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.