Mutational spectra of mtDNA CO1 and Cytb genes in individual CD34 clones from BM and PB
. | BM CD34 clones . | . | . | . | . | . | . | PB CD34 clones . | . | . | . | . | . | . | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Donor (age, y/sex) . | . | . | . | . | . | Heterogeneity . | . | . | . | . | . | . | Heterogeneity . | . | ||||||||||||
| . | mtDNA sequence* . | Gene . | Amino acid change . | Interpretation . | Clone no. . | Frequency, no. (%) . | Unique, no. (%) . | mtDNA sequence* . | Gene . | Amino acid change . | Interpretation . | Clone no. . | Frequency, no. (%) . | Unique, no. (%) . | ||||||||||||
| 1 (47/F) | ||||||||||||||||||||||||||
| Aggregate sequence | 92 | 2 (2.1) | 2 (2.1) | Aggregate sequence | 93 | 2 (2.1) | 2 (2.1) | |||||||||||||||||||
| + 7071T>C/T | CO1 | Met-Thr | Mutation/TS | 1 | — | — | + 6952T>C | CO1 | Val-Ala | Mutation/TS | 1 | — | — | |||||||||||||
| + 14924T>C | Cytb | Ser-Pro | Mutation/TS | 1 | — | — | + 7312T>C | CO1 | Phe-Ser | Mutation/TS | 1 | — | — | |||||||||||||
| Subtotal | 94 | — | — | Subtotal | 95 | — | — | |||||||||||||||||||
| 3 (43/M) | ||||||||||||||||||||||||||
| Aggregate sequence | 92 | 3 (3.2) | 3 (3.2) | Aggregate sequence | 90 | 3 (3.2) | 3 (3.2) | |||||||||||||||||||
| + 6955G>G/A | CO1 | Gly-Asp | Mutation/TS | 1 | — | — | + 6955G>G/A | CO1 | Gly-Asp | Mutation/TS | 1 | — | — | |||||||||||||
| + 6987T>C/T | CO1 | Ser-Pro | Mutation/TS | 1 | — | — | + 14935T>C | Cytb | Silent | Mutation/TS | 1 | — | — | |||||||||||||
| + 7110T>T/C | CO1 | Tyr-His | Mutation/TS | 1 | — | — | + 15724A>G/A | Cytb | Silent | Polymorphism/TS | 1 | — | — | |||||||||||||
| Subtotal | 95 | — | — | Subtotal | 93 | — | — | |||||||||||||||||||
| 5 (54/M) | ||||||||||||||||||||||||||
| Aggregate sequence | 91 | 5 (5.2) | 5 (5.2) | Aggregate sequence | 86 | 10 (10.4) | 7 (7.3) | |||||||||||||||||||
| + 6711T>G/T | CO1 | Tyr-Asp | Mutation/TV | 1 | — | — | + 7022T>T/C | CO1 | Silent | Polymorphism/TS | 4 | — | — | |||||||||||||
| + 6899G>A/G | CO1 | Silent | Mutation/TS | 1 | — | — | + 7075G>A/G | CO1 | Silent | Mutation/TS | 1 | — | — | |||||||||||||
| + 7022T>C/T | CO1 | Silent | Polymorphism/TS | 1 | — | — | + 14864T>C | Cytb | Cys-Arg | Mutation/TS | 1 | — | — | |||||||||||||
| + 7297T>C/T | CO1 | Val-Ala | Mutation/TS | 1 | — | — | + 15132T>C | Cytb | Met-Thr | Mutation/TS | 1 | — | — | |||||||||||||
| + 15607A>A/G, 14905G>G/A | Cytb | Silent | Polymorphism/TS | 1 | — | — | + 15818T>C | Cytb | Tyr-His | Mutation/TS | 1 | — | — | |||||||||||||
| Subtotal | 96 | — | — | + 15452C>C/A | Cytb | Leu-lle | Polymorphism/TV | 1 | — | — | ||||||||||||||||
| 15607A>A/G | Cytb | Silent | Polymorphism/TS | — | — | |||||||||||||||||||||
| + 14905G>G/A | Cytb | Silent | Polymorphism/TS | 1 | — | — | ||||||||||||||||||||
| 15067T>T/C | Cytb | Silent | Polymorphism/TS | — | — | |||||||||||||||||||||
| 15452C>C/A | Cytb | Leu-lle | Polymorphism/TS | — | — | |||||||||||||||||||||
| 15607A>A/G | Cytb | Silent | Polymorphism/TS | — | — | |||||||||||||||||||||
| Subtotal | 96 | — | — | |||||||||||||||||||||||
| Total | 285 | 10 (3.5) | 10 (3.5) | 284 | 15 (5.3) | 12 (4.2) | ||||||||||||||||||||
| Heterogeneity of mtDNA CO1 and Cytb gene in total CD34+ clones from BM and PB | 569 | 25 (4.4) | 22 (3.9) | |||||||||||||||||||||||
