Skip to main content
Fig. 2 | Journal of Hematology & Oncology

Fig. 2

From: Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing

Fig. 2

Mitochondrial DNA capture sequencing identified deletion mutations in two patients with Pearson marrow-pancreas syndrome. a Mitochondria coverage graph of Patient no. 1. b Mitochondria coverage graph of Patient no. 2. c Mitochondria coverage graph of the normal control. d The morbidity map of the human mtDNA genome shows that a deletion of range 6250–12,498 causes truncation of the mitochondrial genes COXI, COXII, ATP8, ATP6, COXIII, ND3, ND4L, ND4, and ND5 and of eight tRNA genes (S, D, K, G, R, LCUN, SAGY, and H) in Patient no. 1. In addition, the deletion of m. 8647–14,399 causes truncation of the mitochondrial genes ATP6, COIII, ND3, ND4L, ND4, and ND5 and of five tRNA genes (G, R, LCUN, SAGY, and H) in Patient no. 2

Back to article page