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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: Diagnostic value of fetal hemoglobin Bart’s for evaluation of fetal α-thalassemia syndromes: application to prenatal characterization of fetal anemia caused by undiagnosed α-hemoglobinopathy

Fig. 4

Identification of αHb Amsterdam A1, αHb Queens Park and αIVSI−117(G>A) mutations on α1-globin gene by PCR–RFLP assay using BtsCI digestion as described in the Materials and methods section. The length of the amplified fragment is 975 bp. Upon digestion, the normal allele is digested into two DNA fragments with 457 bp and 518 bp in lengths, whereas the mutant counterpart remains undigested at 975 bp in length. M represents the GeneRuler 100 bp plus DNA ladder. 1: Undigested amplified DNA, 2: BtsCI-digested amplified DNA of compound heterozygous α0-thalassemia and αIVSI−117(G>A), 3 and 4: BtsCI-digested amplified DNA of the normal subjects, 5: BtsCI-digested amplified DNA of Hb Amsterdam A1 trait, 6: BtsCI-digested amplified DNA of Hb Queens Park trait, and 7: BtsCI-digested amplified DNA of a compound heterozygous for α0-thalassemia and Hb Queens Park with Hb E heterozygote (the Hb Queens Park AEBart’s disease)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172