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Announcement of population data

Mitochondrial DNA control region population data from Macedonia

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

aInstitute of Legal Medicine, Innsbruck Medical University, Mullerstrasse 44, A-6020 Innsbruck, Austria

bFAS Center for Systems Biology, Harvard University, Cambridge, MA, USA

c Section of Integrative Biology, University of Texas, 1 University Station, Austin, TX, USAd

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. Brandsta tter, 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 healthyunrelated 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 extrac-

tion 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).

Consensus sequences were aligned and compared to therevised Cambridge Reference Sequence (rCRS [6,7]).

Observed sequence variants were notated following nomen-

clature guidelines for mtDNA typing [810]. Macedonian

mtDNA haplotypes were affiliated to (sub)-haplogroups based

on patterns of shared haplogroup-specific or haplogroup-

associated 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 werecalculated 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% forthe entirecontrol region(when

taking C-stretch length variants into consideration, the observed

www.elsevier.com/locate/fsigForensic Science International: Genetics 1 (2007) e4e9

* 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

http://www.empop.org/http://dx.doi.org/10.1016/j.fsigen.2007.01.018mailto:walther.parson@i-med.ac.athttp://dx.doi.org/10.1016/j.fsigen.2007.03.002http://dx.doi.org/10.1016/j.fsigen.2007.03.002mailto:walther.parson@i-med.ac.athttp://dx.doi.org/10.1016/j.fsigen.2007.01.018http://www.empop.org/

