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Fig. 3 | BMC Genomics

Fig. 3

From: Development of pre-implantation genetic testing protocol for monogenic disorders (PGT-M) of Hb H disease

Fig. 3

The results of the novel Hb H disease− SEA/−3.7kb genotyping protocol of each α-thalassemia genotype. A shows the results of normal α-globin (αα/αα) genotype with positive normal fragments i.e. blue 303 bp HBA2, blue 311 bp HBA1, blue 252 bp internal control by the -α3.7 primer set and normal blue 288 bp 5’ breakpoint and green 130 bp 3’ breakpoint by the -αSEA primer set from the normal αα allele. B shows results of the compound heterozygous Hb H disease− SEA/−3.7kb with positive only blue 303 bp HBA2 fragment from -α3.7 allele and normal blue 288 bp 5’ -SEA breakpoint and green 130 bp 3’ -SEA breakpoint and blue/green 217 bp mutant fragment. C shows the results of heterozygous − 3.7 kb (-α3.7/αα) genotype with positive normal fragments i.e. blue 303 bp HBA2, blue 311 bp HBA1, blue 252 bp internal control and normal blue 288 bp 5’ -αSEA breakpoint and green 130 bp 3’ -SEA breakpoint. D shows results of the homozygous − 3.7 kb (-α3.7/-α3.7) genotype with positive only blue 311 bp HBA1 fragments and normal blue 288 bp 5’ -SEA breakpoint and green 130 bp 3’ -SEA breakpoint. E shows results of the heterozygous -SEA deletion (--SEA/αα) genotype with positive normal fragments i.e. blue 303 bp HBA2, blue 311 bp HBA1, blue 252 bp internal control and normal blue 288 bp 5’ -SEA breakpoint and green 130 bp 3’ -SEA breakpoint and blue/green 217 bp mutant fragment from the --SEA allele. F shows results of the homozygous -SEA deletion (--SEA/--SEA) genotype with positive only blue/green 217 bp mutant fragment from the --SEA allele

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