Vous êtes sur la page 1sur 6

Forensic Science International: Genetics 1 (2007) e4e9

www.elsevier.com/locate/fsig

Announcement of population data

Mitochondrial DNA control region population data from Macedonia


Bettina Zimmermann a, Anita Brandstatter a, Nina Duftner a,b,c, Daniela Niederwieser a,
Mirko Spiroski d, Todor Arsov d, Walther Parson a,*
a

Institute of Legal Medicine, Innsbruck Medical University, Mullerstrasse 44, A-6020 Innsbruck, Austria
b
FAS Center for Systems Biology, Harvard University, Cambridge, MA, USA
c
Section of Integrative Biology, University of Texas, 1 University Station, Austin, TX, USA
d
Institute of Immunobiology and Human Genetics, Faculty of Medicine, Skopje, Macedonia
Received 14 February 2007; accepted 18 March 2007

Abstract
Mitochondrial DNA sequences of the entire control region were analyzed in 200 unrelated individuals from Macedonia. A total of 163 different
haplotypes were found as determined by 177 polymorphic sites. The probability of a random match was calculated as 1:121 (0.83%). The basic
phylogenetic structure of the Macedonian population as derived from its haplogroup distribution is in agreement with other West-Eurasian
populations. Upon publication, the population data are going to be available in the EMPOP database (www.empop.org) [W. Parson, A. Dur,
EMPOPa forensic mtDNA database, FSI:Genetics 1 (2) (2007) 8892; W. Parson, A. Brandstatter, A. Alonso, N. Brandt, B. Brinkmann, A.
Carracedo, et al., The EDNAP mitochondrial DNA population database (EMPOP) collaborative exercises: organisation, results and perspectives,
Forensic Sci. Int. 139 (23) (2004) 215226.].
# 2007 Elsevier Ireland Ltd. All rights reserved.
Keywords: Macedonia; Population data; Entire control region; mtDNA polymorphism; Haplotypes

Population: Blood samples were obtained from 200 healthy


unrelated male and female volunteers of Macedonian origin,
nationality and linguistic affiliation. Individuals are of
Christian Orthodox religion, were born in and are residents
of different geographical regions of the Republic of Macedonia.
In addition to the birth place of the samples, the names and birth
places of mothers, fathers, grandmothers and grandfathers of all
samples (if known by the sample donor) were recorded.
Samples were stored in the Macedonian Human DNA Bank
(www.hdnamkd.org.mk) [3].
DNA extraction: Genomic DNA was isolated from
peripheral blood leukocytes by the phenolchloroform extraction method [4].
Amplification and sequencing of mtDNA entire control
region: PCR amplification and sequencing reactions were
performed as reported in Ref. [5].
Analysis of data: Sequence alignment and evaluation were
performed twice by two independent scientists using the
sequence analysis software SeqScape (Version 2.0, AB).

* Corresponding author. Tel.: +43 512 9003 70640; fax: +43 512 9003 73640.
E-mail address: walther.parson@i-med.ac.at (W. Parson).
1872-4973/$ see front matter # 2007 Elsevier Ireland Ltd. All rights reserved.
doi:10.1016/j.fsigen.2007.03.002

Consensus sequences were aligned and compared to the


revised Cambridge Reference Sequence (rCRS [6,7]).
Observed sequence variants were notated following nomenclature guidelines for mtDNA typing [810]. Macedonian
mtDNA haplotypes were affiliated to (sub)-haplogroups based
on patterns of shared haplogroup-specific or haplogroupassociated polymorphisms in the control region, as reported in
Refs. [1116]. When samples could not unambiguously be
assigned to a particular haplogroup, the analysis of 16
diagnostic mtDNA coding region SNPs [17] allowed us to
classify the major haplogroup status. The random match
probability was calculated as the sum of the squares of the
haplotype frequencies [18]. Genetic diversity indices were
calculated using the ARLEQUIN software (Version 3.1) [19].
C-Stretch length variants in HSV-I, HSV-II and HSV-III were
ignored for calculating random match probabilities and genetic
diversity indices.
Results: The polymorphic sites observed from sequencing of
the entire control region are presented as haplotype data in
Table 1. The probability of a random match (RMP) between two
unrelated individuals from this Macedonian dataset (n = 200)
was calculated 1:121 or 0.83% for the entire control region (when
taking C-stretch length variants into consideration, the observed

