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Fig. 2.

Gene scan analysis of poly C-stretch region at nucleotide position (np) 303–315, 16184–16193, and 514–515(CA)5 repeats. (A) The mtDNA D-loop HV2 (303 poly-C) region. Capillary electropherogram of the np 303 poly-C region from AML patient No.123 showed 9CT6C as a C insertion type. (B) The mtDNA D-loop HV1 (16189 poly-C) region. Capillary electropherogram of np 16184–16193 poly-C region from samples of AML No.29 patient also disclosed the profile of several mtDNA types (heteroplasmic mutations). (C) The mtDNA D-loop HV2 514–515(CA)5 repeats region. Gene scan analysis of CA repeats starting at np 514 (AML No.27 patient) also disclosed heteroplasmic mutations, which suggest the coexistence of wildtype and mutant mtDNA in the same patient.

Blood Res 2018;53:240~249 https://doi.org/10.5045/br.2018.53.3.240
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