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Table 1

Control region sequences in Macedonia

Hga Sample Profile

B4? MC2F10 16086C-16172C-16187T-16189C-16217C-16223T-73G-146C-210G-263G-315.1C-315.2C-534T-571

H* MC1A5 16189C-16519C-146C-153G-195Y-204C-263G-309.1C-309.2C-315.1C

H* MC1A9 16519C-263G-309.1C-315.1C

H * MC1B2 16519C-146C-263G-309.1C-309.2C-315.1C

H * MC1B3 16519C-263G-309.1C-309.2C-315.1CH * MC1B6 16519C-73G-263G-315.1C-573.1C-573.2C

H* MC1B7 16114Y-16344T-16519C-263G-309.1C-315.1C-513A

H * MC1B10 16244A-16399G-207A-263G-315.1C

H* MC1B11 16519C-152C-263G-315.1C

H* MC1B12 16261T-16311C-16519C-263G-315.1C-523DEL-524DEL

H* MC1C2 16519C-263G-309.1C-315.1C

H* MC1C4 16519C-263G-309.1C-315.1C

H * MC1C5 16311C-16519C-263G-309.1C-309.2C-315.1C

H* MC1C8 16519C-186A-263G-309.1C-315.1C

H * MC1C9 16092C-16293G-16311C-152C-195C-263G-315.1C

H* MC1C12 16519C-263G-315.1C

H * MC1D3 16129A-16270T-16519C-263G-315.1C-481T

H * MC1D10 16293C-262T-263G-309.1C-309.2C-315.1C

H* MC1D11 16092C-16293G-16311C-152C-195C-263G-315.1C

H* MC1D12 16147T-16519C-195C-263G-315.1C-523DEL-524DELH * MC1E1 16298C-16519C-185A-235G-263G-309.1C-315.1C

H* MC1E3 16114T-16344T-16519C-263G-309.1C-309.2C-315.1C-513A

H * MC1E4 55C-56.1A-263G-309.1C-309.2C-315.1C

H* MC1E5 16176T-16182C-16183C-16189C-16519C-263G-309.1C-309.2C-309.3C-315.1C

H* MC1F1 16362C-16519C-263G-315.1C

H* MC1F12 16189C-16519C-146C-153G-263G-309.1C-315.1C

H* MC1G4 16189C-16519C-153G-263G-309.1C-309.2C-315.1C

H * MC1G9 16519C-152C-215G-263G-309.1C-309.2C-315.1C

H* MC1H2 263G-309.1C-309.2C-315.1C

H* MC1H4 16189C-16193.1C-16193.2C-16519C-146C-153G-195Y-204C-263G-309.1C-309.2C-315.1C

H* MC1H5 16311C-263G-315.1C

H * MC1H7 16298C-16519C-263G-309.1C-315.1C

H* MC1H11 16259T-16519C-263G-309.1C-309.2C-315.1C-316A

H* MC1H12 16189C-16519C-204C-263G-309.1C-309.2C-315.1C

H* MC2A10 16519C-146C-263G-315.1C

H * MC2A11 16293G-16311C-195C-263G-309.1C-315.1C

H* MC2B4 16519C-143A-263G-315.1C-453C

H* MC2B8 16319 A-263 G-315.1 C-523DEL-524DEL

H* MC2B9 73G-263G-315.1C-523DEL-524DEL

H * MC2B12 16244A-16399G-207A-263G-315.1C

H* MC2C3 263 G-315.1C-523DEL-524DEL

H * MC2D1 16070G-152C-263G-315.1C-456T-513A

H* MC2D4 16189C-16519C-146C-153R-263G-309.1C-309.2C-315.1C

H * MC2D7 16311C-16519C-263G-315.1C-523DEL-524DEL

H * MC2D11 16093Y-16311C-16519C-152C-263G-315.1C

H* MC2E12 16311C-263G-315.1C

H* MC2F3 16129A-16291T-16519C-16527T-152C-263G-309.1C-309.2C-315.1C-437T

H* MC2G1 16092C-16293G-16311C-146C-195C-204Y-263G-315.1C

H * MC2G2 16519C-152C-263G-295T-309.1C-309.2C-315.1C

H * MC2G5 16519C-263G-315.1 C-523DEL-524DEL

H * MC2G6 16278T-16293G-16311C-195C-263G-315.1C

H* MC2G7 16182C-16183C-16189C-16519C-263G-309.1C-309.2C-315.1C

H* MC2G9 16519C-146C-263G-315.1C

H* MC2G11 16092C-16293G-16311C-152C-195C-263G-315.1C

H * MC2G12 16311C-16519C-195C-263G-309.1C-315.1C

H * MC2H1 16189C-16519C-153G-263G-309.1C-315.1C

H * MC2H5 16093C-16311C-16519C-152C-263G-315.1C

H* MC2H12 263G-315.1C

H* MC3A3 16124Y-16189C-16519C-263G-315.1C-523DEL-524DEL

H* MC3B1 16217Y-16519C-263G-309.1C-309.2C-315.1C-453C

H* MC3C2 263G-309.1C-315.1C

H * MC3F1 16519C-263G-309.1C-309.2C-315.1C

H* MC3G1 263G-315.1C-523DEL-524DEL

H* MC3G2 16311C-16390A-16519C-195C-263G-309.1C-315.1C

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Table 1 (Continued)

