Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness.
The aim of this work is to characterize possible modifying factors in 2 large families carrying the A1555G mitochondrial mutation. The heteroplasmy of the mutation, the presence of aminoglycosides, the cosegregation with other mitochondrial mutations, the proposed linkage in chromosome 8 and the association with TRMU and MTO1 genes were studied. None of the mentioned modifying factors were related with the phenotype presentation of A1555G mutation. However, TRMU G28T single nucleotide polymorphism is present in 1 of the studied families.
Otaegui
D
D
Unidad Experimental, Hospital Donostia, San Sebastián, Spain. dotaegui@chdo.osakidetza.net
Irizar
H
H
Goicoechea
M
M
Pérez-Tur
J
J
Belar
M
M
López de Munain
A
A
D002352:Carrier Proteins / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide; D016601:RNA-Binding Proteins; D013030:Spain; D012359:tRNA Methyltransferases / Q000235:genetics*
D002352:Carrier Proteins; D004272:DNA, Mitochondrial; C492006:MTO1 protein, human; D024101:Mitochondrial Proteins; D016601:RNA-Binding Proteins; D012359:tRNA Methyltransferases; C496706:TRMU protein, human