Heteroplasmy in hair: Differences among hair and blood from the same individuals are still a matter of debate

Forensic Science International

Volumn 173, Issue 2-3, 2007, Pages 117-121

  Paneto, Greiciane G ^a   Martins, Joyce A ^a   Longo, Larissa V G ^a   Pereira, Gabriella A ^a   Freschi, Adriana ^a   Alvarenga, Vera L S ^a   Chen, Bety ^b   Oliveira, Rogério N ^b   Hirata, Mário H ^b   Cicarelli, Regina M B ^a  

^a SÃO PAULO STATE UNIVERSITY UNESP   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Blood; Hair shafts; Hypervariable regions; Mitochondrial DNA; Point heteroplasmy

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; DNA DEGRADATION; DNA FINGERPRINTING; DNA SEQUENCE; FORENSIC SCIENCE; GENE CONTROL; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HAIR ANALYSIS; HETEROPLASMY; HUMAN; HUMAN EXPERIMENT; HUMAN TISSUE; NORMAL HUMAN; PRIORITY JOURNAL; PROTEIN VARIANT; SHORT TANDEM REPEAT;

EID: 35348990311     PISSN: 03790738     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.forsciint.2007.02.011     Document Type: Article

References (35)

1. Salas A., Lareu M.V., and Carracedo A. Heteroplasmy in mtDNA and the weight of evidence in forensic mtDNA analysis: a case report. Int. J. Legal Med. 114 (2001) 186-190
2. Bai R.-K., and Wong L.-J.C. Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Clin. Chem. 50 (2004) 996-1001
3. Calloway C.D., Reynolds R.L., Herrin Jr. G.L., and Anderson W.W. The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age. Am. J. Hum. Genet. 66 (2000) 1384-1397
4. Lee H.Y., Chung U., Park M.J., Yoo J.E., Han G.R., and Shin K.J. Differential distribution of human mitochondrial DNA in somatic tissues and hairs. Ann. Hum. Genet. 70 (2006) 59-65
5. Wang Q., and Boles R.G. Individual human hair mitochondrial DNA control region heteroplasmy proportions in mothers and children. Mitochondrion 6 (2006) 37-42
6. Pai C.Y., Hsieh L.L., Lee T.C., Yang S.B., Linville J., Chou S.L., and Yang C.H. Mitochondrial DNA sequence alterations observed between blood and buccal cells within the same individuals having betel quid (BQ)-chewing habit. Forensic Sci. Int. 156 (2006) 124-130
7. Tully G., Barritt S.M., Bender K., Brignon E., Capelli C., Dimo-Simonin N., Eichmann C., Ernst C.M., Lambert C., Lareu M.V., Ludes B., Mevag B., Parson W., Pfeiffer H., Salas A., Schneider P.M., and Staalstrom E. Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts. Forensic Sci. Int. 140 (2004) 1-11
8. Linch C.A., Whiting D.A., and Holland M.M. Human hair histogenesis for the mitochondrial DNA forensic scientist. J. Forensic Sci. 46 (2001) 844-853
9. Stewart J.E., Fisher C.L., Aagaard P.J., Wilson M.R., Isenberg A.R., Polanskey D., Pokorak E., Dizinno J.A., and Budowle B. Length variation in HV2 of the human mitochondrial DNA control region. J. Forensic Sci. 46 (2001) 862-870
10. Ivanov P.L., Wadhams M.J., Roby R.K., Holland M.M., Weedn V.W., and Parsons T.J. Mitochondrial DNA sequence heteroplasmy in the Grand Duke of Russia Georgij Romanov establishes the authenticity of the remains of Tsar Nicholas II. Nat. Genet. 12 (1996) 417-420
11. Holland M.M., and Parsons T.J. Mitochondrial DNA sequence analysis-validation and use for forensic casework. Forensic Sci. Rev. 11 (1999) 22-50
12. Budowle B., Allard M., Wilson M.R., and Chakraborty R. Forensics and mitochondrial DNA: applications, debates, and foundations. Annu. Rev. Genom. Human Genet. V. 4 (2003) 119-141
13. Salas A., Bandelt H.-J., Macaulay V., and Richards M.B. Phylogeographic investigations: The role of trees in forensic genetics. Forensic Sci. Int. 168 (2007) 1-13
14. Sullivan K.M., Alliston-Greiner R., Archampong F.I.A., Piercy R., Tully G., Gill P., and Lloyd-Davies C. Proceedings of the Seventh International Symposium on Human Identification. Promega, Madison. A single difference in mtDNA control region sequence observed between hair shaft and reference sample from a single donor (1996) 126-130
15. Pfeiffer H., Huhne J., Ortmann C., Waterkamp K., and Brinkmann B. Mitochondrial DNA typing from human axillary, pubic and head hair shafts-success rate and sequence comparisons. Int. J. Legal Med. 112 (1999) 287-290
16. Huhne J., Pfeiffer H., Waterkamp K., and Brinkmann W. Mitochondrial DNA in human hair shafts-existence of intra-individual differences?. Int. J. Legal Med. 112 (1999) 172-175
