{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T19:57:08Z","timestamp":1789675028075,"version":"4.0.1"},"reference-count":16,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,11,10]],"date-time":"2021-11-10T00:00:00Z","timestamp":1636502400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000646","name":"Japan Society for the Promotion of Science London","doi-asserted-by":"publisher","award":["18K15390"],"award-info":[{"award-number":["18K15390"]}],"id":[{"id":"10.13039\/501100000646","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p><jats:italic>GATA1<\/jats:italic> mutation plays an important role in initiating transient abnormal myelopoiesis (TAM) and in the clonal evolution towards acute megakaryoblastic leukaemia (AMKL) associated with Down syndrome (DS). This study aimed to develop and validate the clinical utility of a complementary DNA (cDNA) analysis in parallel with the conventional genomic DNA (gDNA) Sanger sequencing (Ss), as an initial screening test for <jats:italic>GATA1<\/jats:italic> mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p><jats:italic>GATA1<\/jats:italic> mutations were evaluated using both gDNA and cDNA in 14 DS patients using Ss and fragment analysis (FA), respectively.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The detection sensitivity of conventional gDNA sequencing was limited in low blast percentage TAM (LBP\u2010TAM); however, cDNA\u2010based Ss readily detected all the pathognomonic <jats:italic>GATA1<\/jats:italic> mutations. The cDNA\u2010based FA readily detected <jats:italic>GATA1<\/jats:italic> frameshift mutation with a reliable sensitivity ranging from 0.005% to 0.01% of clonal cells.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>GATA1<\/jats:italic> mutations are heterogeneous; therefore, we would like to propose a dual cDNA and gDNA analysis as a standard diagnostic approach, especially for LBP\u2010TAM. cDNA\u2010based FA promises an excellent sensitivity for detecting frameshift <jats:italic>GATA1<\/jats:italic> mutations in the longitudinal clonal evolution towards AMKL without using a patient specific primer.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.13756","type":"journal-article","created":{"date-parts":[[2021,11,11]],"date-time":"2021-11-11T02:29:00Z","timestamp":1636597740000},"page":"349-355","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Sensitive detection of <i>GATA1<\/i> mutations using complementary DNA\u2010based analysis for transient abnormal myelopoiesis associated with the Down syndrome"],"prefix":"10.1111","volume":"44","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2688-8522","authenticated-orcid":false,"given":"Shumpei","family":"Mizuta","sequence":"first","affiliation":[{"name":"Department of Clinical Laboratory Hyogo Prefectural Amagasaki General Medical Center Amagasaki Japan"},{"name":"Laboratory of Hematology Division of Medical Biophysics Kobe University Graduate School of Health Sciences Hyogo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noriko","family":"Yamane","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Hyogo Prefectural Amagasaki General Medical Center Amagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saya","family":"Mononobe","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Hyogo Prefectural Amagasaki General Medical Center Amagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asami","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Department of Clinical Laboratory Hyogo Prefectural Amagasaki General Medical Center Amagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritsuko","family":"Kitamura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hyogo Prefectural Amagasaki General Medical Center Amagasaki Japan"},{"name":"Department of Neonatology Hyogo Prefectural Amagasaki General Medical Center Amagasaki Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadamori","family":"Takahara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hyogo Prefectural Amagasaki General Medical Center Amagasaki Japan"},{"name":"Department of Neonatology Hyogo Prefectural Amagasaki General Medical Center Amagasaki 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