{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T19:31:49Z","timestamp":1777750309602,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2009,2,18]],"date-time":"2009-02-18T00:00:00Z","timestamp":1234915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2009,2,18]],"date-time":"2009-02-18T00:00:00Z","timestamp":1234915200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"abstract":"<jats:p>We have recently identified that at least four types of mutation are responsible for the glucose-6-phosphate dehydrogenase (G6PD) polymorphism in the Chinese of Taiwan. Two mutations (487 G\u2192A and 493 A\u2192G) occurring at nucleotide position 487 and 493, respectively, create Alu I and Ava II recognition sites which enabled us to directly examine these two mutations by PCR\/restriction enzyme (RE) digestion. However, the other two mutations (1376 G\u2192T and 1388 G\u2192A), which do not generate any recognizable restriction sites, were detected by DNA sequencing method which is not suitable for rapid diagnosis. Using the PCR technique, we have successfully developed a simple and rapid method for the detection of 1376 and 1388 mutations. This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers, followed by hybridization with allele-specific oligonucleotide (ASO) probes. Using the PCR\/ASO and PCR\/RE methods, we have successfully examined two families and 20 unrelated subjects with G6PD deficiency. Our results indicate that the PCR\/ASO method is suitable for the rapid determination of 1376 and 1388 mutations. The combined use of PCR\/ ASO and PCR\/RE methods will be suitable for rapid diagnosis of four known G6PD mutations in Chinese.<\/jats:p>","DOI":"10.1159\/000204659","type":"journal-article","created":{"date-parts":[[2009,2,20]],"date-time":"2009-02-20T14:45:47Z","timestamp":1235141147000},"page":"92-95","source":"Crossref","is-referenced-by-count":1,"title":["Diagnosis of Glucose-6-Phosphate Dehydrogenase (G6PD) Mutations by DNA Amplification and Allele-Specific Oligonucleotide Probes"],"prefix":"10.1159","author":[{"given":"Ching-Shan","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chieh-Ju C.","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"May-Jen","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tang K.","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,2,18]]},"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/204659","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000204659","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T11:54:41Z","timestamp":1777463681000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000204659"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2,18]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000204659","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"value":"0001-5792","type":"print"},{"value":"1421-9662","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,2,18]]}}}