Abstracts From the ASHG2008Meeting

Human Genetics is having its The American Society of Human Genetics is having its第58道Annual Meetingin November.ÂAs I was looking through the meeting abstracts，Inoticed that there were a number of abstracts that dealt with topics related to genetic genealogy.for most of them，I did include a link for further investigation.Â（Note:I got this idea fromDienekes’Anthropology Blog）。

Interestingly，the first five abstracts all include researchers from the Sorenson Molecular Genealogy Foundation，showing how much the Foundation is providing to the genetic genealogy community。

Also very interesting is the final abstract which argues that genetic genealogy，in combination with large-scale genomic analyses，will result in reduced privacy。

“By contributing samples and information to repositories specializing in genetic genealogy，individuals make important contributions to our collective knowledge，but they do so at the risk of revealing personal information shared by unwitting relatives.”

Allocation of YSTR Microvariant Alles to Y-Chromosome Binary Haplogroups。 A.L.Pollock，K.Ritchie，P.A.Underhill，A.A.Lin，S.R.Woodward，U.A.Perego，N.M.Myres

â€To identify YSTR microvariant alleles potentially useful for elucidating further phylogenetic substructure within binary haplogroups，we have assessed the haplogroup affiliation of microvariant alleles found at informative frequencies in public YSTR databases for the following YSTR loci:DYS385，DYS392，DYS441，DYS446，DYS447，DYS449and DYS464.We rehaport plogroup affiliations for each variant als and each variant ale and reach ative samples.”Read more here…

L1c2a，the（African）Haplogroup With The Longest Mitochondrial Genome！ K.Ritchie，U.A.Perego，A.Achilli，N.Angerhofer，N.M.Myres，A.Torroni，S.R.Woodward

墀€墀\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026#\u0026。Asmall subset of these particularly long mtDNA haplotypes shared an identical insertion of 15 bases.”Read more here…

The mitochondrial DNA landscape of modern Mexico。 A.Achilli，U.A.Perego，J.E.Gomez-Palmieri，R.M.Cerda-Flores，K.H.Ritchie，A.Pollock，N.Angerhofer，A.Escobar-Mesa，A.Torroni，N.M.Myres，S.R.Woodward，Sorenson Molecular Genealogy Foundation，SLC，Utah（USA）

â€Analysis of the mitochondrial DNA（mtDNA）control region sequences，including HVS-I，HVS-II and HVS-III，from more than2000 subjects revealed an overwhelming Native American legacy in the modern Mexican population，with~90%of mtDNAs belonging to the four major pan-American haplogroups A2，B2，C1 and D1.This finding supports a European contribution to the Mexican gene pool primarily by male settlers and confirms the effectiveness of employing the uniparentally-transmitted mtDNA as to reconstruct a country’，™â€Read more here…

The origin of Native Americans from a mitochondrial DNA viewpoint。 U.A.Perego，A.Achilli，L.Milani，M.Lari，M.Pala，A.Olivieri，B.Hooshiar Kashani，J.E.Gomez-Palmieri，N.Angerhofer，A.Pollock，K.H.Ritchie，N.M.Myres，S.R.Woodward，D.Caramelli，A.Torroni

â€Our comprehensive overview of the four pan-American branches of the mtDNA tree suggests a scenario with a human entry and spread into the Americas from Beringia about20000 years ago，and preliminary data raise the possibility that the uncommon five Native American haplogroups might have marked additional migratory events from Asia or Beringia.Overall，through a combined analysis of modern and ancient Native American mtDNA，we are making an effor reconstructing the complex pre-Clumbian history at both macro-and micro-geographic levels.”Read more here…

Mitochondrial DNA footprints in modern Mongolia。 S.R.Woodward，A.Achilli，U.A.Perego，J.E.Gomez-Palmieri，D.Tumen，E.Myagmar，D.Bayarlhagva，K.H.Ritchie，A.Pollock，N.Angerhofer，A.Torroni，N.M.Myres，Sorenson Molecular Genealogy Foundation，SLC，UT（USA）

â€In2007，through a well-planned collection effort，researchers at the Sorenson Molecular Genealogy Foundation and the National University of Mongolia were able to gather over3000 DNA samples，informed consents，and genealogical data throughout the country of Mongolia，including samples from21distinc tribal or ethnic populations.All the samples were sequenced for the three hypervariable segments of the mitochondrial DNA（mtDNA）control region to assess the genetic composition of modern Mongolia.”Read more here…

