Skip to main content
Log in

A reappraisal of complete mtDNA variation in East Asian families with hearing impairment

  • Original Investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

In a number of recent studies, we summarized the obvious errors and shortcomings that can be spotted in many (if not most) mitochondrial DNA (mtDNA) data sets published in medical genetics. We have reanalyzed here the complete mtDNA genome data published in various recent reports of East Asian families with hearing impairment, using a phylogenetic approach, in order to demonstrate the persistence of lab-specific mistakes in mtDNA genome sequencing in cases where those caveats were (deliberately) neglected. A phylogenetic reappraisal of complete mtDNAs with mutation A1555G (or G11778A) indeed supports the suggested lack of association between haplogroup background and phenotypic presentation of these mutations in East Asians. In contrast, the claimed pathogenicity of mutation T1095C in Chinese families with hearing impairment seems unsupported, basically because this mutation is rather basal in the mtDNA phylogeny, being specific to haplogroup M11 in East Asia. The roles of other haplogroup specific or associated variants, such as A827G, T961C, T1005C, in East Asian subjects with aminoglycoside-induced and non-syndromic hearing loss are also unclear in view of the known mtDNA phylogeny.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

Similar content being viewed by others

References

  • Abe S, Usami S, Shinkawa H, Weston MD, Overbeck LD, Hoover DM, Kenyon JB, Horai S, Kimberling WJ (1998) Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation. Eur J Hum Genet 6:563–569

    Article  PubMed  CAS  Google Scholar 

  • Achilli A, Rengo C, Magri C, Battaglia V, Olivieri A, Scozzari R, Cruciani F, Zeviani M, Briem E, Carelli V, Moral P, Dugoujon JM, Roostalu U, Loogväli EL, Kivisild T, Bandelt H-J, Richards M, Villems R, Santachiara-Benerecetti AS, Semino O, Torroni A (2004) The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet 75:910–918

    Article  PubMed  CAS  Google Scholar 

  • Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457–465

    Article  PubMed  CAS  Google Scholar 

  • Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147

    Article  PubMed  CAS  Google Scholar 

  • Bandelt H-J (2004) Etruscan artifacts. Am J Hum Genet 75:919–920

    Article  PubMed  CAS  Google Scholar 

  • Bandelt H-J (2005) Mosaics of ancient mitochondrial DNA: positive indicators of nonauthenticity. Eur J Hum Genet 13:1106–1112

    Article  PubMed  CAS  Google Scholar 

  • Bandelt H-J, Achilli A, Kong Q-P, Salas A, Lutz-Bonengel S, Sun C, Zhang Y-P, Torroni A, Yao Y-G (2005a) Low “penetrance” of phylogenetic knowledge in mitochondrial disease studies. Biochem Biophys Res Commun 333:122–130

    Article  CAS  Google Scholar 

  • Bandelt H-J, Herrnstadt C, Yao Y-G, Kong Q-P, Kivisild T, Rengo C, Scozzari R, Richards M, Villems R, Macaulay V, Howell N, Torroni A, Zhang Y-P (2003) Identification of Native American founder mtDNAs through the analysis of complete mtDNA sequences: some caveats. Ann Hum Genet 67:512–524

    Article  PubMed  CAS  Google Scholar 

  • Bandelt H-J, Kivisild T (2006) Quality assessment of DNA sequence data: autopsy of a mis-sequenced mtDNA population sample. Ann Hum Genet (Jan 17, 2006, Epub ahead of print; doi: 10.1111/j.1529-8817.2005.00234.x)

  • Bandelt H-J, Kong Q-P, Parson W, Salas A (2005b) More evidence for non-maternal inheritance of mitochondrial DNA? J Med Genet 42:957–960

    Article  CAS  Google Scholar 

  • Bandelt H-J, Lahermo P, Richards M, Macaulay V (2001) Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med 115:64–69

    Article  PubMed  CAS  Google Scholar 

  • Bandelt H-J, Parson W (2004) Fehlerquellen mitochondrialer DNS-Datensätze und Evalution der mtDNS-Datenbank “D-Loop-BASE. Rechtsmedizin 14:251–257

    Article  Google Scholar 

  • Bandelt H-J, Quintana-Murci L, Salas A, Macaulay V (2002) The fingerprint of phantom mutations in mitochondrial DNA data. Am J Hum Genet 71:1150–1160

    Article  PubMed  CAS  Google Scholar 

  • Bandelt H-J, Salas A, Bravi C (2004a) Problems in FBI mtDNA database. Science 305:1402–1404