Hga Sample Profile

H* MC1E11 16148T-16256T-16319A-152C-189G-193G-249G-309.1C-315.1C

H12 MC1D9 16287T-16519C-195C-263G-315.1C

H12 MC1F2 16287T-16519C-195C-263G-315.1C

H12 MC1G11 16287T-16519C-195C-263G-315.1C

H12 MC2E1 16287T-16519C-195C-263G-315.1C

H12 MC2E11 16287T-16519C-195C-263G-315.1CH12 MC2G4 16287T-16519C-195C-263G-315.1C

H1b MC1D5 16189C-16356C-16519C-263G-309.1C-309.2C-315.1C

H1b MC2B10 16189C-16324C-16356C-16519C-152C-263G-315.1C

H1b MC2C7 16183C-16189C-16193.1C-16356C-16362C-16519C-93G-263G-309.1C-309.2C-315.1C-523DEL-524DEL

H2a1 MC1A3 16354T-146C-263G-315.1C

H2a1 MC1E2 16354T-16519C-152C-263G-309.1C-315.1C

H5 MC1E10 16291T-16304C-146C-263G-315.1C-456T-573.1C-573.2C-573.3C-573.4C

H5 MC1B1 16291T-16304C-146C-263G-315.1C-456T-573.1C-573.2C-573.3C-573.4C

H5 MC1E8 16304C-189G-263G-315.1C-456T

H5 MC1F4 16070G-152C-263G-309.1C-315.1C-456T

H5 MC1F6 16304C-263G-315.1C-373G-456T

H5 MC1G12 16304C-263G-309.1C-315.1C-456T-523DEL-524DEL

H5 MC1H6 16304C-152C-263G-315.1C-456T

H5 MC2C2 16294T-16304C-263G-315.1C-456T

H5 MC2E4 16304C-263G-309.1C-315.1C-456T-523DEL-524DELH5 MC2G3 16294T-16304C-16519C-263G-315.1C-456T-524.1A-524.2C-524.3A-524.4C

H5 MC2H6 16294T-16304C-200G-263G-315.1C-456T-524.1A-524.2C-524.3A-524.4C

H6 MC1F5 16362C-16482G-153G-239C-263G-309.1C-315.1C

H6 MC2A3 16362C-16482G-239C-263G-309.1C-315.1C-522T

H6 MC2A4 16298C-16362C-16482G-239C-263G-309.1C-315.1C

H9 MC1G1 16168T-16519C-152C-263G-315.1C

HV0 MC1B8 16298C-16519C-72C-263G-309.1C-315.1C

HV0 MC2C1 16298C-16390A-72C-263G-295T-309.1C-309.2C-315.1C

HV0 MC2C6 16093Y-16126C-16298C-72C-263G-309.1C-315.1C-523DEL-524DEL

HV0 MC2C12 16298C-16311C-72C-263G-309.1C-315.1C

HV0 MC2D5 16291T-16298C-16353T-72C-195C-263G-315.1C

HV0 MC2E7 16274A-16298C-16311C-16519C-72C-263G-309.1C-309.2C-315.1C

HV0 MC2F9 16298C-16311C-72C-263G-309.1C-315.1C

HV0 MC2H2 16298C-16311C-72C-263G-309.1C-315.1C

HV0 MC3H1 16298C-72C-263G-309.1C-315.1CI MC2F4 16093C-16129A-16223T-16319A-16391A-16519C-73G-199C-204C-207A-250C-263G-309.1C-315.1C-573.1C-573.2C

I MC3A2 16129A-16172C-16223T-16391A-16519C-73G-152C-199C-204C-207A-250C-263G-315.1C-573.1C-573.2C-573.3C-573.4C

I1a MC1D4 16129A-16172C-16223T-16258C-16305G-16311C-16391A-16519C-73G-150T-199C-

203A-204C-250C-263G-309.1C-315.1C-455.1 T-573.1C-573.2C-573.3C-573.4C-573.5C

J1 MC1H1 16069T-16126C-16261T-73G-263G-295T-309.1C-315.1C-462T-489C

J1 MC2D2 16069T-16126C-16344T-73G-152C-185A-263G-295T-315.1C-462T-489C

J1b1 MC1A2 16069T-16126C-16145A-16172C-16261T-73G-242T-263G-295T-309.1C-315.1C-462T-489C

J1b1 MC1F9 16069T-16126C-16145A-16172C-16261T-73G-242T-263G-295T-309.1C-315.1C-462T-489C

J1b1 MC3E1 16069T-16126C-16145A-16222T-16261T-73G-242T-263G-295T-315.1C-462T-489C

J1c MCI A11 16069T-16126C-73G-185A-228A-263G-295T-315.1C-462T-489C

J1c MC1C3 16063C-16069T-16126C-73G-228A-263G-295T-309.1C-315.1C-462T-489C-534T

J1c MC1D6 16069T-16114T-16126C-16215G-16265T-16291T-73G-185A-228A-263G-295T-309.1C-315.1C-462T-489C

J1c MC1D7 16069T-16126C-73 G-185 A-228 A-263 G-295T-315.1 C-462T-489C

J1c MC2B5 16069T-16126C-16366T-16519C-73G-185A-188G-228A-263G-295T-309.1C-315.1C-462T-489C-523DEL-524DEL

J1c MC2B7 16069T-16126C-16366T-16519C-73G-185A-188G-228A-263G-295T-309.1C-315.1C-462T-489C-523DEL-524DELJ1c MC2C5 16069T-16126C-16319A-73G-185R-228A-263G-295T-309.1C-315.1C-462T-489C-524.1A-524.2C

