IMBICE   05372
INSTITUTO MULTIDISCIPLINARIO DE BIOLOGIA CELULAR
Unidad Ejecutora - UE
artículos
Título:
A reappraisal of complete mtDNA variation in East Asian families with hearing impairment
Autor/es:
YAO, Y.; SALAS, A.; BRAVI, C. M.; BANDELT, H.
Revista:
Human Genetics
Editorial:
Springer
Referencias:
Año: 2006 vol. 119 p. 505 - 515
ISSN:
0340-6717
Resumen:
In a number of recent studies, we summarized the obvious errors and shortcomingsthat can be spotted in many (if not most) mitochondrial DNA (mtDNA) data setspublished in medical genetics. We have reanalyzed here the complete mtDNA genomedata published in various recent reports of East Asian families with hearingimpairment, using a phylogenetic approach, in order to demonstrate thepersistence of lab-specific mistakes in mtDNA genome sequencing in cases wherethose caveats were (deliberately) neglected. A phylogenetic reappraisal ofcomplete mtDNAs with mutation A1555G (or G11778A) indeed supports the suggestedlack of association between haplogroup background and phenotypic presentation ofthese mutations in East Asians. In contrast, the claimed pathogenicity ofmutation T1095C in Chinese families with hearing impairment seems unsupported,basically because this mutation is rather basal in the mtDNA phylogeny, beingspecific to haplogroup M11 in East Asia. The roles of other haplogroup specificor associated variants, such as A827G, T961C, T1005C, in East Asian subjectswith aminoglycoside-induced and non-syndromic hearing loss are also unclear inview of the known mtDNA phylogeny.