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. 2011 Jun 11;28(10):957–964. doi: 10.1007/s10815-011-9598-5

Table 2.

Clinical preimplantation genetic diagnosis results

Embryos α-thalassemia β-thalassemia Outcomes
Amplified signal (bp) Diagnosis PCR-RDB and fluorescent PCR HumTH01 Diagnosis
β-17 (mut/nor) β-28 (mut/nor) Pat (bp) Mat (bp)
E1 178 Affected NS X NS X 127 115 Normal NTE
E2 282 Normal X ADO NS X 127 127 β-17 carrier ET
E3 178/282 Carrier NS X X ADO 119 127 β-28 carrier ET
E4 178/282 Carrier X X NS X 127 127 β-17 carrier NTE
E5 Amplification failure NS X NS X 127 115 Normal NTE
E6 282 Normal NS X X ADO 119 ADO β-28 carrier ET

ADO allele drop out; NS no signal; X visible signal; mut mutant dot;nor normal dot; pat paternal allele; mat maternal allele; ET embryo transfer; NTE nontransferred embryos.