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. 2017 Apr 6;62(8):747–754. doi: 10.1038/jhg.2017.41

Table 4. Validation of a multiplex PCR assay for simultaneous detection of the SEA deletion α0-thalassemia and a T allele of SNP rs3760053 with size polymorphism of inter-ζ HVR in 155 individuals as compared to the conventional gap-PCR assay.

Inter-ζ HVR with T allele of rs3760053 SEA α0-thal (660 bp) Internal control (836 bp) No Diagnosis by multiplex PCR Gap-PCR No
S + 10 Normal αα/αα 41
M + 26      
L + 5      
S + + 14 Heterozygote (αα / —SEA) αα/—SEA 104
M + + 58      
L + + 31      
+ + 1      
+ 10 Homozygote (—SEA / —SEA) SEA/—SEA 10
Total 155     155

Abbreviations: HVR, hypervariable region; SNP, single-nucleotide polymorphism.