B. Zimmermann et al. / Forensic Science International: Genetics 1 (2007) e4e9


Table 1
Control region sequences in Macedonia
Hga

Sample

Profile

B4?
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*
H*

MC2F10
MC1A5
MC1A9
MC1B2
MC1B3
MC1B6
MC1B7
MC1B10
MC1B11
MC1B12
MC1C2
MC1C4
MC1C5
MC1C8
MC1C9
MC1C12
MC1D3
MC1D10
MC1D11
MC1D12
MC1E1
MC1E3
MC1E4
MC1E5
MC1F1
MC1F12
MC1G4
MC1G9
MC1H2
MC1H4
MC1H5
MC1H7
MC1H11
MC1H12
MC2A10
MC2A11
MC2B4
MC2B8
MC2B9
MC2B12
MC2C3
MC2D1
MC2D4
MC2D7
MC2D11
MC2E12
MC2F3
MC2G1
MC2G2
MC2G5
MC2G6
MC2G7
MC2G9
MC2G11
MC2G12
MC2H1
MC2H5
MC2H12
MC3A3
MC3B1
MC3C2
MC3F1
MC3G1
MC3G2

16086C-16172C-16187T-16189C-16217C-16223T-73G-146C-210G-263G-315.1C-315.2C-534T-571
16189C-16519C-146C-153G-195Y-204C-263G-309.1C-309.2C-315.1C
16519C-263G-309.1C-315.1C
16519C-146C-263G-309.1C-309.2C-315.1C
16519C-263G-309.1C-309.2C-315.1C
16519C-73G-263G-315.1C-573.1C-573.2C
16114Y-16344T-16519C-263G-309.1C-315.1C-513A
16244A-16399G-207A-263G-315.1C
16519C-152C-263G-315.1C
16261T-16311C-16519C-263G-315.1C-523DEL-524DEL
16519C-263G-309.1C-315.1C
16519C-263G-309.1C-315.1C
16311C-16519C-263G-309.1C-309.2C-315.1C
16519C-186A-263G-309.1C-315.1C
16092C-16293G-16311C-152C-195C-263G-315.1C
16519C-263G-315.1C
16129A-16270T-16519C-263G-315.1C-481T
16293C-262T-263G-309.1C-309.2C-315.1C
16092C-16293G-16311C-152C-195C-263G-315.1C
16147T-16519C-195C-263G-315.1C-523DEL-524DEL
16298C-16519C-185A-235G-263G-309.1C-315.1C
16114T-16344T-16519C-263G-309.1C-309.2C-315.1C-513A
55C-56.1A-263G-309.1C-309.2C-315.1C
16176T-16182C-16183C-16189C-16519C-263G-309.1C-309.2C-309.3C-315.1C
16362C-16519C-263G-315.1C
16189C-16519C-146C-153G-263G-309.1C-315.1C
16189C-16519C-153G-263G-309.1C-309.2C-315.1C
16519C-152C-215G-263G-309.1C-309.2C-315.1C
263G-309.1C-309.2C-315.1C
16189C-16193.1C-16193.2C-16519C-146C-153G-195Y-204C-263G-309.1C-309.2C-315.1C
16311C-263G-315.1C
16298C-16519C-263G-309.1C-315.1C
16259T-16519C-263G-309.1C-309.2C-315.1C-316A
16189C-16519C-204C-263G-309.1C-309.2C-315.1C
16519C-146C-263G-315.1C
16293G-16311C-195C-263G-309.1C-315.1C
16519C-143A-263G-315.1C-453C
16319 A-263 G-315.1 C-523DEL-524DEL
73G-263G-315.1C-523DEL-524DEL
16244A-16399G-207A-263G-315.1C
263 G-315.1C-523DEL-524DEL
16070G-152C-263G-315.1C-456T-513A
16189C-16519C-146C-153R-263G-309.1C-309.2C-315.1C
16311C-16519C-263G-315.1C-523DEL-524DEL
16093Y-16311C-16519C-152C-263G-315.1C
16311C-263G-315.1C
16129A-16291T-16519C-16527T-152C-263G-309.1C-309.2C-315.1C-437T
16092C-16293G-16311C-146C-195C-204Y-263G-315.1C
16519C-152C-263G-295T-309.1C-309.2C-315.1C
16519C-263G-315.1 C-523DEL-524DEL
16278T-16293G-16311C-195C-263G-315.1C
16182C-16183C-16189C-16519C-263G-309.1C-309.2C-315.1C
16519C-146C-263G-315.1C
16092C-16293G-16311C-152C-195C-263G-315.1C
16311C-16519C-195C-263G-309.1C-315.1C
16189C-16519C-153G-263G-309.1C-315.1C
16093C-16311C-16519C-152C-263G-315.1C
263G-315.1C
16124Y-16189C-16519C-263G-315.1C-523DEL-524DEL
16217Y-16519C-263G-309.1C-309.2C-315.1C-453C
263G-309.1C-315.1C
16519C-263G-309.1C-309.2C-315.1C
263G-315.1C-523DEL-524DEL
16311C-16390A-16519C-195C-263G-309.1C-315.1C