J1c MC2F12 16069T-16126C-16366T-16519C-73G-185A-188G-228A-263G-295T-309.1C-315.1C-462T-489C-523DEL-524DEL

J2 MC3D2 16051G-16069T-16126C-16188T-16311C-73G-150T-152C-195C-235G-263G-295T-309.1C-315.1C-489C

J2b MC1C6 16069T-16126C-16193T-16301T-16311C-73G-150T-152C-263G-295T-309.1C-315.1C-489C

K MC1C1 16195C-16224C-16311C-16519C-73G-263G-309.1C-315.1C

K MC1F7 16093C-16145A-16224C-16311C-16319A-16519C-73G-143A-146C-152C-263G-309.1C-309.2C-315.1C-524.1A-524.2C

K MC2C9 16093C-16224C-16311C-16519C-73G-146C-263G-315.1C

K1a MC1D8 16212G-16224C-16234T-16311C-16519C-73G-195C-263G-315.1C-497T-524.1A-524.2C

K1a MC2A12 16224C-16311C-16519C-73G-263G-315.1C-497T-521G

K1a MC2F1 16224C-16311C-16519C-73G-195C-263G-315.1C-497T

K1a MC2F5 16129A-16224C-16301T-16311C-16519C-73G-263G-309.1C-315.1C-497T-524.1A-524.2C-524.3A-524.4C

K1a MC2F11 16224C-16311C-16519C-73G-215R-263G-315.1C-497T-521G

K1a MC2G10 16093C-16224C-16311C-16390A-16519C-73G-150T-152C-263G-315.1C-497T

K1c MC2C8 16224C-16311C-16519C-73G-146C-152C-263G-315.1C-498DEL

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Table 1 (Continued)