. | BM CD34 clones . | . | . | . | . | . | . | PB CD34 clones . | . | . | . | . | . | . | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Donor (age, y/sex) . | . | . | . | . | . | Heterogeneity . | . | . | . | . | . | . | Heterogeneity . | . | ||||||||||||
| . | mtDNA sequence* . | Gene . | Amino acid change . | Interpretation . | Clone no. . | Frequency, no. (%) . | Unique, no. (%) . | mtDNA sequence* . | Gene . | Amino acid change . | Interpretation . | Clone no. . | Frequency, no. (%) . | Unique, no. (%) . | ||||||||||||
| 1 (47/F) | ||||||||||||||||||||||||||
| Aggregate sequence | 92 | 2 (2.1) | 2 (2.1) | Aggregate sequence | 93 | 2 (2.1) | 2 (2.1) | |||||||||||||||||||
| + 7071T>C/T | CO1 | Met-Thr | Mutation/TS | 1 | — | — | + 6952T>C | CO1 | Val-Ala | Mutation/TS | 1 | — | — | |||||||||||||
| + 14924T>C | Cytb | Ser-Pro | Mutation/TS | 1 | — | — | + 7312T>C | CO1 | Phe-Ser | Mutation/TS | 1 | — | — | |||||||||||||
| Subtotal | 94 | — | — | Subtotal | 95 | — | — | |||||||||||||||||||
| 3 (43/M) | ||||||||||||||||||||||||||
| Aggregate sequence | 92 | 3 (3.2) | 3 (3.2) | Aggregate sequence | 90 | 3 (3.2) | 3 (3.2) | |||||||||||||||||||
| + 6955G>G/A | CO1 | Gly-Asp | Mutation/TS | 1 | — | — | + 6955G>G/A | CO1 | Gly-Asp | Mutation/TS | 1 | — | — | |||||||||||||
| + 6987T>C/T | CO1 | Ser-Pro | Mutation/TS | 1 | — | — | + 14935T>C | Cytb | Silent | Mutation/TS | 1 | — | — | |||||||||||||
| + 7110T>T/C | CO1 | Tyr-His | Mutation/TS | 1 | — | — | + 15724A>G/A | Cytb | Silent | Polymorphism/TS | 1 | — | — | |||||||||||||
| Subtotal | 95 | — | — | Subtotal | 93 | — | — | |||||||||||||||||||
| 5 (54/M) | ||||||||||||||||||||||||||
| Aggregate sequence | 91 | 5 (5.2) | 5 (5.2) | Aggregate sequence | 86 | 10 (10.4) | 7 (7.3) | |||||||||||||||||||
| + 6711T>G/T | CO1 | Tyr-Asp | Mutation/TV | 1 | — | — | + 7022T>T/C | CO1 | Silent | Polymorphism/TS | 4 | — | — | |||||||||||||
| + 6899G>A/G | CO1 | Silent | Mutation/TS | 1 | — | — | + 7075G>A/G | CO1 | Silent | Mutation/TS | 1 | — | — | |||||||||||||
| + 7022T>C/T | CO1 | Silent | Polymorphism/TS | 1 | — | — | + 14864T>C | Cytb | Cys-Arg | Mutation/TS | 1 | — | — | |||||||||||||
| + 7297T>C/T | CO1 | Val-Ala | Mutation/TS | 1 | — | — | + 15132T>C | Cytb | Met-Thr | Mutation/TS | 1 | — | — | |||||||||||||
| + 15607A>A/G, 14905G>G/A | Cytb | Silent | Polymorphism/TS | 1 | — | — | + 15818T>C | Cytb | Tyr-His | Mutation/TS | 1 | — | — | |||||||||||||
| Subtotal | 96 | — | — | + 15452C>C/A | Cytb | Leu-lle | Polymorphism/TV | 1 | — | — | ||||||||||||||||
| 15607A>A/G | Cytb | Silent | Polymorphism/TS | — | — | |||||||||||||||||||||
| + 14905G>G/A | Cytb | Silent | Polymorphism/TS | 1 | — | — | ||||||||||||||||||||
| 15067T>T/C | Cytb | Silent | Polymorphism/TS | — | — | |||||||||||||||||||||
| 15452C>C/A | Cytb | Leu-lle | Polymorphism/TS | — | — | |||||||||||||||||||||
| 15607A>A/G | Cytb | Silent | Polymorphism/TS | — | — | |||||||||||||||||||||
| Subtotal | 96 | — | — | |||||||||||||||||||||||
| Total | 285 | 10 (3.5) | 10 (3.5) | 284 | 15 (5.3) | 12 (4.2) | ||||||||||||||||||||
| Heterogeneity of mtDNA CO1 and Cytb gene in total CD34+ clones from BM and PB | 569 | 25 (4.4) | 22 (3.9) | |||||||||||||||||||||||
CO1 indicates cytochrome c oxidase 1; Cytb, cytochrome b; BM, bone marrow; TS, transition; TV, transversion; PB, peripheral blood; and —, not applicable. Sequences in bold indicate the same changes seen in BM CD34 and PB CD34 clones.