Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts

G. Tully; S. M. Barritt; K. Bender; E. Brignon; C. Capelli; N. Dimo-Simonin; C. Eichmann; C. M. Ernst; C. Lambert; M. V. Lareu; B. Ludes; B. Mevag; W. Parson; H. Pfeiffer; A. Salas; P. M. Schneider; E. Staalstrom

doi:10.1016/S0379-0738(03)00181-6

Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts

G. Tully^*, S. M. Barritt, K. Bender, E. Brignon, C. Capelli, N. Dimo-Simonin, C. Eichmann, C. M. Ernst, C. Lambert, M. V. Lareu, B. Ludes, B. Mevag, W. Parson, H. Pfeiffer, A. Salas, P. M. Schneider, E. Staalstrom

^*Corresponding author for this work

Analytical, Environmental & Forensic Sciences

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Abstract

A collaborative exercise was carried out by the European DNA Profiling Group (EDNAP) in order to evaluate the distribution of mitochondrial DNA (mtDNA) heteroplasmy amongst the hairs of an individual who displays point heteroplasmy in blood and buccal cells. A second aim of the exercise was to study reproducibility of mtDNA sequencing of hairs between laboratories using differing chemistries, further to the first mtDNA reproducibility study carried out by the EDNAP group [Forensic Sci. Int. 97 (1998) 165]. Laboratories were asked to type 2 sections from each of 10 hairs, such that each hair was typed by at least two laboratories. Ten laboratories participated in the study, and a total of 55 hairs were typed. The results showed that the C/T point heteroplasmy observed in blood and buccal cells at position 16234 segregated differentially between hairs, such that some hairs showed only C, others only T and the remainder, C/T heteroplasmy at varying ratios. Additionally, differential segregation of heteroplasmic variants was confirmed in independent extracts at positions 16093 and the poly(C) tract at 302-309, whilst a complete A-G transition was confirmed at position 16129 in one hair. Heteroplasmy was observed at position 16195 on both strands of a single extract from one hair segment, but was not observed in the extracts from any other segment of the same hair. Similarly, heteroplasmy at position 16304 was observed on both strands of a single extract from one hair. Additional variants at positions 73, 249 and the HVII poly(C) region were reported by one laboratory; as these were not confirmed in independent extracts, the possibility of contamination cannot be excluded. Additionally, the electrophoresis and detection equipment used by this laboratory was different to those of the other laboratories, and the discrepancies at position 249 and the HVII poly(C) region appear to be due to reading errors that may be associated with this technology. The results, and their implications for forensic mtDNA typing, are discussed in the light of the biology of hair formation.

Original language	English
Pages (from-to)	1-11
Number of pages	11
Journal	Forensic Science International
Volume	140
Issue number	1
DOIs	https://doi.org/10.1016/S0379-0738(03)00181-6
Publication status	Published - 10 Feb 2004

Keywords

Hair
Heteroplasmy
Mitochondrial DNA
Mutation
Segregation

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10.1016/S0379-0738(03)00181-6

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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., & Staalstrom, E. (2004). Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts. Forensic Science International, 140(1), 1-11. https://doi.org/10.1016/S0379-0738(03)00181-6

@article{a3800f68011048bdb2ef841a02378b76,

title = "Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts",

abstract = "A collaborative exercise was carried out by the European DNA Profiling Group (EDNAP) in order to evaluate the distribution of mitochondrial DNA (mtDNA) heteroplasmy amongst the hairs of an individual who displays point heteroplasmy in blood and buccal cells. A second aim of the exercise was to study reproducibility of mtDNA sequencing of hairs between laboratories using differing chemistries, further to the first mtDNA reproducibility study carried out by the EDNAP group [Forensic Sci. Int. 97 (1998) 165]. Laboratories were asked to type 2 sections from each of 10 hairs, such that each hair was typed by at least two laboratories. Ten laboratories participated in the study, and a total of 55 hairs were typed. The results showed that the C/T point heteroplasmy observed in blood and buccal cells at position 16234 segregated differentially between hairs, such that some hairs showed only C, others only T and the remainder, C/T heteroplasmy at varying ratios. Additionally, differential segregation of heteroplasmic variants was confirmed in independent extracts at positions 16093 and the poly(C) tract at 302-309, whilst a complete A-G transition was confirmed at position 16129 in one hair. Heteroplasmy was observed at position 16195 on both strands of a single extract from one hair segment, but was not observed in the extracts from any other segment of the same hair. Similarly, heteroplasmy at position 16304 was observed on both strands of a single extract from one hair. Additional variants at positions 73, 249 and the HVII poly(C) region were reported by one laboratory; as these were not confirmed in independent extracts, the possibility of contamination cannot be excluded. Additionally, the electrophoresis and detection equipment used by this laboratory was different to those of the other laboratories, and the discrepancies at position 249 and the HVII poly(C) region appear to be due to reading errors that may be associated with this technology. The results, and their implications for forensic mtDNA typing, are discussed in the light of the biology of hair formation.",

keywords = "Hair, Heteroplasmy, Mitochondrial DNA, Mutation, Segregation",

author = "G. Tully and Barritt, {S. M.} and K. Bender and E. Brignon and C. Capelli and N. Dimo-Simonin and C. Eichmann and Ernst, {C. M.} and C. Lambert and Lareu, {M. V.} and B. Ludes and B. Mevag and W. Parson and H. Pfeiffer and A. Salas and Schneider, {P. M.} and E. Staalstrom",