e5

e6

B. Zimmermann et al. / Forensic Science International: Genetics 1 (2007) e4e9

Table 1 (Continued )
Hg a

Sample

Profile

H*
H12
H12
H12
H12
H12
H12
H1b
H1b
H1b
H2a1
H2a1
H5
H5
H5
H5
H5
H5
H5
H5
H5
H5
H5
H6
H6
H6
H9
HV0
HV0
HV0
HV0
HV0
HV0
HV0
HV0
HV0
I
I
I1a

MC1E11
MC1D9
MC1F2
MC1G11
MC2E1
MC2E11
MC2G4
MC1D5
MC2B10
MC2C7
MC1A3
MC1E2
MC1E10
MC1B1
MC1E8
MC1F4
MC1F6
MC1G12
MC1H6
MC2C2
MC2E4
MC2G3
MC2H6
MC1F5
MC2A3
MC2A4
MC1G1
MC1B8
MC2C1
MC2C6
MC2C12
MC2D5
MC2E7
MC2F9
MC2H2
MC3H1
MC2F4
MC3A2
MC1D4

J1
J1
J1b1
J1b1
J1b1
J1c
J1c
J1c
J1c
J1c
J1c
J1c
J1c
J2
J2b
K
K
K
K1a
K1a
K1a
K1a
K1a
K1a
K1c

MC1H1
MC2D2
MC1A2
MC1F9
MC3E1
MCI A11
MC1C3
MC1D6
MC1D7
MC2B5
MC2B7
MC2C5
MC2F12
MC3D2
MC1C6
MC1C1
MC1F7
MC2C9
MC1D8
MC2A12
MC2F1
MC2F5
MC2F11
MC2G10
MC2C8

