Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy
Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allele-specific PCR for diagnostic...
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| Veröffentlicht in: | Indian journal of medical research (New Delhi, India : 1994) India : 1994), 2012, Vol.135 (1), p.31-35 |
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| container_title | Indian journal of medical research (New Delhi, India : 1994) |
| container_volume | 135 |
| creator | Marini, M Sasongko, T H Watihayati, M S Atif, A B Hayati, F Zabidi-Hussin, Z A M H Ravichandran, M Nishio, H Zilfalil, B A |
| description | Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allele-specific PCR for diagnostic screening of SMA is reliable in the presence of high amount of genomic DNA, which is commonly used when performing diagnostic screening using restriction enzymes.
A total of 126 blood DNA samples were tested in amounts ranging 80-200 ng, referred for the genetic diagnosis of SMA using both conventional PCR-RFLP and allele-specific PCR.
The results from both methods showed agreement. Further, allele-specific PCR was found to be a time-efficient and cost-effective method.
Our study demonstrated the accuracy of our allele-specific PCR and the results were comparable compatible with that of PCR-RFLP, indicating its practical application in SMA diagnostic screening. |
| doi_str_mv | 10.4103/0971-5916.93421 |
| format | Article |
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A total of 126 blood DNA samples were tested in amounts ranging 80-200 ng, referred for the genetic diagnosis of SMA using both conventional PCR-RFLP and allele-specific PCR.
The results from both methods showed agreement. Further, allele-specific PCR was found to be a time-efficient and cost-effective method.
Our study demonstrated the accuracy of our allele-specific PCR and the results were comparable compatible with that of PCR-RFLP, indicating its practical application in SMA diagnostic screening.</description><identifier>ISSN: 0971-5916</identifier><identifier>DOI: 10.4103/0971-5916.93421</identifier><identifier>PMID: 22382180</identifier><language>eng</language><publisher>India: Medknow Publications and Media Pvt. Ltd</publisher><subject>Adolescent ; Alleles ; Allelomorphism ; Child ; Cost analysis ; Deoxyribonucleic acid ; Diagnosis ; DNA ; Efficiency ; Enzymes ; Exons ; Female ; Genes ; Genetic aspects ; Health aspects ; Health Care Costs ; Humans ; Male ; Methods ; Muscular Atrophy, Spinal - diagnosis ; Muscular Atrophy, Spinal - pathology ; Neuromuscular diseases ; Original ; Physiological aspects ; Polymerase chain reaction ; Polymerase Chain Reaction - methods ; Sequence Deletion ; Spinal muscular atrophy ; Survival of Motor Neuron 1 Protein - blood ; Survival of Motor Neuron 1 Protein - genetics ; Survival of Motor Neuron 2 Protein - blood ; Survival of Motor Neuron 2 Protein - genetics</subject><ispartof>Indian journal of medical research (New Delhi, India : 1994), 2012, Vol.135 (1), p.31-35</ispartof><rights>COPYRIGHT 2012 Medknow Publications and Media Pvt. Ltd.</rights><rights>2012. This work is published under https://creativecommons.org/licenses/by-nc-sa/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Copyright: © The Indian Journal of Medical Research 2012</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c553t-d11515081fc4383cf8c2284b40f81432bfd99c3ad8cfd1268ed0daf0c67078773</citedby><cites>FETCH-LOGICAL-c553t-d11515081fc4383cf8c2284b40f81432bfd99c3ad8cfd1268ed0daf0c67078773</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3307181/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3307181/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,725,778,782,883,4012,27910,27911,27912,53778,53780</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22382180$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Marini, M</creatorcontrib><creatorcontrib>Sasongko, T H</creatorcontrib><creatorcontrib>Watihayati, M S</creatorcontrib><creatorcontrib>Atif, A B</creatorcontrib><creatorcontrib>Hayati, F</creatorcontrib><creatorcontrib>Zabidi-Hussin, Z A M H</creatorcontrib><creatorcontrib>Ravichandran, M</creatorcontrib><creatorcontrib>Nishio, H</creatorcontrib><creatorcontrib>Zilfalil, B A</creatorcontrib><creatorcontrib>Gunadi</creatorcontrib><title>Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy</title><title>Indian journal of medical research (New Delhi, India : 1994)</title><addtitle>Indian J Med Res</addtitle><description>Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allele-specific PCR for diagnostic screening of SMA is reliable in the presence of high amount of genomic DNA, which is commonly used when performing diagnostic screening using restriction enzymes.
