Related Experiment Video
Updated: Jul 6, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Molecular characterization of putative modulatory factors in two Spanish families with A1555G deafness
D Otaegui1, H Irizar, M Goicoechea
1Unidad Experimental, Hospital Donostia, San Sebastián, Spain. dotaegui@chdo.osakidetza.net
Abstract:
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.
Related Concept Videos
Incomplete Dominance
Genetic Lingo
Pleiotropy
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenomics: Identification of New Drug Targets
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...

