New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation.

doi:10.1186/1471-2350-9-41

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Article

New evidence of a mitochondrial genetic background paradox: impact of the J haplogroup on the A3243G mutation.

BMC medical genetics - 7 May 2008

Pierron Denis, Rocher Christophe, Amati-Bonneau Patricia, Reynier Pascal, Martin-Négrier Marie-Laure, Allouche Stéphane, Batandier Cécile, Mousson de Camaret Benedicte, Godinot Catherine, Rotig Agnes, Feldmann Delphine, Bellanne-Chantelot Christine, Arveiler Benoit, Pennarun Erwann, Rossignol Rodrigue, Crouzet Marc, Murail Pascal, Thoraval Didier, Letellier Thierry

Abstract excerpt

BACKGROUND: The A3243G mutation in the tRNALeu gene (UUR), is one of the most common pathogenic mitochondrial DNA (mtDNA) mutations in France, and is associated with highly variable and heterogeneous disease phenotypes. To define the relationships between the A3243G mutation and mtDNA backgrounds, we determined the haplogroup affiliation of 142 unrelated French patients - diagnosed as carriers of the A3243G...

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PMID: 18462486
DOI: 10.1186/1471-2350-9-41
PMCID: PMC2409300

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