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You are here: Foswiki>MITOMAP/Submissions Web>VariantSubmission>AlleleExamples>VariantSubmission>20081105001 (17 Nov 2015, UnknownUser)
Unpublished Variant 20081105001
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:
Padma, Gunda; Ramchander, P. V. 2008. MITOMAP mtDNA Sequence Data, https://www.mitomap.org/foswiki/bin/view/MITOMAP/Submissions/20081105001
VariantSubmissionForm edit
| LastName | Padma |
| FirstName | Gunda |
| MiddleName | |
| padma.genetics@gmail.com | |
| OrganizationName | OSMANIA UNIVERSITY |
| OrganizationURL | |
| Country | India |
| Address | DEPARTMENT OF GENETICS, OSMANIA UNIVERSITY, HYDERABAD-500007 |
| PILastName | Padma |
| PIFirstName | Tirunilai |
| PIMiddleName | |
| PIEmail | padmatirunilai@gmail.com |
| OtherContributor | Ramchander, P. V. |
| PolymorphismPosition | 1453 |
| Polymorphism | G |
| AlleleType | polymorphism |
| NAChange | A-G |
| AAChange | noncod |
| Locus | MT-RNR1 |
| InsertPrePosition | |
| InsertPostPosition | |
| Insert | |
| DeletionPosition | |
| DeletionLength | |
| OtherAllele | |
| ComplexCategory | |
| Detection | automated |
| SampleID | Hyd-1; Hyd-2 |
| Tissue | blood |
| Phenotype | Non-Syndromic Hearing Impairment (NSHI) |
| Ethnicity | Hindu |
| Origin | India |
| Haplogroup | - |
| Comment | The mutation A-G at position 1453 was found in two unrelated individuals (Hyd-1 and Hyd-2) showed typical maternal inheritance segregating in three generations.The sample Hyd-1 also showed homozygosity for W24X mutation in Exon-2 of GJB2 gene. The proband had severe hearing impairment requiring 110 decibels. This probably indicates the interaction of nuclear-mitochondrial genes influencing clinical expression.%%The sample Hyd-2 did not show mutations %screened in GJB2 (35delG, W24X, 231G-A, 235delC, 167delT in Exon-2 of Connexin 26) and GJB6 (342Kb deletion in Exon-3 of Connexin 30).%%Entire GJB6 gene was screened for possible mutations by SSCP but no variation was found in the two DNA samples reported. |
Topic revision: r1 - 17 Nov 2015, UnknownUser
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