Preimplantation genetic diagnosis for α-and β-double thalassemia.

Purpose: To evaluate the use of multiple displacement amplification (MDA) for preimplantation genetic diagnosis (PGD) of α- and β-double thalassemia.

Method: Whole genome of a single cell was directly amplified using MDA and its products were used as templates in fluorescent gap polymerase chain reaction (PCR) analysis of α-thalassemia and in PCR-reverse dot blot analysis, singleplex fluorescent PCR of β-28 and CD17 mutation and HumTH01 for β-thalassemia.

Results: 1) MDA from single cell could produce enough DNA templates for the detection of both α and β-thalassemia; 2) The established MDA-PGD protocol for α- and β-double thalassemia was successfully applied in PGD of six embryos, among which, three were transferred, but no pregnancy ensued.

Conclusions: The use of MDA as a universal step allows for the simultaneous diagnosis of two or more hereditary defects.