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

ABSTRACT:

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 mutation - by control-region sequencing and RFLP survey of their mtDNAs.

Results

The analysis revealed 111 different haplotypes encompassing all European haplogroups, indicating that the 3243 site might be a mutational hot spot. However, contrary to previous findings, we observed a statistically significant underepresentation of the A3243G mutation on haplogroup J in patie

SUBMITTER: Pierron D 

PROVIDER: S-EPMC2409300 | biostudies-literature | 2008 May

REPOSITORIES: biostudies-literature