16148T-16256T-16319A-152C-189G-193G-249G-309.1C-315.1C
16287T-16519C-195C-263G-315.1C
16287T-16519C-195C-263G-315.1C
16287T-16519C-195C-263G-315.1C
16287T-16519C-195C-263G-315.1C
16287T-16519C-195C-263G-315.1C
16287T-16519C-195C-263G-315.1C
16189C-16356C-16519C-263G-309.1C-309.2C-315.1C
16189C-16324C-16356C-16519C-152C-263G-315.1C
16183C-16189C-16193.1C-16356C-16362C-16519C-93G-263G-309.1C-309.2C-315.1C-523DEL-524DEL
16354T-146C-263G-315.1C
16354T-16519C-152C-263G-309.1C-315.1C
16291T-16304C-146C-263G-315.1C-456T-573.1C-573.2C-573.3C-573.4C
16291T-16304C-146C-263G-315.1C-456T-573.1C-573.2C-573.3C-573.4C
16304C-189G-263G-315.1C-456T
16070G-152C-263G-309.1C-315.1C-456T
16304C-263G-315.1C-373G-456T
16304C-263G-309.1C-315.1C-456T-523DEL-524DEL
16304C-152C-263G-315.1C-456T
16294T-16304C-263G-315.1C-456T
16304C-263G-309.1C-315.1C-456T-523DEL-524DEL
16294T-16304C-16519C-263G-315.1C-456T-524.1A-524.2C-524.3A-524.4C
16294T-16304C-200G-263G-315.1C-456T-524.1A-524.2C-524.3A-524.4C
16362C-16482G-153G-239C-263G-309.1C-315.1C
16362C-16482G-239C-263G-309.1C-315.1C-522T
16298C-16362C-16482G-239C-263G-309.1C-315.1C
16168T-16519C-152C-263G-315.1C
16298C-16519C-72C-263G-309.1C-315.1C
16298C-16390A-72C-263G-295T-309.1C-309.2C-315.1C
16093Y-16126C-16298C-72C-263G-309.1C-315.1C-523DEL-524DEL
16298C-16311C-72C-263G-309.1C-315.1C
16291T-16298C-16353T-72C-195C-263G-315.1C
16274A-16298C-16311C-16519C-72C-263G-309.1C-309.2C-315.1C
16298C-16311C-72C-263G-309.1C-315.1C
16298C-16311C-72C-263G-309.1C-315.1C
16298C-72C-263G-309.1C-315.1C
16093C-16129A-16223T-16319A-16391A-16519C-73G-199C-204C-207A-250C-263G-309.1C-315.1C-573.1C-573.2C
16129A-16172C-16223T-16391A-16519C-73G-152C-199C-204C-207A-250C-263G-315.1C-573.1C-573.2C-573.3C-573.4C
16129A-16172C-16223T-16258C-16305G-16311C-16391A-16519C-73G-150T-199C203A-204C-250C-263G-309.1C-315.1C-455.1T-573.1C-573.2C-573.3C-573.4C-573.5C
16069T-16126C-16261T-73G-263G-295T-309.1C-315.1C-462T-489C
16069T-16126C-16344T-73G-152C-185A-263G-295T-315.1C-462T-489C
16069T-16126C-16145A-16172C-16261T-73G-242T-263G-295T-309.1C-315.1C-462T-489C
16069T-16126C-16145A-16172C-16261T-73G-242T-263G-295T-309.1C-315.1C-462T-489C
16069T-16126C-16145A-16222T-16261T-73G-242T-263G-295T-315.1C-462T-489C
16069T-16126C-73G-185A-228A-263G-295T-315.1C-462T-489C
16063C-16069T-16126C-73G-228A-263G-295T-309.1C-315.1C-462T-489C-534T
16069T-16114T-16126C-16215G-16265T-16291T-73G-185A-228A-263G-295T-309.1C-315.1C-462T-489C
16069T-16126C-73 G-185 A-228 A-263 G-295T-315.1 C-462T-489C
16069T-16126C-16366T-16519C-73G-185A-188G-228A-263G-295T-309.1C-315.1C-462T-489C-523DEL-524DEL
16069T-16126C-16366T-16519C-73G-185A-188G-228A-263G-295T-309.1C-315.1C-462T-489C-523DEL-524DEL
16069T-16126C-16319A-73G-185R-228A-263G-295T-309.1C-315.1C-462T-489C-524.1A-524.2C
16069T-16126C-16366T-16519C-73G-185A-188G-228A-263G-295T-309.1C-315.1C-462T-489C-523DEL-524DEL
16051G-16069T-16126C-16188T-16311C-73G-150T-152C-195C-235G-263G-295T-309.1C-315.1C-489C
16069T-16126C-16193T-16301T-16311C-73G-150T-152C-263G-295T-309.1C-315.1C-489C
16195C-16224C-16311C-16519C-73G-263G-309.1C-315.1C
16093C-16145A-16224C-16311C-16319A-16519C-73G-143A-146C-152C-263G-309.1C-309.2C-315.1C-524.1A-524.2C
16093C-16224C-16311C-16519C-73G-146C-263G-315.1C
16212G-16224C-16234T-16311C-16519C-73G-195C-263G-315.1C-497T-524.1A-524.2C
16224C-16311C-16519C-73G-263G-315.1C-497T-521G
16224C-16311C-16519C-73G-195C-263G-315.1C-497T
16129A-16224C-16301T-16311C-16519C-73G-263G-309.1C-315.1C-497T-524.1A-524.2C-524.3A-524.4C
16224C-16311C-16519C-73G-215R-263G-315.1C-497T-521G
16093C-16224C-16311C-16390A-16519C-73G-150T-152C-263G-315.1C-497T
16224C-16311C-16519C-73G-146C-152C-263G-315.1C-498DEL

B. Zimmermann et al. / Forensic Science International: Genetics 1 (2007) e4e9


Table 1 (Continued )
Hga

Sample

Profile

M3
N1b1
N1b1
N1b1
N1b1
R0
R0
T
T
T1a
T1a
T1a
T1a
T1a
T1a
T1a
T1a
T1a
T2
T2
T2
T2
T2b
T2b
T2b
T2b
U
U
U1a1
U1a1
U2e
U2e

