Figure - PMC

Skip to main content

An official website of the United States government

Here's how you know

Here's how you know

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

View full-text article in PMC

. 2014 Apr 28;1(5):361–369. doi: 10.1002/acn3.59

Search in PMC
Search in PubMed
View in NLM Catalog
Add to search

© 2014 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.

This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

PMC Copyright notice

Novel mutation m.14439G>A in Pt377 mtDNA. (A) Trio-sequencing analysis of m.14439G>A (MT-ND6 p.P79S) change in Pt377 family. Sequence chromatograms show that the m.14439G>A is detectable only in Pt377. (B) PCR-RFLPanalysis using fibroblast mtDNA from Pt377 and blood from both parents. A 619-bp PCR fragment was digested with Hpy188I. Wild-type mtDNA was cleaved into two fragments of 333 and 286 bp as shown in “Mother” and “Father”, whereas the PCR product containing the m.14439G>A mutation was cleaved into three fragments: 286, 227, and 106 bp (“Pt377”). Undigested = undigested PCR product. (C) Alignment of MT-ND6 protein between different species shows the conservation of amino acid Proline 79. Amino acid sequences of MT-ND6 gene products were aligned by ClustalW program (http://www.ebi.ac.uk/Tools/msa/clustalw2/) and NCBI/homologene (http://www.ncbi.nlm.nih.gov/homologene).