Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study. | Goto et al. Genome Biology 2011 12 R59 http 2011 12 6 R59 Genome Biology RESEARCH Open Access Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequeneing study I lir J i s z 1 t D I I Chi z 1 1 r 2t c I r fz t 2 I h I D-SI 114 I-s x r I s z I z . r3 r r r l h h I l z z- 1 s V -J HiroKi Goto Benjamin DicKins tnis Argan Ian M Paul James layior Kateryna D MaKova ano Anton NeKrutenKo2 Abstract Background Originally believed to be a rare phenomenon heteroplasmy - the presence of more than one mitochondrial DNA mtDNA variant within a cell tissue or individual - is emerging as an important component of euKaryotic genetic diversity. Heteroplasmies can be used as genetic marKers in applications ranging from forensics to cancer diagnostics. Yet the frequency of heteroplasmic alleles may vary from generation to generation due to the bottlenecK occurring during oogenesis. Therefore to understand the alterations in allele frequencies at heteroplasmic sites it is of critical importance to investigate the dynamics of maternal mtDNA transmission. Results Here we sequenced at high coverage mtDNA from blood and buccal tissues of nine individuals from three families with a total of six maternal transmission events. Using simulations and re-sequencing of clonal DNA we devised a set of criteria for detecting polymorphic sites in heterogeneous genetic samples that is resistant to the noise originating from massively parallel sequencing technologies. Application of these criteria to nine human mtDNA samples revealed four heteroplasmic sites. Conclusions Our results suggest that the incidence of heteroplasmy may be lower than estimated in some other recent re-sequencing studies and that mtDNA allelic frequencies differ significantly both between tissues of the same individual and between a mother and her offspring. We designed our study in such a way that the complete analysis described here can be repeated by anyone either at our