MC1F3
MC1F11
MC2B1
MC2D10
MC2F8
MC2A8
MC2D12
MC2E2
MC3F2
MC1B5
MC1H10
MC2A6
MC2B3
MC2E6
MC2F2
MC2F6
MC2F7
MC3B2
MC1D1
MC1G2
MC1H8
MC2D3
MC1A4
MC1G7
MC1G10
MC2H10
MC2A5
MC3E2
MC2B2
MC3D1
MC1F8
MC1G5

U2e
U2e
U2e
U2e

MC2E3
MC2E10
MC3C1
MC3H2

U3
U3
U4
U4

MC1A12
MC1E7
MC1B9
MC2B11

U4a
U4a
U5
U5
U5a
U5a
U5a
U5a1
U5a1
U5a1
U5a1
U5a1
U5a1
U5a1
U5b1b
U5b1b
U5b1b
U5b1b
W
W
W
W

MC1A10
MC1G8
MC2B6
MC2D9
MC1F10
MC1G3
MC2D6
MC1C11
MC1D2
MC1E12
MC2C10
MC2D8
MC2E8
MC2H8
MC1E6
MC2C11
MC2E9
MC2G8
MC1A6
MC1B4
MC1C7
MC1C10

16126C-16154C-16223T-16224C-16519C-73G-195C-263G-309.1C-315.1C-482C-489C-523DEL-524DEL
16145A-16176G-16223T-16390A-16519C-73G-152C-263G-315.1C
16145A-16176A-16223T-16241G-16390A-16519C-73G-150T-195C-245C-263G-272G-315.1C-523DEL-524DEL
16126C-16145A-16176G-16311C-16390A-16519C-73G-152C-195C-263G-315.1C
16145A-16176A-16223T-16241G-16390A-16519C-73G-195C-245C-263G-272G-315.1C-523DEL-524DEL
16311C-152Y-263G-309.1C-309.2C-315.1C
16172C-16311C-143 A-199C-263G-309.1C-315.1C
16126C-16294T-16304C-16518T-16519C-73G-228A-263G-297G-309.1C-309.2C-315.1C-523DEL-524DEL
16126C-16163G-16294T-16311C-16519C-73G-263G-309.1C-315.1C
16126C-16163G-16185T-16186T-16189C-16294T-16519C-73G-152C-195C-263G-309.1C-309.2C-315.1C
16126C-16163G-16186T-16189C-16294T-16519C-73G-195C-263G-315.1C
16126C-16163G-16186T-16189C-16294T-16519C-73G-152C-195C-263G-309.1C-315.1C
16126C-16163G-16186T-16189C-16294T-16519C-73G-152C-195C-263G-309.1C-315.1C
16126C-16163G-16186T-16189C-16294T-16519C-73G-152C-195C-263G-309.1C-315.1C
16126C-16163G-16186T-16189C-16294T-16519C-73G-195C-263G-309.1C-315.1C
16126C-16163G-16186T-16189C-16294T-16390A-16519C-73G-263G-315.1C
16126C-16163G-16186T-16189C-16294T-16519C-73G-152C-189G-263G-315.1C
16126C-16163G-16186T-16189C-16294T-16519C-73G-152C-263G-309.1C-315.1C
16126C-16172C-16292T-16294T-16296T-16519C-73G-207A-263G-309.1C-315.1C-523DEL-524DEL
16126C-16140C-16189C-16294T-16296T-16311C-16519C-73G-200G-263G-309.1C-315.1C
16126C-16292T-16294T-16296T-16519C-73G-263G-315.1C-573.1C-573.2C-573.3C-573.4C
16126C-16140C-16189C-16294T-16296T-16311C-16519C-73G-263G-309.1C-315.1C
16126C-16294T-16296T-16304C-16519C-41T-73G-263G-309.1C-315.1C-319C
16126C-16294T-16296T-16304C-16519C-73G-263G-315.1C
16126C-16294T-16296T-16304C-16519C-16527T-73G-150T-263G-315.1C
16126C-16243C-16294T-16296T-16304C-16519C-73G-204C-207A-263G-315.1C
16172C-16182C-16183C-16189C-16234T-16324C-16519C-73G-146C-195C-263G-309.1C-315.1C
16183C-16189C-16193.1C-16234T-16311C-16324C-16519C-73G-195C-263G-309.1C-315.1C
