Migration of the Walser population

Migrations in prehistoric and protohistoric man are responsible for the genetic similarity observable in recent populations. As a consequence of these early migrations, small groups were founded and the resultant genetic drift and isolation were often involved in the differentiation of some populations. The Walsers of the Grisons (Switzerland) present a good example of these inter-related population-genetic phenomena: migration was the major determinant of the relatedness of the gene pool in all Walser populations. This can be proven by allele frequencies, and most convincingly by electrophoretic variants which are only shared by closely related Walser groups. This statement demonstrates clearly the congruence of the genetics and well-documented population history of the Walsers. Incidentally, blood genetic and demographic data support the hypothesis that a genetical cline exists in the valley of Safien from south to north. This is in accordance with the historical data describing the peopling of the valley by Rheinwald Walsers in the 14th to the 16th century.     

Gene frequency of ceruloplasmins in Swiss populations (North Swiss, Valais valley populations and Valais)

Coeruloplasmin has been studied on 3051 individuals from Swiss populations. The C*PA frequencies of 0.0050 reported for Northern Switzerland as well as for the Upper Rhone Valley (Brig, Goms) and the Visp Valleys (Valais) are in the range of those of other European populations. In the village of T?rbel and in the L?tschental (both Canton of Valais) the C*PA frequencies are somewhat lower. The individuals from the French speaking part of Valais showed only the C*PB allele. The fixation of the C*PB allele in the Walser of the Safiental (The Grisons) can be explained under the assumption of founder effect or of genetic drift. A new CP variant (C*PW) is described.     

Genetic polymorphisms in three Alpine populations (Visp valleys,Switerland)

Phenotype distributions and allele frequencies of 13 blood proteins are presented for the populations of the three Visp valleys, situated in the Swiss Alps. Blood samples of a total of 883 individuals were electrophoretically analysed. The three populations were statistically compared with each other, and with an additional sample from the literature thought to be representative of the entire Swiss population. Statistical differences are revealed and genetic distances are presented. These results are interpreted in connection with differences between the Visp valleys in topological situation.     

Geographical variation of allele frequencies at the LDH-A* locus in the arctic grayling Thymallus arcticus Pall. and in the European grayling Thymallus arcticus L

The allele frequencies of LDH-A* locus were studied in the population of Siberian grayling from the Kozhym River (Pechora basin) and in the population of European grayling from Pechora, Mezen', and Vym' rivers (Northern Dvina basin). In samples of both species (n = 134), three LDH-A phenotypes have been identified in total, which proved to be under the control of two alleles: LDH-A*100 and LDH-A*50. The alternative alleles of LDH-A* locus were identified in the populations of Siberian grayling from Kozhym River and in the population of European grayling from the same river and other Pechora tributaries, namely, LDH-A*100 and LDH-A*50 in the Siberian and the European grayling, respectively. However, in the European grayling populations from the Mezen' and Vym' rivers, both alleles occur at the frequencies of the rare LDH-A*100 allele of 0.143 and 0.222, respectively. According to the published data, the frequency of LDH-A*100 allele increases in the European grayling populations of northwestern (Finland) and southern (France) rivers, reaching 0.872 and 1.000 in Rhone and Loire, respectively, i.e., the values characteristic of the Siberian grayling populations.     

Alpha-1-antitrypsin (Pi) subtypes in the Spanish Basque provinces

Alpha-1-antitrypsin subtypes were studied in resident (644) and native (222) individuals from the Spanish Basque Country. The gene frequencies were similar to those in other Spanish populations but the isolated valley of Arratia deviated significantly with increased frequencies of the M2 and M3 alleles and a decrease of the M1 allele.     

The migration of beech (Fagus sylvatica L.) up the Rhone: the Mediterranean history of a “mountain” species

