Note: The ESHG site has updated with a notice that the abstracts are embargoed until their presentation time. Therefore, I have decided to remove the body of this post until then, although I think it is a bit weird to embargo something that one places on the public web. In any case, you can find the abstracts easily by going to the site above. (June 1): post restored.
|The peopling of North Asia: Y and X perspectives|
|V. A. Stepanov, V. Kharkov, I. Khitrinskaya, O. Medvedeva, M. Spiridonova, A. Marusin, V. Puzyrev;|
Institute for Medical Genetics, Tomsk, Russian Federation.
|Presentation Number: P07.056|
UPDATE (May 21): I did a quick and dirty analysis of the Y-haplogroup and mtDNA-haplogroup data from Bosch et al. (2006) (Ann Hum Genet. 2006 Jul;70(Pt 4):459-87.), and there is a -0.43 correlation between Y-haplogroup I and mtDNA-haplogroup H and a +0.46 correlation between Y-haplogroup R1 and mtDNA-haplogroup H. While not significant (with only 10 populations), this is definitely in the right direction for a selection effect for/against specific Y-DNA/mtDNA combinations.
... on the other hand, another quick and dirty analysis of 23 populations from Rootsi's survey on Y-haplogroup I and mtDNA frequencies from AJHG Volume 80, Issue 4, April 2007, Pages 759-768 didn't turn up any correlation. Perhaps, someone can look at possible correlations between Y-chromosome and mtDNA haplogroups in Europe to see if anything interesting turns up.
|Male infertility induced by mtDNA/Y unfavorable combination? An association study on human mitochondrial DNA|
|S. C. Gomes1, S. Fernandes2, R. Gonçalves1, A. T. Fernandes1, A. Barros3, H. Geada4, A. Brehm1;|
1Human Genetics Laboratory, University of Madeira, Funchal, Portugal, 2Genetics Department, Faculty of Medicine, University of Porto, Porto, Portugal, 3Centre of Reproductive Genetics A Barros, Porto, Portugal, 4Faculty of Medicine, University of Lisbon, Lisboa, Portugal.
|Presentation Number: P07.084|
|The Bayash Roma: phylogenetic dissection of Eurasian paternal genetic elements|
|I. Martinovic Klaric, M. Pericic Salihovic, L. Barac Lauc, B. Janicijevic;|
Institute for Anthropological Research, Zagreb, Croatia.
|Presentation Number: P07.110|
|Are the Moravian Valachs of Czech Republic the Aromuns of Central Europe? Model population for isolation and admixture|
|E. Ehler1,2, V. Vančata2;|
1Department of Anthropology and Human Genetics, Charles University in Prague, Faculty of Science, Prague, Czech Republic, 2Department of Biology and Ecological Education, Charles University in Prague, Faculty of Education, Prague, Czech Republic.
|Presentation Number: P07.129|
|Phylogeography of the human Y chromosome haplogroup E3a|
|F. Cruciani1, B. Trombetta1, D. Sellitto2, C. Nodale1, R. Scozzari1;|
1Sapienza Università di Roma, Rome, Italy, 2Consiglio Nazionale delle Ricerche, Rome, Italy.
|Presentation Number: P07.134|
|Y-chromosome lineages in Xhosa and Zulu Bantu speaking populations|
|R. P. A. Gonçalves, H. Spínola, A. Brehm;|
Human Genetics Laboratory, Funchal, Portugal.
|Presentation Number: P07.137|
|Human genetic population structure: Patterns and underlying processes|
|Presentation Time: Tuesday, 9:15 a.m. - 9:45 a.m.|
University of Ferrara, Department of Biology and Evolution, Ferrara, Italy.
|Presentation Number: S15.2|
Hierarchical analysis of 28 Y-chromosome SNP’s in the population of the Republic of Macedonia
P. Noveski, S. Trivodalieva, G. D. Efremov, D. Plaseska-Karanfilska;
Macedonian Academy of Sciences and Arts, Research Centre for Genetic Engineering and Biotechnology, Skopje, Macedonia, The Former Yugoslav Republic of.