16092C-16189C-16249C-16294T-73G-195C-263G-285T-315.1C-385G-523DEL-524DEL
16092C-16189C-16249C-16294T-73G-195C-263G-285T-315.1C-385G-523DEL-524DEL-572T
16051G-16129C-16189C-16256T-16274A-16362C-16519C-73G-152C-217C-263G-315.1C-340T-508G-573.1C
16051G-16129C-16145A-16183C-16189C-16193.1C-16223T-16362C-16519C-16527T-73G-152C-217C263G-315.1C-340T-508G-523DEL-524DEL
16051G-16129C-16183C-16189C-16362C-16519C-73G-152C-217C-263G-309.1C-315.1C-340T-489C-508G
16051G-16129C-16183C-16193.1C-16209C-16362C-16519C-73G-217C-228A-263G-309.1C-315.1C-318C-340T-508G
16051G-16129C-16183C-16189C-16193.1C-16362C-16519C-73G-152C-217C-263G-309.1C-315.1C-508G
16051G-16129C-16145A-16183C-16189C-16193.1C-16223T-16362C-16519C-16527T-73G-152C-217C-263G315.1C-340T-498Y-508G-523DEL-524DEL
16343G-73G-150T-263G-315.1C
16104T-16263C-16343G-16519C-73G-146C-150T-263G-309.1C-315.1C-464C-523DEL-524DEL-575T
16179T-16356C-16519C-73G-195C-263G-315.1C-499A-524.1A-524.2C
16134T-16178C-16247G-16356C-16519C-73G-152C-195C-263G-309.1C-309.2C-315.1C-398.1A-398.2C398.3C-398.4A-398.5G-398.6A-398.7T-398.8T-398.9T-398.10C-398.11A-398.12A-398.13A-398.14T-499A
16356C-16519C-73G-152C-195C-263G-310C-499A-524.1A-524.2C
16356C-16519C-73G-195C-263G-310C-499A-524.1A-524.2C-524.3A-524.4C
16192T-16256T-16526A-73G-152C-204C-207A-263G-309.1C-315.1C-523DEL-524DEL
16093Y-16189C-73G-150T-152C-263G-315.1C-513A
16192T-16256T-16270T-16311C-16526A-73G-263G-315.1C-524.1A-524.2C
16093Y-16256T-16270T-16526A-73G-263G-309.1C-315.1C
16114A-16129A-16192T-16256T-16270T-16294T-16390A-16526A-73G-263G-309.1C-315.1C
16192T-16256T-16270T-16325C-16399G-73G-263G-309.1C-315.1C
16256T-16270T-16399G-73G-146C-207A-263G-315.1C
16192T-16221Y-16256T-16270T-16325C-16399G-73G-263G-309.1C-315.1C
16192T-16256T-16270T-16325C-16399G-73G-263G-309.1C-315.1C
16256T-16270T-16399G-73G-146C-207A-263G-315.1C
16256T-16270T-16399G-73G-146C-207A-263G-315.1C
16192T-16256T-16270T-16325C-16399G-73G-263G-309.1C-315.1C
16093C-16183M-16189C-16270T-73G-150T-263G-315.1C
16093Y-16189C-16270T-73G-150T-152C-263G-315.1C-513A
16093C-16189C-16270T-73G-150T-152C-263G-315.1C-513A
16093C-16189C-16270T-73G-150T-152C-263G-315.1C-513A
16223T-16292T-16295T-16519C-73G-119C-189G-195C-204C-207A-263G-315.1C
16093Y-16223T-16292T-16344T-16519C-73G-189G-194T-195C-204C-207A-263G-315.1C
16223T-16292T-16311C-16519C-73G-143A-189G-195C-204C-207A-263G-315.1C
16223T-16295Y-16519C-73G-119C-189G-195C-204C-207A-263G-315.1C-523DEL-524DEL

