Ontology highlight
ABSTRACT:
SUBMITTER: Torroni A
PROVIDER: S-EPMC1288287 | biostudies-literature | 1999 Nov
REPOSITORIES: biostudies-literature
Torroni A A Cruciani F F Rengo C C Sellitto D D López-Bigas N N Rabionet R R Govea N N López De Munain A A Sarduy M M Romero L L Villamar M M del Castillo I I Moreno F F Estivill X X Scozzari R R
American journal of human genetics 19991101 5
The mtDNA variation of 50 Spanish and 4 Cuban families affected by nonsyndromic sensorineural deafness due to the A1555G mutation in the 12S rRNA gene was studied by high-resolution RFLP analysis and sequencing of the control region. Phylogenetic analyses of haplotypes and detailed survey of population controls revealed that the A1555G mutation can be attributed to >/=30 independent mutational events among the 50 Spanish families and that it occurs on mtDNA haplogroups that are common in all Eur ...[more]