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MT-CYB
A15579G
A15662G
A15662G-F1
C15347T
C15620A
C15620A-F1
G14846A
G14846A-F1
C15800T
G15043A
G15043A-F1
G15059A
G15077A
G15077A-F1
G15084A
G15092A
G15150A
G15168A
G15170A
G15215A
G15243A
G15242A
G15350A
G15497A
G15497A-F1
G15498A
G15498A-F2
G15723A
G15699C
G15699C-F1
G15615A
G15615A-F1
G15761A
G15762A
G15812A
G15812A-F1
T14849C
T14864C
T15287C
T15287C-F1
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G15043A-F1
**Figure 1\. Pedigree diagram for family G15043A\-F1\.**  # Pedigree Information | **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** | | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | | 1 | 15043 | m.15043G\>A | G15043A\-F1 | China | Diabetes Mellitus, Sensorineural Hearing Loss | 2 | 2 | 2021 | [https://kns.cnki.net/kcms2/article/abstract?v\=YvzTZTPVeK5eONuvf4W4vrxwQbsvNz7hwMhOPaWJjEBOlJi01RYXCzQ2\-zBVYbFpw0Ltv4hQL60A3YOjKfgmNW9K7tF6DXKjDAHv2Lcvpdfv6k48lbU\-KLxoI2V5sKQ4fWbHy5vXzfMoyMPgp3h2qEDU2y9tGf4PDtZ3IdlUgCweTY1DgF1Dmj8hXdwMCRQIVR6UWVqU4GQ\=\&uniplatform\=NZKPT\&language\=CHS](https://kns.cnki.net/kcms2/article/abstract?v=YvzTZTPVeK5eONuvf4W4vrxwQbsvNz7hwMhOPaWJjEBOlJi01RYXCzQ2-zBVYbFpw0Ltv4hQL60A3YOjKfgmNW9K7tF6DXKjDAHv2Lcvpdfv6k48lbU-KLxoI2V5sKQ4fWbHy5vXzfMoyMPgp3h2qEDU2y9tGf4PDtZ3IdlUgCweTY1DgF1Dmj8hXdwMCRQIVR6UWVqU4GQ=&uniplatform=NZKPT&language=CHS) | Co\-occurring m.3243A\>G; source PDF not supplied in current ZIP. | The **m.15043G\>A** variant in MT\-CYB was reported in family G15043A\-F1 from China with diabetes mellitus, sensorineural hearing loss. The pedigree record reported 2 unaffected and 2 affected maternal relatives, and the carrier table includes 3 listed carriers. Homoplasmy was reported in 0/3 listed carriers; 2/3 carriers were affected, and the main clinical manifestation among affected carriers was diabetes mellitus, sensorineural hearing loss. # 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 | 15043 | m.15043G\>A | G15043A\-F1 | G15043A\-F1\-II2 | Uninf | F | Y | Y | A | 38 | 99\.91% | / | / | / | Diabetes Mellitus, Sensorineural Hearing Loss | Co\-occurring m.3243A\>G. | | 2 | 15043 | m.15043G\>A | G15043A\-F1 | G15043A\-F1\-III2 | Fam | F | N | Y | A | 41 | 99\.9% | / | / | / | Diabetes Mellitus, Sensorineural Hearing Loss | Co\-occurring m.3243A\>G. | | 3 | 15043 | m.15043G\>A | G15043A\-F1 | G15043A\-F1\-IV1 | Fam | M | N | N | A | 15 | 99\.91% | / | / | / | Healthy | Co\-occurring m.3243A\>G. Clinical Features previously contained family\-level disease text; row is marked unaffected. | For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).
Haoyu He
2026年6月30日 16:18
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