e7

e8

B. Zimmermann et al. / Forensic Science International: Genetics 1 (2007) e4e9

Table 1 (Continued )
Hg a

Sample

Profile

W
W
W
W
X2
X2
X2b
X2b
X2b
X2d

MC1E9
MC2A2
MC2H1
MC2H4
MC2C4
MC2H7
MC1G6
MC2A9
MC2E5
MC1A8

16193T-16223T-16292T-16519C-73G-119C-152C-189G-195C-204C-207A-263G-315.1C
16086C-16223T-16234T-16292T-16519C-73G-194T-195C-204C-207A-263G-315.1C
16223T-16234T-16265C-16292T-16519C-73G-189G-194T-195C-204C-207A-263G-315.1C
16192T-16223T-16292T-16325C-16519C-73G-189G-195C-204C-207A-263G-309.1C-315.1C
16182C-16183C-16189C-16201T-16223T-16278T-16519C-73G-152C-153G-195C-263G-315.1C
16179T-16189C-16223T-16278T-16320T-16362C-16519C-73G-153G-195C-263G-309.1C-315.1C-523DEL-524DEL
16183C-16189C-16223T-16278T-16519C-73G-153G-188G-195C-225A-226C-263G-309.1C-315.1C
16189C-16223T-16278T-16519C-73G-153G-188G-195C-225A-226C-263G-309.1C-315.1C
16189C-16192T-16223T-16278T-16292T-73G-143A-189G-195C-225A-226C-235G-263G-309.1C-315.1C
16189C-16223T-16278T-16318G-16519C-73G-195C-204C-207A-263G-315.1C

Variant positions from the rCRS are shown between 1602416569 and 1576.
a
Hg, Haplogroup.

RMP was estimated 1:138 or 0.72%). In total, 163 different


haplotypes defined by 177 variable positions were identified.
Among these, 141 sequences were unique (86.5%). Point
heteroplasmic positions were detected in 10% of our samples
(Table 1). The mtDNA haplotypes are available in the EMPOP
database [1,2].
Other remarks: As anticipated, the basic phylogenetic
structure of the Macedonian sample is in agreement with other
West-Eurasian populations. More than 50% of the Macedonian
samples could be assigned to haplogroup cluster HV, that
includes haplogroups HV0, H* and known subhaplogroups of
H. Two samples were assigned to haplogroup R0. Haplogroups
observed at intermediate frequencies included clusters U
(16.0%), T (9.5%), J (7.5%) and K (5.0%). The haplogroups
observed less frequently included W (4.0%), X (3.0%), N
(1.5%), I (2.0%), M3 (0.5%) and B4 (0.5%). The haplogroup
status of 18 samples (MC1B6, MC1E11, MC2A5, MC2A8,
MC2B6, MC2B9, MC2C12, MC2D5, MC2D9, MC2D10,
MC2D12, MC2E2, MC2E5, MC2E10, MC2F1, MC2F9,
MC2H2, MC3E2) that could not be assigned unambiguously
to a particular haplogroup with control region information only,
was confirmed by 16 coding region SNPs [17]. All three
haplogroup I samples in our data set showed a differing number
of C-insertions in the C-stretch at the 30 end of the control
region between positions 568 and 573 resulting in length
heteroplasmy. The incidence of length heteroplasmy in this
segment and associated nomenclature suggestions have been
described before [20]. One particular 14 basepair insertion
between nucleotide position 398 and 399 was found in sample
MC2B11 representing a duplication of the sequence string nt
385398.
Acknowledgements
The authors thank Bernd Lorbeg and Roswitha Muhlmann
for excellent technical assistance. The present project has been
approved by the Macedonian Human DNA Bank after signed
copy of Request Form for DNA, and Assurance Form (IIBHG
#184, October 1, 2003). Special thanks go to Elena Zharieva for
sample collection, technical support, and laboratory direction.
Nina Duftner currently holds an Erwin-Schrodinger Postdoctoral Fellowship from the Austrian Science Fund.

