{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T23:56:18Z","timestamp":1772754978376,"version":"3.50.1"},"reference-count":13,"publisher":"Scientific Scholar","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:sec>\n            <jats:title>Background &amp; objectives:<\/jats:title>\n            <jats:p>Genetic diagnosis of spinal muscular atrophy (SMA) is complicated by the presence of <jats:italic toggle=\"yes\">SMN2<\/jats:italic> gene as majority of SMA patients show absence or deletion of <jats:italic toggle=\"yes\">SMN1<\/jats:italic> 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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results:<\/jats:title>\n            <jats:p>The results from both methods showed agreement. Further, allele-specific PCR was found to be a time-efficient and cost-effective method.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Interpretation &amp; conclusions:<\/jats:title>\n            <jats:p>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.<\/jats:p>\n          <\/jats:sec>","DOI":"10.4103\/0971-5916.93421","type":"journal-article","created":{"date-parts":[[2012,3,5]],"date-time":"2012-03-05T21:54:59Z","timestamp":1330984499000},"page":"31-35","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":7,"title":["Allele-specific PCR for a cost-effective &amp; time-efficient diagnostic screening of spinal muscular atrophy"],"prefix":"10.25259","volume":"135","author":[{"given":"M.","family":"Marini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.H.","family":"Sasongko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.S.","family":"Watihayati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.B.","family":"Atif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Hayati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"family":"Gunadi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.A.M.H.","family":"Zabidi-Hussin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Ravichandran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Nishio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.A.","family":"Zilfalil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"10894","reference":[{"key":"R1-8-20241212","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1016\/S0140-6736(95)90732-7","article-title":"PCR-based 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The amplification refractory mutation system (ARMS)","volume":"17","author":"Newton","year":"1989","journal-title":"Nucleic Acid Res"},{"key":"R13-8-20241212","doi-asserted-by":"crossref","first-page":"15","DOI":"10.3109\/01677063.2011.559561","article-title":"SMN1 exon 7 deletion analysis may be necessary and sufficient for the diagnosis of spinal muscular atrophy","volume":"25","author":"Sasongko","year":"2011","journal-title":"J Neurogenet"}],"container-title":["Indian Journal of Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/02223309-201235010-00008","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T22:55:28Z","timestamp":1751496928000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijmr.org.in\/allele-specific-pcr-for-a-cost-effective-time-efficient-diagnostic-screening-of-spinal-muscular-atrophy\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012]]}},"URL":"https:\/\/doi.org\/10.4103\/0971-5916.93421","relation":{},"ISSN":["0971-5916"],"issn-type":[{"value":"0971-5916","type":"print"}],"subject":[],"published":{"date-parts":[[2012,1]]}}}