Hga Sample Profile

M3 MC1F3 16126C-16154C-16223T-16224C-16519C-73G-195C-263G-309.1C-315.1C-482C-489C-523DEL-524DEL

N1b1 MC1F11 16145A-16176G-16223T-16390A-16519C-73G-152C-263G-315.1C

N1b1 MC2B1 16145A-16176A-16223T-16241G-16390A-16519C-73G-150T-195C-245C-263G-272G-315.1C-523DEL-524DEL

N1b1 MC2D10 16126C-16145A-16176G-16311C-16390A-16519C-73G-152C-195C-263G-315.1C

N1b1 MC2F8 16145A-16176A-16223T-16241G-16390A-16519C-73G-195C-245C-263G-272G-315.1C-523DEL-524DEL

R0 MC2A8 16311C-152Y-263G-309.1C-309.2C-315.1CR0 MC2D12 16172C-16311C-143 A-199C-263G-309.1C-315.1C

T MC2E2 16126C-16294T-16304C-16518T-16519C-73G-228A-263G-297G-309.1C-309.2C-315.1C-523DEL-524DEL

T MC3F2 16126C-16163G-16294T-16311C-16519C-73G-263G-309.1C-315.1C

T1a MC1B5 16126C-16163G-16185T-16186T-16189C-16294T-16519C-73G-152C-195C-263G-309.1C-309.2C-315.1C

T1a MC1H10 16126C-16163G-16186T-16189C-16294T-16519C-73G-195C-263G-315.1C

T1a MC2A6 16126C-16163G-16186T-16189C-16294T-16519C-73G-152C-195C-263G-309.1C-315.1C

T1a MC2B3 16126C-16163G-16186T-16189C-16294T-16519C-73G-152C-195C-263G-309.1C-315.1C

T1a MC2E6 16126C-16163G-16186T-16189C-16294T-16519C-73G-152C-195C-263G-309.1C-315.1C

T1a MC2F2 16126C-16163G-16186T-16189C-16294T-16519C-73G-195C-263G-309.1C-315.1C

T1a MC2F6 16126C-16163G-16186T-16189C-16294T-16390A-16519C-73G-263G-315.1C

T1a MC2F7 16126C-16163G-16186T-16189C-16294T-16519C-73G-152C-189G-263G-315.1C

T1a MC3B2 16126C-16163G-16186T-16189C-16294T-16519C-73G-152C-263G-309.1C-315.1C

T2 MC1D1 16126C-16172C-16292T-16294T-16296T-16519C-73G-207A-263G-309.1C-315.1C-523DEL-524DEL

T2 MC1G2 16126C-16140C-16189C-16294T-16296T-16311C-16519C-73G-200G-263G-309.1C-315.1C

T2 MC1H8 16126C-16292T-16294T-16296T-16519C-73G-263G-315.1C-573.1C-573.2C-573.3C-573.4CT2 MC2D3 16126C-16140C-16189C-16294T-16296T-16311C-16519C-73G-263G-309.1C-315.1C

T2b MC1A4 16126C-16294T-16296T-16304C-16519C-41T-73G-263G-309.1C-315.1C-319C

T2b MC1G7 16126C-16294T-16296T-16304C-16519C-73G-263G-315.1C

T2b MC1G10 16126C-16294T-16296T-16304C-16519C-16527T-73G-150T-263G-315.1C

T2b MC2H10 16126C-16243C-16294T-16296T-16304C-16519C-73G-204C-207A-263G-315.1C

U MC2A5 16172C-16182C-16183C-16189C-16234T-16324C-16519C-73G-146C-195C-263G-309.1C-315.1C

U MC3E2 16183C-16189C-16193.1C-16234T-16311C-16324C-16519C-73G-195C-263G-309.1C-315.1C

U1a1 MC2B2 16092C-16189C-16249C-16294T-73G-195C-263G-285T-315.1C-385G-523DEL-524DEL

U1a1 MC3D1 16092C-16189C-16249C-16294T-73G-195C-263G-285T-315.1C-385G-523DEL-524DEL-572T

U2e MC1F8 16051G-16129C-16189C-16256T-16274A-16362C-16519C-73G-152C-217C-263G-315.1C-340T-508G-573.1C

U2e MC1G5 16051G-16129C-16145A-16183C-16189C-16193.1C-16223T-16362C-16519C-16527T-73G-152C-217C-

263G-315.1C-340T-508G-523DEL-524DEL

U2e MC2E3 16051G-16129C-16183C-16189C-16362C-16519C-73G-152C-217C-263G-309.1C-315.1C-340T-489C-508G

U2e MC2E10 16051G-16129C-16183C-16193.1C-16209C-16362C-16519C-73G-217C-228A-263G-309.1C-315.1C-318C-340T-508G

U2e MC3C1 16051G-16129C-16183C-16189C-16193.1C-16362C-16519C-73G-152C-217C-263G-309.1C-315.1C-508GU2e MC3H2 16051G-16129C-16145A-16183C-16189C-16193.1C-16223T-16362C-16519C-16527T-73G-152C-217C-263G-