A total of 126 blood DNA samples were tested in amounts ranging 80-200 ng, referred for the genetic diagnosis of SMA using both conventional PCR-RFLP and allele-specific PCR.
The results from both methods showed agreement. Further, allele-specific PCR was found to be a time-efficient and cost-effective method.
Our study demonstrated the accuracy of our allele-specific PCR and the results were comparable compatible with that of PCR-RFLP, indicating its practical application in SMA diagnostic screening.</description><subject>Adolescent</subject><subject>Alleles</subject><subject>Allelomorphism</subject><subject>Child</subject><subject>Cost analysis</subject><subject>Deoxyribonucleic acid</subject><subject>Diagnosis</subject><subject>DNA</subject><subject>Efficiency</subject><subject>Enzymes</subject><subject>Exons</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Health aspects</subject><subject>Health Care Costs</subject><subject>Humans</subject><subject>Male</subject><subject>Methods</subject><subject>Muscular Atrophy, Spinal - diagnosis</subject><subject>Muscular Atrophy, Spinal - pathology</subject><subject>Neuromuscular diseases</subject><subject>Original</subject><subject>Physiological aspects</subject><subject>Polymerase chain reaction</subject><subject>Polymerase Chain Reaction - methods</subject><subject>Sequence Deletion</subject><subject>Spinal muscular atrophy</subject><subject>Survival of Motor Neuron 1 Protein - blood</subject><subject>Survival of Motor Neuron 1 Protein - genetics</subject><subject>Survival of Motor Neuron 2 Protein - blood</subject><subject>Survival of Motor Neuron 2 Protein - genetics</subject><issn>0971-5916</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNptUU1r3DAQ1aGlSbc991YEhd680Ye9li-FZelHINBS2rPQjkabCbblSnYg_77aJt00UOYw8Oa9xzweY2-kWNdS6AvRtbJqOrlZd7pW8hk7PyFn7GXON0LITrXdC3amlDZKGnHOaNv32GOVJwQKBPzb7jsPMXHHIea5whAQZrpF_p7PNOARICAcZ-7JHcbCKaIMCXGk8cBj4Hmi0fV8WDIsvStOc4rT9d0r9jy4PuPrh71iPz99_LH7Ul19_Xy5215V0DR6rryUjWyEkQFqbTQEA0qZel-LYGSt1T74rgPtvIHgpdoY9MK7IGDTita0rV6xD_e-07If0EN5NbneTokGl-5sdGSfXka6tod4a7UWrTSyGLx7MEjx14J5tjdxSSVStko1RjWdEOqRdXA9WhpDLGYwUAa7VUYJ3eiSZ8XW_2GV8TgQxBEDFfyJ4OJeACnmnDCcHpfCHmu2x1LtsVT7p-aiePtv3hP_b8f6N765pBw</recordid><startdate>2012</startdate><enddate>2012</enddate><creator>Marini, M</creator><creator>Sasongko, T H</creator><creator>Watihayati, M S</creator><creator>Atif, A B</creator><creator>Hayati, F</creator><creator>Zabidi-Hussin, Z A M H</creator><creator>Ravichandran, M</creator><creator>Nishio, H</creator><creator>Zilfalil, B A</creator><general>Medknow Publications and Media Pvt. Ltd</general><general>Scientific Scholar</general><general>Medknow Publications & Media Pvt Ltd</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M2P</scope><scope>MBDVC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>S0X</scope><scope>5PM</scope></search><sort><creationdate>2012</creationdate><title>Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy</title><author>Marini, M ; Sasongko, T H ; Watihayati, M S ; Atif, A B ; Hayati, F ; Zabidi-Hussin, Z A M H ; Ravichandran, M ; Nishio, H ; Zilfalil, B A</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c553t-d11515081fc4383cf8c2284b40f81432bfd99c3ad8cfd1268ed0daf0c67078773</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adolescent</topic><topic>Alleles</topic><topic>Allelomorphism</topic><topic>Child</topic><topic>Cost analysis</topic><topic>Deoxyribonucleic acid</topic><topic>Diagnosis</topic><topic>DNA</topic><topic>Efficiency</topic><topic>Enzymes</topic><topic>Exons</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Health aspects</topic><topic>Health Care Costs</topic><topic>Humans</topic><topic>Male</topic><topic>Methods</topic><topic>Muscular Atrophy, Spinal - diagnosis</topic><topic>Muscular Atrophy, Spinal - pathology</topic><topic>Neuromuscular