    Article  CAS  Google Scholar 

  • Bandelt H-J, Salas A, Lutz-Bonengel S (2004b) Artificial recombination in forensic mtDNA population databases. Int J Legal Med 118:267–273

    Article  CAS  Google Scholar 

  • Bandelt H-J, Yao Y-G, Kivisild T (2005c) Mitochondrial genes and schizophrenia. Schizophr Res 72:267–269

    Article  Google Scholar 

  • Brandstätter A, Sänger T, Lutz-Bonengel S, Parson W, Béraud-Colomb E, Wen B, Kong Q-P, Bravi CM, Bandelt H-J (2005) Phantom mutation hotspots in human mitochondrial DNA. Electrophoresis 26:3414–3429

    Article  PubMed  CAS  Google Scholar 

  • Brown MD, Sun F, Wallace DC (1997) Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 60:381–387

    Article  PubMed  CAS  Google Scholar 

  • Brown MD, Torroni A, Reckord CL, Wallace DC (1995) Phylogenetic analysis of Leber’s hereditary optic neuropathy mitochondrial DNA’s indicates multiple independent occurrences of the common mutations. Hum Mutat 6:311–325

    Article  PubMed  CAS  Google Scholar 

  • Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R, Sadun AA, Torroni A (2006) Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber Hereditary Optic Neuropathy pedigrees. Am J Hum Genet 78 (Jan 27, 2006, Epub ahead of print; http://www.ajhg.org/AJHG/journal/issues/v78n4/43264/43264.html)

  • Chen Y-S, Olckers A, Schurr TG, Kogelnik AM, Huoponen K, Wallace DC (2000) MtDNA variation in the South African Kung and Khwe-and their genetic relationships to other African populations. Am J Hum Genet 66:1362–1383

    Article  PubMed  CAS  Google Scholar 

  • Da Pozzo P, Cardaioli E, Radi E, Federico A (2004) Sequence analysis of the complete mitochondrial genome in patients with mitochondrial encephaloneuromyopathies lacking the common pathogenic DNA mutations. Biochem Biophys Res Commun 324:360–364

    Article  CAS  Google Scholar 

  • Da Pozzo P, Federico A (2005) Commentary to mitDNA research for the pathogenesis of mitochondrial disorders. Biochem Biophys Res Commun 336:1003–1004

    Article  CAS  Google Scholar 

  • Estivill X, Govea N, Barcelo E, Badenas C, Romero E, Moral L, Scozzari R, D’Urbano L, Zeviani M, Torroni A (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet 62:27–35

    Article  PubMed  CAS  Google Scholar 

  • Finnilä S, Lehtonen MS, Majamaa K (2001) Phylogenetic network for European mtDNA. Am J Hum Genet 68:1475–1484

    Article  PubMed  Google Scholar 

  • Forster P (2003) To err is human. Ann Hum Genet 67:2–4

    Article  PubMed  CAS  Google Scholar 

  • Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE, Howell N (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 70:1152–1171; erratum 71:448–449

    Google Scholar 

  • Howell N, Kubacka I, Halvorson S, Howell B, McCullough DA, Mackey D (1995) Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 140:285–302

    PubMed  CAS  Google Scholar 

  • Hutchin TP, Cortopassi GA (1997) Multiple origins of a mitochondrial mutation conferring deafness. Genetics 145:771–776

    PubMed  CAS  Google Scholar 

  • Imaizumi K, Parsons TJ, Yoshino M, Holland MM (2002) A new database of mitochondrial DNA hypervariable regions I and II sequences from 162 Japanese individuals. Int J Legal Med 116:68–73; erratum 119:183

    Google Scholar 

  • Ingman M, Kaessmann H, Pääbo S, Gyllensten U (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408:708–713

    Article  PubMed  CAS  Google Scholar 

  • Jin HJ, Kwak KD, Hong SB, Shin DJ, Han MS, Tyler-Smith C, Kim W (2005) Forensic genetic analysis of mitochondrial DNA hypervariable region I/II sequences: an expanded Korean population database. Forensic Sci Int (2005 Jun 28, Epub ahead of print; doi:10.1016/j.forsciint.2005.03.026)

  • Kivisild T, Shen P, Wall DP, Do B, Sung R, Davis K, Passarino G, Underhill PA, Scharfe C, Torroni A, Scozzari R, Modiano D, Coppa A, de Knijff P, Feldman M, Cavalli-Sforza LL, Oefner PJ (2006) The role of selection in the evolution of human mitochondrial genomes. Genetics 172:373–387

