{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T15:18:04Z","timestamp":1781623084995,"version":"3.54.5"},"reference-count":18,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2005,12,5]],"date-time":"2005-12-05T00:00:00Z","timestamp":1133740800000},"content-version":"vor","delay-in-days":4052,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1994,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>\u03b2\u2010Thalassaemia major patients have chronic anaemia and since 3\u20134 per cent of Singaporeans carry the \u03b2\u2010gene, prenatal diagnosis is essential. We evaluated the amplification refractory mutation system (ARMS) technique as a routine test for prenatal diagnosis of \u03b2\u2010major. Six mutations along the \u03b2\u2010gene were studied\u201441\u201342 (\u2010TCTT), IVSII #654 (C\u2010T), 17\u03b2 (A\u2010T), \u2013 28 TATA (A\u2010G), IVSI #5 (G\u2010C), and IVSI #1 (G\u2010T). Our results indicate that prenatal diagnosis using these mutations can be offered to 90 per cent (35\/39) of our Chinese couples and 54\u00b76 per cent (12\/22) of our Malay couples at risk. Confirmation of ARMS results was carried out using allele\u2010specific oligonucleotide hybridization. Prenatal diagnosis using ARMS was successfully carried out in nine cases which included a set of triplets and twins. The triplets were diagnosed with the \u03b2\u2010trait carrying the 41\u201342 mutation. The couple with twins possessed the #654 mutation and one twin was diagnosed with the \u03b2\u2010trait and the other with #654 homozygosity. Genomic sequencing of the undefined mutations in the Chinese couples revealed rarer mutations at \u2212 29 and an ATG\u2010AGG base substitution at the initiation codon for translation. In the Malay couples, genomic sequencing detected mutations at codon 15 (TGG\u2010TAG) and codon 26 (GAG\u2010AAG). We conclude that ARMS with its direct detection of amplified products by gel electrophoresis provides an accurate, rapid, and simpler method for our \u03b2\u2010thalassaemia prenatal diagnosis programme in Singapore.<\/jats:p>","DOI":"10.1002\/pd.1970141112","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T07:05:42Z","timestamp":1172991942000},"page":"1077-1082","source":"Crossref","is-referenced-by-count":30,"title":["The amplification refractory mutation system (ARMS): A rapid and direct prenatal diagnostic technique for \u03b2\u2010thalassaemia in Singapore"],"prefix":"10.1002","volume":"14","author":[{"given":"J. A. M. 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B.","family":"Wong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,12,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1980.tb33658.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/S0140-6736(78)91629-X","article-title":"Antenatal diagnosis of sickle cell anaemia by DNA analysis of amniotic fluid cells","author":"Kan Y. W.","year":"1978","journal-title":"Lancet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(77)91821-9"},{"key":"e_1_2_1_5_1","first-page":"209","article-title":"The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990","volume":"27","author":"Kazazian H. H.","year":"1990","journal-title":"Semin. 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