17. Sekiguchi K., Sato H., and Kasai K. Mitochondrial DNA heteroplasmy among hairs from single individuals. J. Forensic Sci. 49 (2004) 986-991
18. Melton T., Dimick G., Higgins B., Lindstrom L., and Nelson K. Forensic mitochondrial DNA analysis of 691 casework hairs. J. Forensic Sci. 50 (2005) 1-8
19. White H.E., Durston V.J., Seller A., Fratter C., Harvey J.F., and Cross N.C.P. Accurate detection and quantitation of heteroplasmic mitochondrial point mutations by pyrosequencing. Genet. Test. 9 3 (2005) 190-199
20. van Den Bosch B.J., Coo R.F., Sholte H.R., Nijland J.G., Bogaard R., Visser M., Die-Smulders C.E., and Smeets H.J. Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography. Nucl. Acids Res. 28 (2000) E89
21. Niederstatter H., Coble M.D., Grubwieser P., Parsons T.J., and Parson W. Characterization of mtDNA SNP typing and mixture ratio assessment with simultaneous real-time PCR quantification of both allelic states. Int. J. Leg. Med. Online First Issue (2005)
22. Jehaes E., Gilissen A., Cassiman J.J., and Decorte R. Evaluation of a decontamination protocol for hair shafts before mtDNA sequencing. Forensic Sci. Int. 94 (1998) 65-71
23. Hall T, BioEdit. Biological sequence alignment editor for Windows, North Carolina State University, NC, USA; 1998. http://www.mbio.ncsu.edu/BioEdit/bioedit.html
24. MITOMAP: a Human Mitochondrial Genome Database, 2006. [http://www.mitomap.org].
25. Tully L.A., Parsons T.J., Steighner R.J., Holland M.M., Marino M.A., and Prenger V.L. A sensitive denaturing gradient-gel electrophoresis assay reveals a high frequency of heteroplasmy in hypervariable region 1 of the human mtDNA control region. Am. J. Hum. Genet. 67 (2000) 432-443
26. Howell N., and Smejkal C.B. Persistent heteroplasmy of a mutation in the human mtDNA control region: hypermutation as an apparent consequence of simple-repeat expansion/contraction. Am. J. Hum. Genet. 66 (2000) 1589-1598
27. Meyer S., Weiss G., and von Haeseler A. Pattern of nucleotide substitution and rate heterogeneity in the hypervariable regions I and II of human mtDNA. Genetics 150 (1999) 1103-1110
28. Excoffier L., and Yang Z. Substitution rate variation among sites in mitochondrial hypervariable region I of humans and chimpanzees. Mol. Biol. Evol. 16 (1999) 1357-1368
29. Hancock D.K., Tully L.A., and Levin B. A standard reference material to determine the sensitivity of techniques for detecting low-frequency mutations, SNPs, and heteroplasmies in mitochondrial DNA. Genomics 86 (2005) 446-461
30. Huhne J., Pfeiffer H., Waterkamp K., and Brinkman B. Mitochondrial DNA in human hair shafts-existence of intra-individual differences?. Int. J. Legal Med. 112 (1999) 172-175
31. Pfeiffer H., Lutz-Bonengel S., Pollak S., Fimmers R., Baur M.P., and Brinkmann B. Mitochondrial DNA control region difersity in hairs and body fluids of monozygotic triplets. Int. J. Legal Med. 118 (2004) 71-74
32. Sekiguchi K., Kasai K., and Levin B.C. Inter-and intragenerational transmission of a human mitochondrial DNA heteroplasmy among 13 maternally-related individuals and differences between and within tissues in two family members. Mitochondrion 2 (2003) 401-414
33. Alonso A., Salas A., Albarrán C., Arroyo E., Castro A., Crespilo M., di Lonardo A.M., Lareu M.V., Cubria C.L., Soto M.L., Lorente J.A., Semper M.M., Palacio A., Paredes M., Pereira L., Lezaun A.P., Brito J.P., Sala A., Vide M.C., Whittle M., Yunis J.J., and Gomes J. Results of the 1999-2000 collaborative exercise and proficiency testing program on mitochondrial DNA of the GEP-ISFG: an inter-laboratory study of the observed variability in the heteroplasmy level of hair from the same donor. Forensic Sci. Int. 125 (2002) 1-7
34. Tully G., Bar W., Brinkmann B., Carracedo A., Gill P., Morling N., Parson W., and Schneider P. Considerations by the European DNA profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles. Forensic Sci. Int. 124 (2001) 83-91
35. Carracedo A., Bar W., Lincoln P., Mayr W., Morling N., Olaisen B., Schneider P., Budowle B., Brinkmann B., Gill P., Holland M., Tully G., and Wilson M. DNA commission of the international society for forensic genetics: guidelines for mitochondrial DNA typing. Forensic Sci. Int. 110 (2000) 79-85