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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20081022001 (26 Nov 2012, UnknownUser)Edit Attach
Unpublished Variant 20081022001
This is a record of an observed human mtDNA variant submitted to MITOMAP- Submitters may return to this page at any time to update the information. Submitters who wish to amend a record submitted before November 2009 must register and send an email to mitomap@email.chop.edu to obtain editing privileges on the page.
- MITOMAP list of submitted variants
- MITOMASTER allele analysis
Citing this variant:
Yang, Juhua 2008. MITOMAP mtDNA Sequence Data, https://mitomaster.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20081022001
VariantSubmissionForm edit
| LastName | Yang |
| FirstName | Juhua |
| MiddleName | |
| Julian_yang@126.com | |
| OrganizationName | Biomedical Engineering Center, Fujian Medical University |
| OrganizationURL | |
| Country | China |
| Address | 88 Jiaotong Road, Fuzhou, Fujian |
| PILastName | Yang |
| PIFirstName | Juhua |
| PIMiddleName | |
| PIEmail | Julian_yang@126.com |
| OtherContributor | |
| PolymorphismPosition | 10680 |
| Polymorphism | A |
| AlleleType | polymorphism |
| NAChange | G-A |
| AAChange | A-T |
| Locus | MT-ND4L |
| InsertPrePosition | |
| InsertPostPosition | |
| Insert | |
| DeletionPosition | |
| DeletionLength | |
| OtherAllele | |
| ComplexCategory | |
| Detection | automated |
| SampleID | LHON-01-001 |
| Tissue | blood |
| Phenotype | LHON |
| Ethnicity | Han Chinese |
| Origin | China |
| Haplogroup | East Asian haplogroup B4b'd |
| Comment | We describe a four-generation Chinese LHON family (20 patients) with complete penetrance and very high percentage of recovery vison(88pct). Sequence analysis of the complete mtDNA in two patients (the proband Ⅳ:12 and his mother Ⅲ:9) of this LHON family revealed that a total of 28 base changes, 25 of which were known polymorphisms. Among of these variants, seven missense variants in the protein encoding genes present in patients’ mtDNA, including T14484C mutation, one novel G10680A variant in ND4L, and five known polymorphic variants, A8860G in ATP6, A13942G in ND5, A15038G, C14766T and A15326G in Cytb.%The novel G10680A mutation changes the highly evolutionarily conserved amino acid Ala at 71 in ND4L, which the Ala residue is found in 59 of 61 mammalian species (http://mtsnp.tmig.or.jp/mtsnp/search_mtSAP_evaluation_e.html). This mutation was absent in other members of this family and 100 unrelated Han Chinese control subjects, and it was not mtDNA polymorphism by researching Human mtDB which comprises 1865 complete sequences and 839 coding region sequences. We suggest that the G10680A mutation may act in synergy with the primary T14484C mutation, increasing the risk of disease expression, which may account for the complete penetrance of our LHON family.% Previous submittal id 20080526002. |
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Topic revision: r1 - 26 Nov 2012, UnknownUser
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