    Article  PubMed  CAS  Google Scholar 

  • Kivisild T, Tolk H-V, Parik J, Wang Y, Papiha SS, Bandelt H-J, Villems R (2002) The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19:1737–1751; erratum 20:162

    Google Scholar 

  • Kong Q-P, Yao Y-G, Liu M, Shen S-P, Chen C, Zhu C-L, Palanichamy MG, Zhang Y-P (2003a) Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Hum Genet 113:391–405

    Article  CAS  Google Scholar 

  • Kong Q-P, Yao Y-G, Sun C, Bandelt H-J, Zhu C-L, Zhang Y-P (2003b) Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73:671–676; erratum 75:157

    Google Scholar 

  • Kong Q-P, Yao Y-G, Sun C, Zhu C-L, Zhong L, Wang C-Y, Cai W-W, Xu X-M, Xu A-L, Zhang Y-P (2004) Phylogeographic analysis of mitochondrial DNA haplogroup F2 in China reveals T12338C in the initiation codon of the ND5 gene not to be pathogenic. J Hum Genet 49:414–423

    Article  PubMed  CAS  Google Scholar 

  • Lee HY, Yoo JE, Park MJ, Chung U, Shin KJ (2006) Mitochondrial DNA control region sequences in Koreans: identification of useful variable sites and phylogenetic analysis for mtDNA data quality control. Int J Legal Med 120:5–14

    Article  PubMed  Google Scholar 

  • Li R, Ishikawa K, Deng J-H, Heman-Ackah S, Tamagawa Y, Yang L, Bai Y, Ichimura K, Guan M-X (2005a) Maternally inherited nonsyndromic hearing loss is associated with the T7511C mutation in the mitochondrial tRNASerUCN gene in a Japanese family. Biochem Biophys Res Commun 328:32–37

    Article  CAS  Google Scholar 

  • Li R, Xing G, Yan M, Cao X, Liu X-Z, Bu X, Guan M-X (2004a) Cosegregation of C-insertion at position 961 with the A1555G mutation of the mitochondrial 12S rRNA gene in a large Chinese family with maternally inherited hearing loss. Am J Med Genet A 124:113–117

    Article  Google Scholar 

  • Li X, Fischel-Ghodsian N, Schwartz F, Yan Q, Friedman RA, Guan M-X (2004b) Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. Nucleic Acids Res 32:867–877

    Article  CAS  Google Scholar 

  • Li Z, Li R, Chen J, Liao Z, Zhu Y, Qian Y, Xiong S, Heman-Ackah S, Wu J, Choo DI, Guan M-X (2005b) Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. Hum Genet 117:9–15

    Article  CAS  Google Scholar 

  • Loogväli EL, Roostalu U, Malyarchuk BA, Derenko MV, Kivisild T, Metspalu E, Tambets K, Reidla M, Tolk H-V, Parik J, Pennarun E, Laos S, Lunkina A, Golubenko M, Barać L, Peričić M, Balanovsky OP, Gusar V, Khusnutdinova EK, Stepanov V, Puzyrev V, Rudan P, Balanovska EV, Grechanina E, Richard C, Moisan JP, Chaventré A, Anagnou NP, Pappa KI, Michalodimitrakis EN, Claustres M, Gölge M, Mikerezi I, Usanga E, Villems R (2004) Disuniting uniformity: a pied cladistic canvas of mtDNA haplogroup H in Eurasia. Mol Biol Evol 21:2012–2021

    Article  PubMed  CAS  Google Scholar 

  • Man PYW, Howell N, Mackey DA, Nørby S, Rosenberg T, Turnbull DM, Chinnery PF (2004) Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees. J Med Genet 41:e41

    Article  PubMed  CAS  Google Scholar 

  • McFarland R, Taylor RW, Elson JL, Lightowlers RN, Turnbull DM, Howell N (2004) Proving pathogenicity: when evolution is not enough. Am J Med Genet A 131:107–108

    Article  PubMed  CAS  Google Scholar 

  • Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM (2006) Sequence variation in mitochondrial complex I genes: mutation or polymorphism? J Med Genet 43:175–179

    Google Scholar 

  • Monson KL, Miller KWP, Wilson MR, DiZinno JA, Budowle B (2002) The mtDNA Population Database: an integrated software and database resource for forensic comparison. Forensic Sci Commun 4, no. 2. (http://www.fbi.gov/hq/lab/fsc/backissu/april2002/miller1.htm)

