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Y-chromosome diversity in Central Africa. Aussois, September 2005. Gemma Berniell-Lee , Jaume Bertranpetit, David Comas. Inherited via the father. No recombination. Variation passed on in the form of a block. THE Y CHROMOSOME. A HAPLOID SYSTEM. Set of alleles for a number of STRs.
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Y-chromosome diversity in Central Africa Aussois, September 2005 Gemma Berniell-Lee, Jaume Bertranpetit, David Comas
Inherited via the father No recombination Variation passed on in the form of a block THE Y CHROMOSOME A HAPLOID SYSTEM
Set of alleles for a number of STRs Set of alleles for a number of SNPs THE Y CHROMOSOME STRs and SNPs TACGTAGCTAGCTAGCTAGCTAATGCAC TTCGTAGCTAGCTAGCTAATGCACGCTA TACGTAGCTAGCTAGCTAGCTAATGCAC TTCGTAGCTAGCTAGCTAATGCACGCTA TACGTAGCTAGCTAGCTAGCTAATGCAC TTCGTAGCTAGCTAGCTAATGCACGCTA HAPLOTYPES HAPLOGROUPS
EBF MULTIPLEX DYS 388 DYS 389 I/II DYS A7.1 DYS A7.2 DYS 385 DYS 390 DYS 391 DYS 392 DYS 434 DYS 435 DYS 436 DYS 437 DYS 438 DYS 439 DYS 462 DYS 393 DYS 19 MSI MULTIPLEX CTS MULTIPLEX METHODS
RESULTS GENETIC DIVERSITY INDICES
RESULTS 9 11 20 22 12 10 12 14 16 14 FOUNDER BANTU HAPLOTYPE Thomas et al.(2000) DYS 391 DYS 390 DYS 393 DYS 392 DYS 19 13 10 21 11 15 Pereira et al.(2002) described three one-step neighbour haplotypes High frequencies of founder Bantu haplotype and its one-step neighbours in all Bantu populations and identified 3 new ones. Founder Bantu haplotype in 2 pygmy samples and a one-step neighbour in one pygmy sample.
RESULTS POPULATION GENETIC RELATIONHIPS Multidimensional Scaling Plots of RST genetic distances Stress 0.11
RESULTS Stress 0.08 POPULATION GENETIC RELATIONHIPS Multidimensional Scaling Plots of RST genetic distances
RESULTS POPULATION STRUCTURE
RESULTS PHYLOGENETIC RELATIONSHIPS Phylogenetic network of Y-chromosome haplotypes carrying the allele 13.2 of DYS 385 Estimated date of appearance ~5,500 +/- 1,300 years ago.
CONCLUSIONS Bantu populations from Central Africa are very homogeneous, whilst Pygmy populations seem to be quite diverse. Bantu populations are statistically different from Pygmy populations Evidence of possible admixture events between Pygmy and Bantu populations, pointing towards a Bantu-to-Pygmy flow of paternal lineages No evidence of the Fang population or any of the Bantu populations in our sample set having an origin other than Bantu
FUTURE WORK FUTURE WORK Define genetic diversity present at Y-SNP level 48 Y-SNP multiplex reaction