June 2010 (82:3)
Table of Contents
 Interview with Professor Luigi Luca Cavalli Sforza
Franz Manni
Luigi Luca Cavalli-Sforza (M.D. Pavia 1944), has started doing research on sex in bacteria and on the origin of resistance to antibiotics. In the early fifties he has moved to research in human population genetics and evolution, showing the major role plaid by random genetic drift, and how to take into account this evolutionary factor for a better reconstruction of the evolutionary origin of human populations. To this end, he analyzed a great variety of genetic data, from blood groups and proteins to mitochondrial and Y-chromosome DNA. Later he investigated the variability of microsatellites, and SNPs megachips. All these markers gave coherent conclusions about Human history and corroborated the Out of Africa model that he largely contributed to demonstrate.
Among his major achievements, he initiated the investigation of human evolution through a multi-disciplinary approach that includes genetics, demography, anthropology, archeology and linguistics which, among other things, led to the establishment of important parallelisms between genetic and linguistic variability on a global scale.
Cavalli-Sforza largely contributed to start a worldwide collection of cell lines representing many aboriginal populations in what is known as the Human Genome Diversity Project (HGDP). The cell lines are maintained at the CEPH-Fondation Jean Dausset in Paris and are intended to provide large amount of DNA for current genetic investigations and more than a hundred laboratories have used them. With a similar approach, Cavalli-Sforza is currently generating an Italian Genome Project for helping research in medical genetics.
Among other projects, he is the general Editor of “La Cultura Italiana” [The Italian Culture], an ambitious encyclopedic work that he has conceived and that will consist of twelve volumes published by UTET (Turin, Italy). This work, almost completed, will hopefully translated in English as it was intended to provide an historic and cultural background of their homeland to Italian Americans.
Luigi Luca Cavalli-Sforza can be considered as one of the fathers of modern human population genetics. His works had, and still have, a profound influence on genetic and anthropological research.
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 Mitochondial DNA diversity in Mennonite communities from the Midwestern United States
Phillip E. Melton, MJ Mosher, R. Rubicz, M. Zlojutro, MH Crawford
This study examined mitochondrial DNA (mtDNA) variation in six Mennonite communities from Kansas (Goessel, Lone Tree, Garden View, Meridian, and Garden City) and Nebraska (Henderson) in order to determine their genetic structure and its relationship to population history. Mitochondrial DNA haplogroup and haplotype information were obtained for 118 individuals from blood samples. Molecular genetic variation was analyzed using diversity measures, neutrality test statistics, spatial analysis of molecular variance (SAMOVA), and multidimensional scaling plots. The Mennonite samples exhibited eight western European mtDNA haplogroups – H, HV0, I, J, K, T, U, and X.  Comparable to other populations of European descent, haplogroup H was the most frequent in all six communities and ranged from 35% in Lone Tree to 75% in Old Order Mennonites from Garden City, Kansas. A total of 58 different mtDNA haplotypes were found in these groups with only one shared among all six populations. Haplotype diversities varied from 0.81 in Goessel to 0.96 in Henderson and Garden View. Multivariate statistical analysis of these populations indicates that these Anabaptist communities formed new congregations by fissioning along familial lines. Population subdivision of these communities into congregations support previously documented patterns of fission-fusion. In conclusion these haploid molecular data provide a more accurate reflection of biological relationships between Midwestern Mennonite communities than evidence based on classical genetic markers.
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HTTLPR polymorphism: analysis in South African autistic individuals
Zainunisha Arieff, Mandeep Kaur, Hajirah Gameeldien, Lize van der Merwe, Vladimir B Bajic
The serotonin transporter promoter length polymorphism (5-hydroxytryptamine transporter length polymorphism, 5-HTTLPR) has long been implicated in autism and other psychiatric disorders. The use of selective serotonin reuptake inhibitors (SSRIs) have shown to have a positive effect in treating some symptoms of autism. The effects of these drugs vary in individuals due to the presence of S or L alleles of 5-HTTLPR. Studies performed on various autistic populations have found different allele frequencies for the L and S alleles. Allelic frequencies and genotypes of the South African (SA) autistic populations (African, Mixed and Caucasian) were compared with the matching SA ethnic control populations. The S/S genotype was found to be highly significantly associated with all the SA autistic ethnic populations. In the SA African population the S/S genotype was present in 7 (33%) of the autistics but not at all in the controls, yielding infinitely large odds of developing autism. The odds of developing autism with the S/S genotype compared to the L/L genotype was multiplied 10.15-fold in the SA Mixed and 2.74-fold in the SA Caucasian population. The allele frequency of the SA autistic population was also compared with studies of other autistic populations round the world and highly significant differences were found with the Japanese, Korean and Indian population groups. The difference was not significant for the French, German, Israeli, Portuguese and the American groups. This is the first SA study of autistic individuals of different ethnic backgrounds showing significant differences of the allele and genotype frequencies of the 5-HTTLPR. The result of this study opens new avenues to investigate the role of transmission of the L and S allele in families with autism in SA.
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The Genetic Structure of a Rural Region in Spain: Distribution of Surnames and Genetic Flow.