  • Neel JV (1962) Diabetes mellitus: a “thrifty” genotype rendered detrimental by “progress”? Am J Hum Genet 14:353–362

    PubMed  CAS  Google Scholar 

  • Palanichamy Mg, Sun C, Agrawal S, Bandelt H-J, Kong Q-P, Khan F, Wang C-Y, Chaudhuri TK, Palla V, Zhang Y-P (2004) Phylogeny of mitochondrial DNA macrohaplogroup N in India, based on complete sequencing: implications for the peopling of South Asia. Am J Hum Genet 75:966–978

    Article  PubMed  CAS  Google Scholar 

  • Qian Y, Zhou X, Hu Y, Tong Y, Li R, Lu F, Yang H, Mo JQ, Qu J, Guan M-X (2005) Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber’s hereditary optic neuropathy. Biochem Biophys Res Commun 332:614–621

    Article  PubMed  CAS  Google Scholar 

  • Qu J, Li R, Tong Y, Hu Y, Zhou X, Qian Y, Lu F, Guan M-X (2005) Only male matrilineal relatives with Leber’s hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation. Biochem Biophys Res Commun 328:1139–1145

    Article  PubMed  CAS  Google Scholar 

  • Rao L, Wu MY, Liang WB, Zhang L (2003) Sequence polymorphisms of the mitochondrial DNA control region in 105 Chinese Han population. J Forensic Sci 48:891–895

    PubMed  CAS  Google Scholar 

  • Richards M, Macaulay V, Torroni A, Bandelt H-J (2002) In search of geographical patterns in European mitochondrial DNA. Am J Hum Genet 71:1168–1174

    Article  PubMed  CAS  Google Scholar 

  • Rocha H, Flores C, Campos Y, Arenas J, Vilarinho L, Santorelli FM, Torroni A (1999) About the “pathological” role of the mtDNA T3308C mutation.... Am J Hum Genet 65:1457–1459

    Article  PubMed  CAS  Google Scholar 

  • Röhl A, Brinkmann B, Forster L, Forster P (2001) An annotated mtDNA database. Int J Legal Med 115:29–39

    Article  PubMed  Google Scholar 

  • Salas A, Carracedo Á, Macaulay V, Richards M, Bandelt H-J (2005a) A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. Biochem Biophys Res Commun 335:891–899

    Article  CAS  Google Scholar 

  • Salas A, Richards M, De la Fé T, Lareu MV, Sobrino B, Sánchez-Diz P, Macaulay V, Carracedo Á (2002) The making of the African mtDNA landscape. Am J Hum Genet 71:1082–1111; erratum (http://www.stats.gla.ac.uk/~vincent/bantu/errata.html)

    Google Scholar 

  • Salas A, Richards M, Lareu MV, Scozzari R, Coppa A, Torroni A, Macaulay V, Carracedo Á (2004) The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet 74:454–465

    Article  PubMed  CAS  Google Scholar 

  • Salas A, Yao Y-G, Macaulay V, Vega A, Carracedo Á, Bandelt H-J (2005b) A critical reassessment of the role of mitochondria in tumorigenesis. PloS Med 2:e296

    Article  CAS  Google Scholar 

  • Tanaka M, Cabrera VM, González AM, Larruga JM, Takeyasu T, Fuku N, Guo LJ, Hirose R, Fujita Y, Kurata M, Shinoda K, Umetsu K, Yamada Y, Oshida Y, Sato Y, Hattori N, Mizuno Y, Arai Y, Hirose N, Ohta S, Ogawa O, Tanaka Y, Kawamori R, Shamoto-Nagai M, Maruyama W, Shimokata H, Suzuki R, Shimodaira H (2004) Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14:1832–1850

    Article  PubMed  CAS  Google Scholar 

  • Tessa A, Giannotti A, Tieri L, Vilarinho L, Marotta G, Santorelli FM (2001) Maternally inherited deafness associated with a T1095C mutation in the mDNA. Eur J Hum Genet 9:147–149

    Article  PubMed  CAS  Google Scholar 

  • Thyagarajan D, Bressman S, Bruno C, Przedborski S, Shanske S, Lynch T, Fahn S, DiMauro S (2000) A novel mitochondrial 12SrRNA point mutation in Parkinsonism, deafness, and neuropathy. Ann Neurol 48:730–736

