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MT-TM
A4415G
A4435G
A4435G-F11
A4435G-F10
A4435G-F9
A4435G-F6
A4435G-F4
A4435G-F3
A4435G-F2
A4435G-F1
C4467A
C4467A-F1
G4403A
G4412A
G4412A-F1
G4450A
G4450A-F2
T4409C
T4414C
T4414C-F1
T4454C
T4454C-F2
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A4435G-F3
**Figure 1\. Pedigree diagram for family A4435G\-F3\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 4435 | m.4435A\>G | A4435G\-F3 | China | Hypertension | 9 | 8 | 2011 | [21694735](https://pubmed.ncbi.nlm.nih.gov/21694735/) | | The **m.4435A\>G** variant in MT\-TM was reported in family A4435G\-F3 from China with hypertension. The pedigree record reported 9 unaffected and 8 affected maternal relatives, and the carrier table includes 17 listed carriers. Homoplasmy was reported in all listed carriers; 8/17 carriers were affected, and the main clinical manifestation among affected carriers was high blood presure. # Carrier Information | **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-I2 | Uninf | F | N | Y | D | 65 | Homo | / | / | / | High blood presure | | | 2 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-II2 | Fam | F | N | Y | D | 63 | Homo | / | / | / | High blood presure | | | 3 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-II4 | Fam | F | N | Y | A | 64 | Homo | / | / | / | High blood presure | | | 4 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-II6 | Fam | F | N | Y | A | 56 | Homo | / | / | / | High blood presure | | | 5 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-II8 | Fam | F | N | Y | A | 53 | Homo | / | / | / | High blood presure | | | 6 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-II9 | Fam | M | Y | Y | A | 60 | Homo | / | / | / | High blood presure | | | 7 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III1 | Fam | M | N | Y | A | 57 | Homo | / | / | / | High blood presure | | | 8 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III2 | Fam | M | N | N | A | ND | Homo | / | / | / | Healthy | | | 9 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III3 | Fam | M | N | N | A | 48 | Homo | / | / | / | Healthy | | | 10 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III4 | Fam | M | N | N | A | 46 | Homo | / | / | / | Healthy | | | 11 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III5 | Fam | F | N | Y | A | 51 | Homo | / | / | / | High blood presure | | | 12 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III6 | Fam | M | N | N | A | 38 | Homo | / | / | / | Healthy | | | 13 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III7 | Fam | M | N | N | A | 38 | Homo | / | / | / | Healthy | | | 14 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III8 | Fam | F | N | N | A | 41 | Homo | / | / | / | Healthy | | | 15 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III9 | Fam | F | N | N | A | 30 | Homo | / | / | / | Healthy | | | 16 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III10 | Fam | F | N | N | A | 33 | Homo | / | / | / | Healthy | | | 17 | 4435 | m.4435A\>G | A4435G\-F3 | A4435G\-F3\-III11 | Fam | M | N | N | A | 26 | Homo | / | / | / | Healthy | | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月22日 15:50
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