Roberto Rodriguez Diaz, Maria José Blanco-Villegas
The study of isolated populations with a subsistence economy is of special interest regarding biodemography. The reason is that the conditions to which they have been subjected are similar to those present over a large part of the history of our species, and hence the conclusions drawn can be extrapolated to other similar populations. In the present work, two recently employed techniques were deployed  (SOM and Monmonier) to study the genetic structure of a small rural region: Fuentes Carrionas (Province of Palencia, Spain). The study was based on the information contained in the marriages contracted and family reconstructions for the period between 1880 and 1979. The coefficients of relationships (Hedrick) were calculated among the parishes (by isonymy and parent-offspring matrix) and their relationship with geographical distances (Mantel) was studied. Then, using Monmonier’s algorithm the genetic barriers were examined. Finally, applying Self-Organizing maps, a study was made of the distribution of surnames.
The correlation between genetic distance matrices estimated through surnames and genetic flow was high (p<0.01) and geographical distance was found to be significantly related to both (p<0.01); it therefore seems to be the main factor of isolation. However, the genetic barriers studied revealed a region divided into two, and the surname  distribution displayed an identical division: 29.56% appeared almost exclusively in the north-eastern half and 21.91% in the south-west. Both techniques afforded coherent and complementary results. Their combined use allows a very detailed study to be made. Although geographical distance was seen to be the most determining factor, others factors were detected (orographic and socio-economic) that seem to have marked the genetic structure of Fuentes Carrionas.
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 Craniometric Similarities Within And Between Human Populations as in Comparison with Neutral Genetic Data.
André Strauss, Mark Hubbe
The statement that pairs of individuals from different populations are often more genetically similar than pairs from the same one is a widespread idea inside and outside the scientific community. Witherspoon et al. (2007) proposed an index called “dissimilarity fraction” (ω) to access in a quantitative way the validity of the above statement for genetic systems. As demonstrated by him, as the number of loci increases ω decreases to the point that when enough sampling is available the above statement is false. In this study, we applied the same index on Howells’ craniometric database in order to establish whether or not similar results are obtained for cranial morphological traits. While in genetic studies thousands of loci are available, Howells’ database provides no more than 55 metrical traits, making the contribution of each variable very important. To cope with this limitation, a routine that take this effect into consideration was developed for calculus of ω. Distinct to what was observed for the genetic data, our results show that cranial morphology reaches a mean asymptotically ω near 0.3 and therefore supports the initial statement, i.e. that individuals from the same geographic region do not form clear and discrete clusters, further questioning the idea of the existence of discrete biological clusters in the human species. Finally, assuming that cranial morphology is under an additive polygenetic model it is possible to state that the population history signal of human craniometric traits presents the same resolution as neutral genetic system dependent of no more than 20 loci.
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History of Human Biology (1929-2009).
Michael H. Crawford
The journal Human Biology was founded 80 years ago by Raymond Pearl, an eminent biologist and Professor of Biometry and Vital Statistics at Johns Hopkins University. In celebration of the 80th anniversary of the founding of this journal, I was invited by Franz Manni (Executive Editor) to update a previously published history of Human Biology on the 75th anniversary of its founding (Crawford, 2004).  In the 1989 special issue titled “Foundations of Anthropological Genetics,” Gabriel W. Lasker had compiled an earlier historical account of the journal. Additional comments about the circumstances surrounding his acceptance of the editorship of Human Biology in 1953 and early years of his editorship are contained in Chapter 12 of Lasker’s memoirs, Happenings and Hearsay (Lasker 1999). In this review of the history of Human Biology I place greater emphasis on the periods that I know best, that is, from 1988 to the present, when I was the editor-in-chief, consulting editor or the liaison between the sponsoring organization American Association of Anthropological Genetics (AAAG) and the current triumvirate of editors. I have also provided (1) a time line of the significant events associated with 80 years of publication of this distinguished journal and (2) an analysis of the changes in topical coverage and focus from 1929 to the present.
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Brief  Communication
Modification of a commercially available kit for the improvement of PCR efficiency.
Ai Hua Zhang, Seung Bum Seo, Jin A YI, Hye Yeon Kim, Soong Deok Le
The polymorphism of short tandem repeat (STR) is commonly used for human identity testing. Many commercial kits are available for this purpose, in which multiplex PCR for 10 – 16 STRs are usually used. For optimal results, the kits recommend rather limited conditions, which not all forensic samples can satisfy. We increased the efficiency of several commercial kits by modifying the components and reaction parameters (primer concentration and cycle number, and annealing and extension time). To simulate LCN, 1:10- and 1:100-diluted samples, when compared to recommended concentration, were used. A change in cycle number, annealing and extension time, and primer concentration showed various results. Fine tuning of PCR conditions by combining the above changes, decreasing the primer concentration, and increasing the annealing and extension time, together with increasing the cycling number, dramatically increased the efficiency of the reaction, even in LCN-simulated samples. Detailed information for several kit components or kits with different component targeting difficult sample conditions would be of great help in forensics, including LCN.
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August 2010 (82:4)
June 2010 (82:3) In press
April 2010 (82:2)
February 2010 (82:1)
October-December 2009 (81:5-6)
Special Issue on the Lasker Prize winning articles 1992-2005
August 2009 (81:4)
April-June 2009 (81:2-3)
Special Issue on « Demography and Cultural Macroevolution »
February 2009 (81:1)
December 2008 (80:6)
October 2008 (80:5)
August 2008 (80:4)

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