Figure 3.

High‐throughput sequencing of the HBB gene IVSII654 mutation. (A) The genomic location of the HBB gene on chromosome 11 (red grid). (B, C) A heterozygous genotype at the c.316‐197 site (IVSII654) was detected in the single‐cell fibroblast samples, which were amplified using either the MALBAC or MDA method. (D) The ADO was observed in a single‐cell fibroblast sample amplified using the MDA method, indicating that the wild‐type IVSII654 allele was missing. (E, F) A heterozygous genotype at the c.52A>AT (CD17 allele) was detected in a single‐cell fibroblast sample, which was amplified using the MALBAC and MDA methods. (G) A homozygous wild‐type CD17 allele was detected in a single‐cell fibroblast sample that was amplified using the MALBAC method. The dashed black lines indicate the positions of IVSII654 and CD17, respectively