References
[1] W. Parson, A. Dur, EMPOPa forensic mtDNA database, FSI:Genetics 1
(2) (2007) 8892.
[2] W. Parson, A. Brandstatter, A. Alonso, N. Brandt, B. Brinkmann, A.
Carracedo, et al., The EDNAP mitochondrial DNA population database
(EMPOP) collaborative exercises: organisation, results and perspectives,
Forensic Sci. Int. 139 (23) (2004) 215226.
[3] M. Spiroski, T. Arsov, A. Petlichkovski, A. Strezova, D. Trajkov, O.
Efinska-Mladenovska, E. Zaharieva, Case study: Macedonian human
DNA Bank (hDNAMKD) as a source for public health genetics, in: L.
Georgieva, G. Burazeri (Eds.), Health Determinants in the Scope of New
Public Health, Hans Jacobs Company, Sofia, 2005, pp. 3344.
[4] P. Towner, in: T.A. Brown (Ed.), Purification of DNA. Essential Molecular
Biology, vol. 1, Oxford University Press, Oxford, 1995, pp. 4754.
[5] A. Brandstatter, H. Niederstatter, M. Pavlic, P. Grubwieser, W. Parson,
Generating population data for the EMPOP database an overview of the
mtDNA sequencing and data evaluation processes considering 273 Austrian control region sequences as example, Forensic Sci. Int. 166 (23)
(2007) 164175.
[6] S. Anderson, A.T. Bankier, B.G. Barrell, M.H. de Bruijn, A.R. Coulson, J.
Drouin, et al., Sequence and organization of the human mitochondrial
genome, Nature 290 (5806) (1981) 457465.
[7] R.M. Andrews, I. Kubacka, P.F. Chinnery, R.N. Lightowlers, D.M.
Turnbull, N. Howell, Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA, Nat. Genet. 23 (2) (1999)
147.
[8] W. Bar, B. Brinkmann, B. Budowle, A. Carracedo, P. Gill, M. Holland,
et al., DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing, Int. J. Legal Med. 113 (4)
(2000) 193196.
[9] A. Carracedo, W. Bar, P. Lincoln, W. Mayr, N. Mrling, B. Olaisen, et al.,
DNA Commission of the International Society for Forensic Genetics:
guidelines for mitochondrial DNA typing, Forensic Sci. Int. 110 (2) (2000)
7985.
[10] H.J. Bandelt, W. Parson, Consistent treatment of length variants in the
human mtDNA control region: a reappraisal, Int. J. Legal Med. (2007),
doi:10.1007/s00414-006-0151-5.
[11] A. Achilli, C. Rengo, C. Magri, V. Battaglia, A. Olivieri, R. Scozzari,
et al., 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 (5) (2004) 910918.
[12] E.-L. Loogvali, U. Roostalu, B.A. Malyarchuk, M.V. Derenko, T. Kivisild,
E. Metspalu, et al., Disuniting uniformity: a pied cladistic canvas of
mtDNA haplogroup H in Eurasia, Mol. Biol. Evol. 21 (11) (2004) 2012
2021.
[13] M.G. Palanichamy, C. Sun, S. Agrawal, H.-J. Bandelt, Q.-P. Kong, F.
Khan, et al., Phylogeny of mitochondrial DNA macrohaplogroup N in
India, based on complete sequencing: implications for the peopling of
South Asia, Am. J. Hum. Genet. 75 (6) (2004) 966978.

B. Zimmermann et al. / Forensic Science International: Genetics 1 (2007) e4e9


[14] A. Achilli, C. Rengo, V. Battaglia, M. Pala, A. Olivieri, S. Fornarino, et al.,
Saami and berbersan unexpected mitochondrial DNA link, Am. J. Hum.
Genet. 76 (5) (2005) 883886.
[15] A. Torroni, A. Achilli, V. Macaulay, M. Richards, H.J. Bandelt, Harvesting
the fruit of the human mtDNA tree, Trends Genet. 22 (3) (2006) 339345.
[16] Q.P. Kong, H.J. Bandelt, C. Sun, Y.G. Yao, A. Salas, A. Achilli, et al.,
Updating the East Asian mtDNA phylogeny: a prerequisite for the
identification of pathogenic mutations, Hum. Mol. Genet. 15 (13)
(2006) 20762086.
[17] A. Brandstatter, T.J. Parsons, W. Parson, Rapid screening of mtDNA
coding region SNPs for the identification of west European Caucasian
haplogroups, Int. J. Legal Med. 117 (5) (2003) 291298.

e9

[18] M. Stoneking, D. Hedgecock, R.G. Higuchi, L. Vigilant, H.A. Erlich,


Population variation of human mtDNA control region sequences detected
by enzymatic amplification and sequence-specific oligonucleotide probes,
Am. J. Hum. Genet. 48 (2) (1991) 370382.
[19] S. Schneider, D. Roessli, L. Excoffier, Arlequin ver. 2.0: A Software for
Population Genetic Data Analysis, Genetics and Biometry Laboratory,
University of Geneva, Switzerland, 2000.
[20] A. Brandstatter, C.T. Peterson, J.A. Irwin, S. Mpoke, D.K. Koech, W.
Parson, T.J. Parsons, Mitochondrial DNA control region sequences
from Nairobi (Kenya): inferring phylogenetic parameters for the establishment of a forensic database, Int. J. Legal Med. 118 (5) (2004) 294
306.

Vous aimerez peut-être aussi