{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T02:17:06Z","timestamp":1768443426090,"version":"3.49.0"},"reference-count":22,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2001,8,20]],"date-time":"2001-08-20T00:00:00Z","timestamp":998265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2001,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Haemoglobinopathies including \u03b1\u2010 and \u03b2\u2010thalassaemia are the world's most common class of single gene disorder. Prenatal diagnosis (PND) for \u03b2\u2010thalassaemia has been proven to be an effective strategy for controlling the incidence of new cases and is widely used in several countries where the disease is common. Successful preimplantation genetic diagnosis (PGD) protocols for \u03b2\u2010thalassaemia have been introduced using restriction fragment length polymorphism (RFLP), single\u2010stranded conformation polymorphism (SSCP) and denaturing gradient gel electrophoresis (DGGE). However, contamination and allele dropout (ADO) remain an important concern for all of these strategies. In the present study two PGD protocols for detecting \u03b2\u2010thalassaemia mutations (codon 41\u201042 and IVSI\u2010110) and one for \u03b1\u2010thalassaemia (SEA mutation) have been designed and tested. These methods contain failsafe mechanisms to reduce the risk of misdiagnosis due to ADO or contamination and utilise multiplex fluorescent PCR (F\u2010PCR). Interestingly, amplification efficiency and ADO were significantly affected by the choice of DNA polymerase and the freshness of the single cells used. The close similarity between the DNA sequences of \u03b2\u2010globin and \u03b4\u2010globin was also found to be an important issue that necessitated careful design of primers for the \u03b2\u2010globin gene. Copyright \u00a9 2001 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.170","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T21:23:24Z","timestamp":1030310604000},"page":"753-759","source":"Crossref","is-referenced-by-count":39,"title":["Preimplantation genetic diagnostic protocols for \u03b1\u2010 and \u03b2\u2010thalassaemias using multiplex fluorescent PCR"],"prefix":"10.1002","volume":"21","author":[{"given":"Wirawit","family":"Piyamongkol","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joyce C.","family":"Harper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joy D. 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