HAPLOID DNA MARKERS IN FORENSIC GENETICS workshop (22-24 апреля 2010, Германия)

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Update On The mtDNA Phylogeny In Eastern and Western
Slavs

Boris Malyarchuk1, Miroslava Derenko1, Urszula Rogalla2, Patrycja Daca2, Tomasz Grzybowski2 (Presented
by Urszula Rogalla)

1Institute of Biological Problems of the North, Far-East Branch of the Russian Academy of Sciences, Magadan, Russia
2The Nicolaus Copernicus University, Ludwik Rydygier Collegium Medicum, Institute of Forensic Medicine, Department
of Molecular and Forensic Genetics, Bydgoszcz, Poland

To resolve the phylogeny of certain mitochondrial DNA (mtDNA) haplogroups in Eastern Europe and estimate
their evolutionary age, a total of 186 samples representing mitochondrial haplogroups U4, U5,
HV*, and R1 were selected for complete mitochondrial genome sequencing from a collection of about
2400 control-region sequences sampled in Eastern (Russians, Belorussians, Ukrainians) and Western (Poles,
Czechs and Slovaks) Slavs. On the basis of whole-genome resolution, we fully characterized a number of
haplogroups (HV3, HV4, U4a1, U4a2, U4a3, U4b, U4c, U4d, and R1a) that were previously described
only partially. Also, complete mtDNA data from eastern European populations allow us to refine the hg U5
phylogeny. Haplogroups HV3, HV4, and U4a1 could be traced back to the pre-Neolithic times ( 12.0-19.0
ky) in Eastern Europe. Meanwhile, some mtDNA subgroups observed in Slavs (such as U4a2a, U4a2*,
HV3a, R1a1) are definitely younger, being dated between 6.4-8.2 ky. Some U5a2 subclusters, such as
U5a2a and U5a2b1, which are present mainly in central and eastern European populations, also show
similar evolutionary ages of 8.0 ky. This probably reflects distribution of the Chalcolithic and Early Bronze
Age Corded Ware European cultures, as it has been suggested recently on the basis of phylogeographic
distribution of Y-chromosome R1a1a1-M458 subcluster characterized by similar expansion time. We also
present here a short update on Eastern Eurasian and African-specific components in a mtDNA pool of Slavic
populations.

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Comparative Y-STR and Y-SNP Analysis In Two Vlachian
Romani Population Groups From Eastern Hungary

Andrea Zal?n and Judit B?res

Institute of Forensic Medicine, Network of Forensic Science Institutes, Ministry of Justice and Law Enforcement

The single nucleotide polymorphisms (SNP) and short tandem repeat (STR) markers from NRY (Non Recombination
Y) on Y-Chromosome are proper tools for studying male specific lineage evolution.
The aim of this study is to contribute to the knowledge of Gypsy genetic history by examining 12 Y-STR and
51 Y-SNP loci in two different Roma groups, as well as Hungarians.
Two lineages of the Romani paternal gene pool were identified: Indian ancestral and recent European. The
reduced diversity and expansion signals of H1a-M82 paternal lineages imply descent from closely related
paternal ancestors, who could have settled in the Indian subcontinent.
The recent Romani paternal gene pool is dominated by a specific subset of E1b1b1a-M78, J2*-M172, G2a-
P15 and J2a2-M67 lineages from the Middle East and Anatolia. Additional admixture, evident in the low
and moderate frequencies of typical European haplogroups I1-M253, I2a-P37.2, I2b-M223, R1b1-P25 and
R1a1-M198, took place primarily during early settlement in the Balkans and subsequent influx of them in
the Carpathian Basin.

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Y-Chromosomal Variation In Sub Saharan Africa and The
Bantu Expansion: Insights From Biallelic and Microsatellite
Markers

Cesare De Filippo, Chiara Barbieri, Mark Stoneking, and Brigitte Pakendorf. (Presented by Cesare De
Filippo)

Max Planck Institute for Evolutionary Anthropology, Leipzig, Germany

One of the most significant and well-known human migrations in Sub-Saharan Africa is the Bantu expansion,
which has been associated – although not unanimously – with agricultural innovations and at a later stage
with iron technologies. Bantu languages belong to the Niger-Congo linguistic phylum, and are thought
to have expanded from the area around Cameroon/Nigeria beginning about 5,000 years ago; Bantuspeaking
groups now encompass most of sub-Saharan Africa. Previous studies of African Y-Chromosomal
variation associated haplogroup E-M2 (or E1b1a) with the Bantu expansion. However, the frequency of
EM-2 and associated diversity levels do not differ appreciably between Bantu and other Niger-Congo populations.
Here, we further investigate the Y-Chromosomal footprint of the Bantu expansion by analysing 35
biallelic markers of which three delineate sub-lineages of E-M2, and associated diversity for 12 microsatellites,
in 1234 males from 15 ethno-linguistic groups in Sub-Saharan Africa.
The sub-lineage typing identifies significant haplogroup frequency differences among Niger-Congo Bantu
and non-Bantu groups, where the former showed high frequencies of E-U174 and E-U175. However, there
are no clear geographic patterns associated with the Y-STR haplotype diversity or variance for either E-U174
or E-U175. This suggests that there were no strong bottlenecks associated with the expansion of these haplogroups
throughout Sub-Saharan Africa. Correspondence Analysis and Analysis of Molecular Variance
indicated that groups clustered mainly according to linguistic criteria, and to a lesser extent with geographic
location. Nevertheless, we found that an isolation by distance model could explain the levels of haplotype
sharing among groups (r=0.30, p-value: 0.002).
These results highlight the importance of linguistic boundaries in shaping the paternal demographic history
of Sub-Saharan Africa.