Early Siberian Maternal Lineages in the Tubalar of Northeastern Altai Inferred from High-Solution Mitochondrial DNA Analysis。 R.Sukernik，I.Mazunin，E.Starikovskaya，N.Volodko，N.Eltsov

墀€墀墀€west墀€（H8，U4b，U5a1，and X2e）and墀€east墀€Eurasian（AandB1）haplogroups derived from macrohaplogroupN，and Siberian derivatives of the macrohaplogroup Midentifiable by subhaplogroup-specific mutations.For example，among the 36 Tubalar mtDNA samples that belong to haplogroup D，10（28%）harbored diagnostic markers of the subhaplogroup D3a shared with the Chukchi and Eskimos。This finding verified at the complete sequence level weattributed to ancient link between early Siberians，who underwent pronounced differentation in the Altai-Sayan region，and some of the Eskimo tribes.”Read more here…

Population Structure in Mongolia from a Mitochondrial DNA Perspective。 L.Pipes，A.A.Pai，D.Labuda，T.G.Schurr

墀€墀墀鐜鐜鐜鐜鐜鐜鐜，we analyzed variation in the mtDNAs of 190 individuals from several Mongolian ethnic groups，including the Uriankhai，Zakhchin，Derbet， Khoton and Khalkha.We screened all samples for phylogenetically informative coding region SNPs and sequenced HVSI to assess control region variation in them.Our data suggest that the mtDNA diversity present in our population is consistent with the general pattern of variation observed in East Asith Assition ast Asips，the for ing C， D and G.Haplogroup variation in Mongolian ethnic groups reveals considerable maternal diversity with a predominance of basal M types.Interestingly，the Mongolians also possessed West Eurasian haplogroups，such as H，J and K，which are not commonly observed in East Asia，even at low frequencies。Read more here…

Genetic History of human populations of East African inferred from mtDNA and Y chromosome analyses。 J.Hirbo，S.Omar，M.Ibrahim，S.Tishkoff

“Our results indicate that East African populations have some of the most ancestral Y chromosome and mtDNA lineages in Africa，suggesting that they may have been an ancient source of dispersion throughout Africa.Additionally， we find evidence for ancient geneflow between East Africa and the Middle East.We also ascertained the effect of the Bantu-expansion and signature of recent migration of Cushitic-speaking groups originating from Ethiopia on peopling of East Africa.”Read more here…

Analysis of mtDNA and Y-chromosome haplogroups in Mexican Mestizos and Amerindian groups。 I.Silva-Zolezzi，B.Z.Gonzalez-Sobrino，J.K.Estrada-Gil，A.Contreras，J.C.Fernandez，E.Hernandez-Lemus，L.Sebastian，F.Morales，R.Goya，C.Serrano，G.Jimenez-Sanchez

墀€Forthis we included genotypic data from 163mt SNPs and 123Y chromosome SNPs present in the Illumina Human1M chip of 450individuals，300mestizos from six states located in different regions:Northern，Central and Southern；and 150individuals from different Amerindian groups，Zapotecos and Mayas）.With this information，we are measuring genetic diversity using Fst and AMOVA analysis.Admixture analysis includes average and individual ancestral contribution estimation estimation using autosol SNPs.Initial results show that in our Mestizomo sample，88%of the mt haplogrouare Ameriandian，B，C or D），and the rest includes European and African lineages.We have identified differences in proportions of each haplogroup in both Mestizos and Amerindians.”Read more here…

Using mtDNA and Y-chromosome for estimating group ancestry:Implications for case-control studies。 K.Stefflova，M.Dulik，A.Pai，A.Walker，T.Schurr，T.Rebbeck

“We examined the possible role of mtDNA and the non-recombining portion of the Y-chr.（NRY）asancestry informative markers（AIMs）for admixed groups（self-identified African Americans（AA）or European Americans（EA））”collected as part of a prostate cancer case-control study.We deply，Hboy，II，36 coding SNPs）and the NRY（37SNPs）in a group of 226 AA cases and controls and compared this group to 206EA cases and controls，and49 Senegaleseâ€We found a sex biased admixture for AA where13.2%of mtDNAs and 34.5%of NRYS were of non-African origin。We also found a small amount of admixture in EA（~3%mtDNA，1.5%NRY）.”Read more here…