diseases</topic><topic>Original</topic><topic>Physiological aspects</topic><topic>Polymerase chain reaction</topic><topic>Polymerase Chain Reaction - methods</topic><topic>Sequence Deletion</topic><topic>Spinal muscular atrophy</topic><topic>Survival of Motor Neuron 1 Protein - blood</topic><topic>Survival of Motor Neuron 1 Protein - genetics</topic><topic>Survival of Motor Neuron 2 Protein - blood</topic><topic>Survival of Motor Neuron 2 Protein - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Marini, M</creatorcontrib><creatorcontrib>Sasongko, T H</creatorcontrib><creatorcontrib>Watihayati, M S</creatorcontrib><creatorcontrib>Atif, A B</creatorcontrib><creatorcontrib>Hayati, F</creatorcontrib><creatorcontrib>Zabidi-Hussin, Z A M H</creatorcontrib><creatorcontrib>Ravichandran, M</creatorcontrib><creatorcontrib>Nishio, H</creatorcontrib><creatorcontrib>Zilfalil, B A</creatorcontrib><creatorcontrib>Gunadi</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Science Database</collection><collection>Research Library (Corporate)</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>SIRS Editorial</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Indian journal of medical research (New Delhi, India : 1994)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Marini, M</au><au>Sasongko, T H</au><au>Watihayati, M S</au><au>Atif, A B</au><au>Hayati, F</au><au>Zabidi-Hussin, Z A M H</au><au>Ravichandran, M</au><au>Nishio, H</au><au>Zilfalil, B A</au><aucorp>Gunadi</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy</atitle><jtitle>Indian journal of medical research (New Delhi, India : 1994)</jtitle><addtitle>Indian J Med Res</addtitle><date>2012</date><risdate>2012</risdate><volume>135</volume><issue>1</issue><spage>31</spage><epage>35</epage><pages>31-35</pages><issn>0971-5916</issn><abstract>Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of SMN2 gene as majority of SMA patients show absence or deletion of SMN1 gene. PCR may amplify both the genes non selectively in presence of high amount of DNA. We evaluated whether allele-specific PCR for diagnostic screening of SMA is reliable in the presence of high amount of genomic DNA, which is commonly used when performing diagnostic screening using restriction enzymes.
A total of 126 blood DNA samples were tested in amounts ranging 80-200 ng, referred for the genetic diagnosis of SMA using both conventional PCR-RFLP and allele-specific PCR.
The results from both methods showed agreement. Further, allele-specific PCR was found to be a time-efficient and cost-effective method.
Our study demonstrated the accuracy of our allele-specific PCR and the results were comparable compatible with that of PCR-RFLP, indicating its practical application in SMA diagnostic screening.</abstract><cop>India</cop><pub>Medknow Publications and Media Pvt. Ltd</pub><pmid>22382180</pmid><doi>10.4103/0971-5916.93421</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Indian journal of medical research (New Delhi, India : 1994), 2012, Vol.135 (1), p.31-35 |
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| subjects | Adolescent Alleles Allelomorphism Child Cost analysis Deoxyribonucleic acid Diagnosis DNA Efficiency Enzymes Exons Female Genes Genetic aspects Health aspects Health Care Costs Humans Male Methods Muscular Atrophy, Spinal - diagnosis Muscular Atrophy, Spinal - pathology Neuromuscular diseases Original Physiological aspects Polymerase chain reaction Polymerase Chain Reaction - methods Sequence Deletion Spinal muscular atrophy Survival of Motor Neuron 1 Protein - blood Survival of Motor Neuron 1 Protein - genetics Survival of Motor Neuron 2 Protein - blood Survival of Motor Neuron 2 Protein - genetics |
| title | Allele-specific PCR for a cost-effective & time-efficient diagnostic screening of spinal muscular atrophy |
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