Presentation Number: P05.211
Analysis of Y-chromosome haplogroups, defined by single nucleotide polymorphisms (SNP’s), has become a standard approach for studying the origin of human populations and measuring the variability among them. Furthermore, Y-SNP’s represent a new forensic tool, because their population specificity may allow to determine the origin of any male sample of interest for forensic purposes. The aim of this study was to develop a strategy for rapid, simple and inexpensive Y-chromosome SNP’s typing in the population of R. Macedonia. We have studied a total of 343 DNA male samples; 211 Macedonians, 111 Albanians and 21 of other ethnic origin (Roma, Serbs and Turks). Methodology included multiplex PCR and single nucleotide extension reaction by SNaPshot multiplex kit. The set of 28 markers has been grouped in 5 multiplexes in order to determine the most frequent haplogroups using only 1 or 2 multiplexes. Twenty different Y haplogroups were determined among 343 male DNA samples. The finding that five haplogroups (E3b1, I1b1, J2b1a, R1a and R1b) comprise more than 70% of the Y chromosomes is consistent with the typical European Y chromosome gene pool. The distribution of the Y-haplogroups differs between Macedonians and Albanians. The most common Y haplogroup among Macedonians is I1b1 (27.5%), followed by three haplogroups present with similar frequencies E3b1 (15.6%), R1a (14.2%) and R1b (11.4%). Among Albanians the most frequent Y haplogroup is E3b1 (28.8%), followed by R1b (18.0%), J2b1a (13.5%) and R1a (12.6%).
The following paper (probably) refers to a recent study, according to which:
One of the most elevated values of 35delG prevalence corresponds to Greece (1/28); the pattern of various 35delG prevalences is interpretated in the present meta-analysis as the result of Ancient Greek colonizations of the "Magna Grecia" in historical times.Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population
H. Kokotas1, L. Van Laer2, M. Grigoriadou1, V. Iliadou3, J. Economides4, S. Pomoni1, A. Pampanos1, N. Eleftheriades5, E. Ferekidou6, S. Korres6, A. Giannoulia-Karantana7, G. Van Camp2, M. B. Petersen1;
1Institute of Child Health, Athens, Greece, 2University of Antwerp, Antwerp, Belgium, 3AHEPA Hospital, Thessaloniki, Greece, 4‘Aghia Sophia’ Children’s Hospital, Athens, Greece, 5St. Loukas Hospital, Thessaloniki, Greece, 6Athens University, Athens, Greece, 7Athens University Medical School, Athens, Greece.
Presentation Number: P06.080
Approximately one in 1,000 children is affected by severe or profound hearing loss at birth or during early childhood (prelingual deafness). Up to forty percent of autosomal recessive, congenital, severe to profound hearing impairment cases result from mutations in a single gene, GJB2. The 35delG mutation accounts for the majority of GJB2 mutations detected in Caucasian populations and represents one of the most frequent disease mutations identified so far. Some previous studies have assumed that the high frequency of the 35delG mutation reflects the presence of a mutational hot spot, whilst other studies support the theory of a common founder. Greece is amongst the countries presenting high frequency of the 35delG mutation (3.5%), and a recent study raised the hypothesis of the origin of this mutation in ancient Greece. We genotyped 60 Greek deafness patients homozygous for the 35delG mutation for six single nucleotide polymorphisms (SNPs) and two microsatellite markers, mapping within or flanking the GJB2 gene, as compared to 60 Greek hearing controls. A strong linkage disequilibrium was found between the 35delG mutation and markers inside or flanking the GJB2 gene, at distances of 34 kb on the centromeric and 90 kb on the telomeric side of the gene, respectively. Our study supports the hypothesis of a founder effect and we further propose that ethnic groups of Greek ancestry could have propagated the 35delG mutation, as evidenced by historical data beginning from the 15th century BC.