    Article  PubMed  CAS  Google Scholar 

  • Torroni A, Cruciani F, Rengo C, Sellitto D, López-Bigas N, Rabionet R, Govea N, López De Munain A, Sarduy M, Romero L, Villamar M, del Castillo I, Moreno F, Estivill X, Scozzari R (1999) The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. Am J Hum Genet 65:1349–1358

    Article  PubMed  CAS  Google Scholar 

  • Torroni A, Petrozzi M, D’Urbano L, Sellitto D, Zeviani M, Carrara F, Carducci C, Leuzzi V, Carelli V, Barboni P, De Negri A, Scozzari R (1997) Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet 60:1107–1121

    PubMed  CAS  Google Scholar 

  • Wang Q, Li R, Zhao H, Peters JL, Liu Q, Yang L, Han D, Greinwald JH Jr., Young W-Y, Guan M-X (2005) Clinical and molecular characterization of a Chinese patient with auditory neuropathy associated with mitochondrial 12S rRNA T1095C mutation. Am J Med Genet A 133:27–30

    Google Scholar 

  • Yao Y-G, Bravi CM, Bandelt H-J (2004a) A call for mtDNA data quality control in forensic science. Forensic Sci Int 141:1–6

    Article  CAS  Google Scholar 

  • Yao Y-G, Kong Q-P, Bandelt H-J, Kivisild T, Zhang Y-P (2002a) Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70:635–651

    Article  CAS  Google Scholar 

  • Yao Y-G, Kong Q-P, Man X-Y, Bandelt H-J, Zhang Y-P (2003a) Reconstructing the evolutionary history of China: a caveat about inferences drawn from ancient DNA. Mol Biol Evol 20:214–219

    Article  CAS  Google Scholar 

  • Yao Y-G, Kong Q-P, Wang C-Y, Zhu C-L, Zhang Y-P (2004b) Different matrilineal contributions to genetic structure of ethnic groups in the silk road region in china. Mol Biol Evol 21:2265–2280

    Article  CAS  Google Scholar 

  • Yao Y-G, Kong Q-P, Zhang Y-P (2002b) Mitochondrial DNA 5178A polymorphism and longevity. Hum Genet 111:462–463

    Article  Google Scholar 

  • Yao Y-G, Macaulay V, Kivisild T, Zhang Y-P, Bandelt H-J (2003b) To trust or not to trust an idiosyncratic mitochondrial data set. Am J Hum Genet 72:1341–1346; 1348–1349

    Google Scholar 

  • Yao Y-G, Zhang Y-P (2003) Pitfalls in the analysis of ancient human mtDNA. Chinese Sci Bull 48:826–830

    Article  CAS  Google Scholar 

  • Young W-Y, Zhao L, Qian Y, Wang Q, Li N, Greinwald JH Jr, Guan M-X (2005) Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation. Biochem Biophys Res Commun 328:1244–1251

    Article  PubMed  CAS  Google Scholar 

  • Yuan H, Qian Y, Xu Y, Cao J, Bai L, Shen W, Ji F, Zhang X, Kang D, Mo JQ, Greinwald JH, Han D, Zhai S, Young W-Y, Guan M-X (2005) Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Am J Med Genet A 138A:133–140

    Article  PubMed  Google Scholar 

  • Zhang Y, Xu Q, Cui H, Cui Y, Lin H, Kim K, Lee J (2005) Haplotype diversity in mitochondrial DNA hypervariable region I, II and III in a Korean ethnic group from northeast China. Forensic Sci Int 151:299–301

    Article  PubMed  CAS  Google Scholar 

  • Zhao H, Li R, Wang Q, Yan Q, Deng J-H, Han D, Bai Y, Young W-Y, Guan M-X (2004a) Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 74:139–152

    Article  CAS  Google Scholar 

  • Zhao L, Wang Q, Qian Y, Li R, Cao J, Hart LC, Zhai S, Han D, Young W-Y, Guan M-X (2005) Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss. Biochem Biophys Res Commun 336:967–973

    Article  PubMed  CAS  Google Scholar 

  • Zhao L, Young W-Y, Li R, Wang Q, Qian Y, Guan M-X (2004b) Clinical evaluation and sequence analysis of the complete mitochondrial genome of three Chinese patients with hearing impairment associated with the 12S rRNA T1095C mutation. Biochem Biophys Res Commun 325:1503–1508

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Yong-Gang Yao.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Yao, YG., Salas, A., Bravi, C.M. et al. A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet 119, 505–515 (2006). https://doi.org/10.1007/s00439-006-0154-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00439-006-0154-9

Keywords

Navigation