{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,16]],"date-time":"2025-12-16T10:46:19Z","timestamp":1765881979079,"version":"3.48.0"},"reference-count":40,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2016,10,10]]},"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>The lack of epidemiological data and molecular diagnostic services in Malaysia has hampered the setting-up of a comprehensive management plan for patients with myotonic dystrophy type 1 (DM1), leading to delayed diagnosis, treatment and support for patients and families. The aim of this study was to estimate the prevalence of DM1 in the 3 major ethnic groups in Malaysia and evaluate the feasibility of a single tube triplet-primed PCR (TP-PCR) method for diagnosis of DM1 in Malaysia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design, setting and participants<\/jats:title>\n                    <jats:p>We used PCR to determine the size of CTG repeats in 377 individuals not known to be affected by DM and 11 DM1 suspected patients, recruited from a tertiary hospital in Kuala Lumpur. TP-PCR was performed on selected samples, followed by Southern blot hybridisation of PCR amplified fragments to confirm and estimate the size of CTG expansion.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Outcome measures<\/jats:title>\n                    <jats:p>\n                      The number of individuals not known to be affected by DM with (CTG)\n                      <jats:sub>&gt;18<\/jats:sub>\n                      was determined according to ethnic group and as a whole population. The \u03c7\n                      <jats:sup>2<\/jats:sup>\n                      test was performed to compare the distribution of (CTG)\n                      <jats:sub>&gt;18<\/jats:sub>\n                      with 12 other populations. Additionally, the accuracy of TP-PCR in detecting CTG expansion in 11 patients with DM1 was determined by comparing the results with that from Southern blot hybridisation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of the 754 chromosomes studied, (CTG)\n                      <jats:sub>&gt;18<\/jats:sub>\n                      frequency of 3.60%, 1.57% and 4.00% in the Malay, Chinese and Indian subpopulations, respectively, was detected, showing similarities to data from Thai, Taiwanese and Kuwaiti populations. We also successfully detected CTG expansions in 9 patients using the TP-PCR method followed by the estimation of CTG expansion size via Southern blot hybridisation.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The results show a low DM1 prevalence in Malaysia with the possibility of underdiagnosis and demonstrates the feasibility of using a clinical and TP-PCR-based approach for rapid and cost-effective DM1 diagnosis in developing countries.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2015-010711","type":"journal-article","created":{"date-parts":[[2017,3,31]],"date-time":"2017-03-31T20:10:15Z","timestamp":1490991015000},"page":"e010711","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":10,"title":["Analysis of CTG repeat length variation in the\n                    <i>DMPK<\/i>\n                    gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia"],"prefix":"10.1136","volume":"7","author":[{"given":"Kathlin K","family":"Ambrose","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taufik","family":"Ishak","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lay-Hoong","family":"Lian","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khean-Jin","family":"Goh","sequence":"additional","affiliation":[{"name":"Department of Medicine, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kum-Thong","family":"Wong","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azlina","family":"Ahmad-Annuar","sequence":"additional","affiliation":[{"name":"Department of Biomedical Science, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meow-Keong","family":"Thong","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2017,3,31]]},"reference":[{"key":"2025121602435182000_7.3.e010711.1","unstructured":"Harper PS . 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