315.1C-340T-498Y-508G-523DEL-524DEL

U3 MC1A12 16343G-73G-150T-263G-315.1C

U3 MC1E7 16104T-16263C-16343G-16519C-73G-146C-150T-263G-309.1C-315.1C-464C-523DEL-524DEL-575T

U4 MC1B9 16179T-16356C-16519C-73G-195C-263G-315.1C-499A-524.1A-524.2C

U4 MC2B11 16134T-16178C-16247G-16356C-16519C-73G-152C-195C-263G-309.1C-309.2C-315.1C-398.1A-398.2C-

398.3C-398.4A-398.5G-398.6A-398.7T-398.8T-398.9T-398.10C-398.11A-398.12A-398.13A-398.14T-499A

U4a MC1A10 16356C-16519C-73G-152C-195C-263G-310C-499A-524.1A-524.2C

U4a MC1G8 16356C-16519C-73G-195C-263G-310C-499A-524.1A-524.2C-524.3A-524.4C

U5 MC2B6 16192T-16256T-16526A-73G-152C-204C-207A-263G-309.1C-315.1C-523DEL-524DEL

U5 MC2D9 16093Y-16189C-73G-150T-152C-263G-315.1C-513A

U5a MC1F10 16192T-16256T-16270T-16311C-16526A-73G-263G-315.1C-524.1A-524.2C

U5a MC1G3 16093Y-16256T-16270T-16526A-73G-263G-309.1C-315.1C

U5a MC2D6 16114A-16129A-16192T-16256T-16270T-16294T-16390A-16526A-73G-263G-309.1C-315.1C

U5a1 MC1C11 16192T-16256T-16270T-16325C-16399G-73G-263G-309.1C-315.1CU5a1 MC1D2 16256T-16270T-16399G-73G-146C-207A-263G-315.1C

U5a1 MC1E12 16192T-16221Y-16256T-16270T-16325C-16399G-73G-263G-309.1C-315.1C

U5a1 MC2C10 16192T-16256T-16270T-16325C-16399G-73G-263G-309.1C-315.1C

U5a1 MC2D8 16256T-16270T-16399G-73G-146C-207A-263G-315.1C

U5a1 MC2E8 16256T-16270T-16399G-73G-146C-207A-263G-315.1C

U5a1 MC2H8 16192T-16256T-16270T-16325C-16399G-73G-263G-309.1C-315.1C

U5b1b MC1E6 16093C-16183M-16189C-16270T-73G-150T-263G-315.1C

U5b1b MC2C11 16093Y-16189C-16270T-73G-150T-152C-263G-315.1C-513A

U5b1b MC2E9 16093C-16189C-16270T-73G-150T-152C-263G-315.1C-513A

U5b1b MC2G8 16093C-16189C-16270T-73G-150T-152C-263G-315.1C-513A

W MC1A6 16223T-16292T-16295T-16519C-73G-119C-189G-195C-204C-207A-263G-315.1C

W MC1B4 16093Y-16223T-16292T-16344T-16519C-73G-189G-194T-195C-204C-207A-263G-315.1C

W MC1C7 16223T-16292T-16311C-16519C-73G-143A-189G-195C-204C-207A-263G-315.1C

W MC1C10 16223T-16295Y-16519C-73G-119C-189G-195C-204C-207A-263G-315.1C-523DEL-524DEL

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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 EMPOPdatabase[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 3 0 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 nt385398.

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 Postdoc-

toral Fellowship from the Austrian Science Fund.

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Hga Sample Profile

W MC1E9 16193T-16223T-16292T-16519C-73G-119C-152C-189G-195C-204C-207A-263G-315.1C

W MC2A2 16086C-16223T-16234T-16292T-16519C-73G-194T-195C-204C-207A-263G-315.1C

W MC2H1 16223T-16234T-16265C-16292T-16519C-73G-189G-194T-195C-204C-207A-263G-315.1C

W MC2H4 16192T-16223T-16292T-16325C-16519C-73G-189G-195C-204C-207A-263G-309.1C-315.1C

X2 MC2C4 16182C-16183C-16189C-16201T-16223T-16278T-16519C-73G-152C-153G-195C-263G-315.1C

X2 MC2H7 16179T-16189C-16223T-16278T-16320T-16362C-16519C-73G-153G-195C-263G-309.1C-315.1C-523DEL-524DELX2b MC1G6 16183C-16189C-16223T-16278T-16519C-73G-153G-188G-195C-225A-226C-263G-309.1C-315.1C

X2b MC2A9 16189C-16223T-16278T-16519C-73G-153G-188G-195C-225A-226C-263G-309.1C-315.1C

X2b MC2E5 16189C-16192T-16223T-16278T-16292T-73G-143A-189G-195C-225A-226C-235G-263G-309.1C-315.1C

X2d MC1A8 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.

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