Blood Research

Molecular diagnostic methods for thalassemia.

Mutation type Method
Deletion Gap PCR
MLPAa,b)
Non-deletion Allele-specific PCR
Reverse dot blotting
Denaturing gradient gel electrophoresis
ARMS
Sanger sequencinga)
Next-generation sequencinga)

a)Methods currently applied in clinical laboratories in Korea. b)Commercial kits available [SALSA MLPA Probemix P140 and P102 (MRC-Holland, Amsterdam, The Netherlands)].

Abbreviations: ARMS, amplification refractory mutation system; MLPA, multiplex ligation-dependent probe amplification; PCR, polymerase chain reaction.

Blood Res 2021;56:S39~S43 https://doi.org/10.5045/br.2021.2020332
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