New tool（mtPHYL）proposed for phylogenetic analysis of human complete mitochondrial genomes。 N.Eltsov，N.Volodko，E.Starikovskaya，R.Sukernik
â€Thealgorithm which we created was implemented in the mtPHYL。This program reconstructs the phylogenetic trees and calculates the respective ages for the clusters within the tree.It can be used to glean a bulk of entire mitochondrial sequences from GenBank database instantly.In addition，itautomatically categorizes the mutations and identifies affected genes along with their conservation indices and amino acid replacements.Our software may be easily modified to analyze any non-recombining DNA regions.mtPHYL is available from authors upon request（已保护）and atwww.bionet.nsc.ru/labs/mtgenome/programs.html”Read more here…

Ychromosome microsatellite haplotypes in the Hutterite founders。 .Caliskan，I.Pichler，C.Platzer，P.P.Pramstaller，C.Ober

â€Thecurrent population of>12000Schmiedeleut Hutterites are descendants of 38male founders who were born between1700 and 1830in Europe。Only12of these founders，each with a unique surname，have living male descendants related through male-only lineages.DNA samples were available in our laboratory for75 male descendants of 11 of the 12founders，accounting for673independent paternal meioses.We genotyped9microsatellite loci，which included a mean of 6.8（range2-23）males per lineage to evaluate potential relationships between the founders。Fourteen different haplotypes were identified，with an average of3.5（range1-8）pairwise differences between haplotypes。All descendants within each of 9lineages had identical Y haplotypers.Descendents of two of these lineages，2and10，had the same haplotype despite different surnames，suggesting possible relatedness between the founders of these two lineages.â€Read more here…

Genetic variation in tribes of Eastern and North-Eastern India:inference from distribution of Y-chromosomal polymorphisms。 .Borkar，F.Ahmed，F.Khan，S.Agrawal
â€Objectives:To investigate the paternal population history of total607 individuals from nine populations of Eastern and North-Eastern tribes from India。Methods:34 binary markers and 17 short-tandem-repeat loci from the non-recombining part of the human Y chromosome were analyzed by RFLP，Sequencing and Genescanning.Results:The tribal populations were characterized by a diverse set of 15 haplogroups。A single haplogroup（O-M175）accounts for~70norty of Erth mes.”Read more here…

Inferential Genotyping in Mormon Founders and Utah pedigrees。 J.Gitschier
One concern in human genetics research is maintaining the privacy of individuals who contribute samples for investigation.While this concern is raised typically in the context of private medical inforation，Iwould argue thata signficant contributor to loss of privacy may lie with genealogical investigations，as much information is freely available online through a variety of websites，thus facilitating the discovery of genetic relationships.During sabbatical in the laboratory of Chris Tyler-Smith（Wellcome Trust Sanger Center），Igenotyped the Y chromosome of HapMap samples with16 short tandem repeat（STR）markers as well as lineage specific markers to determine whether the Y chromosome genetic information in this sample was consonant with the purported ancestry of the subjects。European descent，I then queried whether the contributors of these samples might be descendents of Joseph Smith and Brigham Young，two founders of the Latter-day Saints.Remarkably，through iterative use of two online archives，FamilySearch and Sorenson Molecular Genetic Foundation，I was able to infer the Y chromosome STR haplotypes of these two founders.Although none of the CEU contributors appeared to be direct descendents of the two men，based on haplotype analysis，I was able to make predictions for the surnames of the CEU participants by the same process.For more than half of the unrelatedes30），at least one exact match was revealed and for 13of these，a single surname was associated.For the remaining14samples，a match was nearly perfect，with only one or two of the microsatellite markers varying，typically by one repeat unit， as might be expected through microsatellite instability within a pedigree.By contributing samples and information to repositories specializing in genetic genealogy，individuals make important contributions to our collective knowledge， but they do so at the risk of revealing personal information shared by unwitting relatives.This problem will be exacerbated as genome-wide markers and sequences，which may bear physical，health and behavioral information，emerge and are employed in genealogical research。