv8elxaOnGY0770ZzYfQMSXnlFB-QRQnmVScjxU7U4RIlr1soRGVgmU545NtNPqz7KH9EN4JoYXgYhftSio5l3SEyiffR3Adjn7orImuTy2EiMdPi8UZjj32Zumq5gsH6wGS-AZ49jDDr9ABrnufgqYLzW_St65LffeK2yH-DMMh2qlNE-BoUw_Q8831YnqXzR9v76dX88yyQsSsqq2d1FwZlUuZK15IUFYQZnMh63xCC1KT0nCA0lCoDKu4TT6eWyWFqQpgB-h0vXfp-48h_aBbFyw0jemgH4IWPBecM5WMk7XR-j4ED7Veetca_6Up0Su0esVNr7hpxfQPWv2SYieb_UPZQvUX2rBM-uVah_TkpwOvg3XQWaicBxt11bv_D3wD2-6Jww</recordid><startdate>19930101</startdate><enddate>19930101</enddate><creator>Roest, Pauline A.M.</creator><creator>Roberts, Roland G.</creator><creator>van der Tuijn, Astrid C.</creator><creator>Heikoop, Judith C.</creator><creator>van Ommen, Gert-Jan B.</creator><creator>den Dunnen, Johan T.</creator><general>Elsevier B.V</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>7X8</scope></search><sort><creationdate>19930101</creationdate><title>Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations</title><author>Roest, Pauline A.M. ; Roberts, Roland G. ; van der Tuijn, Astrid C. ; Heikoop, Judith C. ; van Ommen, Gert-Jan B. ; den Dunnen, Johan T.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c357t-dfcc4f69a928829658e9c703c278f24150f0ba6eeba1eda3d6c88262c987ad5e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1993</creationdate><topic>Base Sequence</topic><topic>carrier detection</topic><topic>DNA Primers</topic><topic>Duchenne muscular dystrophy</topic><topic>Dystrophin - biosynthesis</topic><topic>Dystrophin - genetics</topic><topic>Genetic Techniques</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Molecular Sequence Data</topic><topic>Muscular Dystrophies - diagnosis</topic><topic>Muscular Dystrophies - genetics</topic><topic>Peptide Chain Termination, Translational</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Protein Biosynthesis</topic><topic>RNA, Messenger - analysis</topic><topic>RNA, Messenger - metabolism</topic><topic>Transcription, Genetic</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Roest, Pauline A.M.</creatorcontrib><creatorcontrib>Roberts, Roland G.</creatorcontrib><creatorcontrib>van der Tuijn, Astrid C.</creatorcontrib><creatorcontrib>Heikoop, Judith C.</creatorcontrib><creatorcontrib>van Ommen, Gert-Jan B.</creatorcontrib><creatorcontrib>den Dunnen, Johan T.</creatorcontrib><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><jtitle>Neuromuscular disorders : NMD</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Roest, Pauline A.M.</au><au>Roberts, Roland G.</au><au>van der Tuijn, Astrid C.</au><au>Heikoop, Judith C.</au><au>van Ommen, Gert-Jan B.</au><au>den Dunnen, Johan T.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations</atitle><jtitle>Neuromuscular disorders : NMD</jtitle><addtitle>Neuromuscul Disord</addtitle><date>1993-01-01</date><risdate>1993</risdate><volume>3</volume><issue>5</issue><spage>391</spage><epage>394</epage><pages>391-394</pages><issn>0960-8966</issn><eissn>1873-2364</eissn><abstract>We have developed a rapid and sensitive method to screen the Duchenne muscular dystrophy (DMD) mRNA for translation terminating mutations by a combination of RT-PCR (Reverse Transcription and Polymerase Chain Reaction) and
in vitro transcription/translation applied to white blood cell mRNA. This technique was termed the protein truncation test (PTT). Here we demonstrate the detection of a point mutation in a DMD patient and his mother, a carrier. The PTT can also be used for carrier detection when no patient material is available, or in the case of spontaneous mutations. We developed a protocol to screen the total coding region of the DMD gene in 5–10 PTT reactions. Furthermore, PTT could be of diagnostic value in any disease where premature terminations form a substantial part of the total mutation spectrum.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>8186681</pmid><doi>10.1016/0960-8966(93)90083-V</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
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| ispartof | Neuromuscular disorders : NMD, 1993-01, Vol.3 (5), p.391-394 |
| issn | 0960-8966 1873-2364 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Base Sequence carrier detection DNA Primers Duchenne muscular dystrophy Dystrophin - biosynthesis Dystrophin - genetics Genetic Techniques Humans Infant, Newborn Male Molecular Sequence Data Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Peptide Chain Termination, Translational Point Mutation Polymerase Chain Reaction - methods Protein Biosynthesis RNA, Messenger - analysis RNA, Messenger - metabolism Transcription, Genetic |
| title | Protein truncation test (PTT) to rapidly screen the DMD gene for translation terminating mutations |
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