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MT-TC
A5816G
A5816G-F2
A5816G-F1
C5820A
G5780A
G5780A-F1
G5783A
G5783A-F1
G5783A-F7
G5783A-F8
G5821A
G5821A-F4
G5821A-F3
G5821A-F2
G5821A-F1
T5789C
T5789C-F1
T5794C
T5802C
T5802C-F3
T5802C-F2
T5802C-F1
T5814C
T5814C-F5
T5814C-F4
T5814C-F3
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G5821A-F1
**Figure 1\. Pedigree diagram for family G5821A\-F1\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 5821 | m.5821G\>A | G5821A\-F1 | China | Hypertension | 1 | 3 | 2017 | [28259969](https://pubmed.ncbi.nlm.nih.gov/28259969/) | Carrying homo A4401G | The **m.5821G\>A** variant in MT\-TC was reported in family G5821A\-F1 from China with hypertension. The pedigree record reported 1 unaffected and 3 affected maternal relatives, and the carrier table includes 5 listed carriers. Homoplasmy was reported in all listed carriers; 4/5 carriers were affected, and the main clinical manifestation among affected carriers was hypertension. # 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 | 5821 | m.5821G\>A | G5821A\-F1 | G5821A\-F1\-I2 | uninf | F | N | Y | A | 83 | Homo | / | / | / | Hypertension | Carrying homo A4401G | | 2 | 5821 | m.5821G\>A | G5821A\-F1 | G5821A\-F1\-II1 | fam | M | N | N | A | ND | Homo | / | / | / | Healthy | Carrying homo A4401G | | 3 | 5821 | m.5821G\>A | G5821A\-F1 | G5821A\-F1\-II3 | fam | M | N | Y | A | 57 | Homo | / | / | / | Hypertension | Carrying homo A4401G | | 4 | 5821 | m.5821G\>A | G5821A\-F1 | G5821A\-F1\-II6 | fam | F | Y | Y | A | 59 | Homo | / | / | / | Hypertension | Carrying homo A4401G | | 5 | 5821 | m.5821G\>A | G5821A\-F1 | G5821A\-F1\-III4 | fam | F | N | Y | A | 35 | Homo | / | / | / | Hypertension | Carrying homo A4401G | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoying Chen
2026年6月22日 11:27
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