year = "2004",

month = feb,

day = "10",

doi = "10.1016/S0379-0738(03)00181-6",

language = "English",

volume = "140",

pages = "1--11",

journal = "Forensic Science International",

issn = "0379-0738",

publisher = "Elsevier Ireland Ltd",

number = "1",

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Tully, G, Barritt, SM, Bender, K, Brignon, E, Capelli, C, Dimo-Simonin, N, Eichmann, C, Ernst, CM, Lambert, C, Lareu, MV, Ludes, B, Mevag, B, Parson, W, Pfeiffer, H, Salas, A, Schneider, PM & Staalstrom, E 2004, 'Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts', Forensic Science International, vol. 140, no. 1, pp. 1-11. https://doi.org/10.1016/S0379-0738(03)00181-6

TY - JOUR

T1 - Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts

AU - Tully, G.

AU - Barritt, S. M.

AU - Bender, K.

AU - Brignon, E.

AU - Capelli, C.

AU - Dimo-Simonin, N.

AU - Eichmann, C.

AU - Ernst, C. M.

AU - Lambert, C.

AU - Lareu, M. V.

AU - Ludes, B.

AU - Mevag, B.

AU - Parson, W.

AU - Pfeiffer, H.

AU - Salas, A.

AU - Schneider, P. M.

AU - Staalstrom, E.

PY - 2004/2/10

Y1 - 2004/2/10

N2 - A collaborative exercise was carried out by the European DNA Profiling Group (EDNAP) in order to evaluate the distribution of mitochondrial DNA (mtDNA) heteroplasmy amongst the hairs of an individual who displays point heteroplasmy in blood and buccal cells. A second aim of the exercise was to study reproducibility of mtDNA sequencing of hairs between laboratories using differing chemistries, further to the first mtDNA reproducibility study carried out by the EDNAP group [Forensic Sci. Int. 97 (1998) 165]. Laboratories were asked to type 2 sections from each of 10 hairs, such that each hair was typed by at least two laboratories. Ten laboratories participated in the study, and a total of 55 hairs were typed. The results showed that the C/T point heteroplasmy observed in blood and buccal cells at position 16234 segregated differentially between hairs, such that some hairs showed only C, others only T and the remainder, C/T heteroplasmy at varying ratios. Additionally, differential segregation of heteroplasmic variants was confirmed in independent extracts at positions 16093 and the poly(C) tract at 302-309, whilst a complete A-G transition was confirmed at position 16129 in one hair. Heteroplasmy was observed at position 16195 on both strands of a single extract from one hair segment, but was not observed in the extracts from any other segment of the same hair. Similarly, heteroplasmy at position 16304 was observed on both strands of a single extract from one hair. Additional variants at positions 73, 249 and the HVII poly(C) region were reported by one laboratory; as these were not confirmed in independent extracts, the possibility of contamination cannot be excluded. Additionally, the electrophoresis and detection equipment used by this laboratory was different to those of the other laboratories, and the discrepancies at position 249 and the HVII poly(C) region appear to be due to reading errors that may be associated with this technology. The results, and their implications for forensic mtDNA typing, are discussed in the light of the biology of hair formation.

AB - A collaborative exercise was carried out by the European DNA Profiling Group (EDNAP) in order to evaluate the distribution of mitochondrial DNA (mtDNA) heteroplasmy amongst the hairs of an individual who displays point heteroplasmy in blood and buccal cells. A second aim of the exercise was to study reproducibility of mtDNA sequencing of hairs between laboratories using differing chemistries, further to the first mtDNA reproducibility study carried out by the EDNAP group [Forensic Sci. Int. 97 (1998) 165]. Laboratories were asked to type 2 sections from each of 10 hairs, such that each hair was typed by at least two laboratories. Ten laboratories participated in the study, and a total of 55 hairs were typed. The results showed that the C/T point heteroplasmy observed in blood and buccal cells at position 16234 segregated differentially between hairs, such that some hairs showed only C, others only T and the remainder, C/T heteroplasmy at varying ratios. Additionally, differential segregation of heteroplasmic variants was confirmed in independent extracts at positions 16093 and the poly(C) tract at 302-309, whilst a complete A-G transition was confirmed at position 16129 in one hair. Heteroplasmy was observed at position 16195 on both strands of a single extract from one hair segment, but was not observed in the extracts from any other segment of the same hair. Similarly, heteroplasmy at position 16304 was observed on both strands of a single extract from one hair. Additional variants at positions 73, 249 and the HVII poly(C) region were reported by one laboratory; as these were not confirmed in independent extracts, the possibility of contamination cannot be excluded. Additionally, the electrophoresis and detection equipment used by this laboratory was different to those of the other laboratories, and the discrepancies at position 249 and the HVII poly(C) region appear to be due to reading errors that may be associated with this technology. The results, and their implications for forensic mtDNA typing, are discussed in the light of the biology of hair formation.

KW - Hair

KW - Heteroplasmy

KW - Mitochondrial DNA

KW - Mutation

KW - Segregation

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U2 - 10.1016/S0379-0738(03)00181-6

DO - 10.1016/S0379-0738(03)00181-6

M3 - Article

C2 - 15013160

AN - SCOPUS:10744223541

SN - 0379-0738

VL - 140

SP - 1

EP - 11

JO - Forensic Science International

JF - Forensic Science International

IS - 1

ER -

Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts

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Keywords

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