New anthracological data on the beech (Fagus sylvatica L.), obtained through rescue excavations, allows the proposal of a new pattern of population by beech of the South of France since the Lateglacial. Due to its current ecology and distribution it is considered to be a mountain species in the Mediterranean area despite the presence of beech forests, usually described as glacial relicts, at low altitudes in the South of France and in the Rhone valley (Sainte-Baume, Valbonne and Grand Fays). Our results, combined with previous pollen and charcoal data, show both an early spread from glacial refuges and a late disappearance of the species. During the glacial period, the beech remained in the southernmost zones. From there, it first spread during the Preboreal towards outposts in the Rhone delta, and during the Atlantic along the rhodanian corridor. During the Subboreal, a retreat of beech towards the Pre-Alps and the Rhone delta can be traced. The Iron Age and the Classical period experienced the maximal concentration of beech along the Rhone river, while it became more rare in the North and in the South. During the Middle Ages, it first disappeared from these distal areas, and later also in the valley (around A.D. 1000), finally settling in its present mountainous distribution area (probably around the 14th century A.D.). Some crucial points of the proposed dynamics are further analysed: the paradoxical regression of beech in the valley during the Subboreal, the factors determining the expansion of beech from refuge areas during the Subatlantic and finally, the disappearance of the beech in the middle Rhone valley in rather recent times, a disappearance attributed to the strong human impact on the landscape.Electronic Supplementary Material Supplementary material is available in the online version of this article at     

Geographical Variation of Allele Frequencies at the LDH-A* Locus in the Arctic Grayling Thymallus arcticus Pall. and in the European Grayling Thymallus thymallus L.

The allele frequencies of LDH-A* locus were studied in the populations of Siberian grayling from the Kozhym River (Pechora basin) and in the population of European grayling from Pechora, Mezen', and Vym' rivers (Northern Dvina basin). In samples of both species (n = 134), three LDH-A phenotypes have been identified in total, which proved to be under the control of two alleles: LDH-A*100 and LDH-A*50. The alternative alleles of LDH-A* locus were identified in the populations of Siberian grayling from Kozhym River and in the population of European grayling from the same river and other Pechora tributaries, namely, LDH-A*100 and LDH-A*50 in the Siberian and the European grayling, respectively. However, in the European grayling populations from the Mezen' and Vym' rivers, both alleles occur at the frequencies of the rare LDH-A*100 allele of 0.143 and 0.222, respectively. According to the published data, the frequency of LDH-A*100 allele increases in the European grayling populations of northwestern (Finland) and southern Europe (France) rivers, reaching 0.872 and 1.000 in Rhone and Loire, respectively, i.e., the values characteristic of the Siberian grayling populations.     

Transferrin C subtypes and ethnic heterogeneity in Sweden

Transferrin (TF) C subtypes were studied in Swedish Lapps (Saami) and in Swedes from northern, central and southern Sweden, and the allele frequencies were compared with those in other European populations. The Swedish Lapps were found to have the lowest frequency of the TF*C3 allele (1-2%) so far observed in Europe. Most European populations have TF*C3 allele frequencies between 5 and 7%. Finns differ by having high TF*C3 frequencies (13-14%). The relatively high TF*C3 frequencies found in northeastern Sweden (13%) and in central Sweden (9%) are most likely due to eastern influence. Unlike other genetic markers of eastern influence (e.g. TF*DCHI), which are of Asiatic Mongoloid origin, TF*C3 appears to originate from Finno-Ugric populations.     

Temporal variation in the genetic structure of host-associated populations of the small ermine moth Yponomeuta padellus (Lepidoptera, Yponomeutidae)

Temporal changes in allele frequencies were studied in host-associated populations of the small ermine moth Yponomeuta padellus. At one site, populations from three host plants (Sorbus aucuparia, Amelanchier larnarckii , and Crataegus spp.) were sampled annually during a four-year-period and analysed with 20 polymorphic allozyme markers. At two other sites, allele frequencies at 5- 6 enzyme loci of Y. padellus populations from two different host plants were also tested for consistency over a 13-year-pcriod. Significant allele frequency changes occurred in the short-term analysis, whereas allele frequencies remained relatively stable through time in the long-term analyses. Furthermore, allele frequencies of Y. padellus populations from Crataegus spp. were relatively stable compared to the other host populations. The role of the agents responsible for the observed patterns is discussed.     

Postglacial dispersal of longnose suckers, Catostomus catostomus, in the Mackenzie and Yukon Drainages

The role played by stream transfers and reversals in the postglacial dispersal of fish populations in the Yukon and Mackenzie River drainages of Canada was analysed using genetic and meristic data from longnose sucker (Catostomus catostomus Forrester) populations. The hypothesis the suckers dispersed from the Yukon River into the Mackenzie River via the Peel River was evaluated. Meristic data (gill rakers and lateral line scales) were uninformative for this analysis. Genetic affinity between the Yukon River and upper Peel River populations, and between Mackenzie and lower Peel River populations is suggested by transferrin allele frequencies. These affinities support the view that longnose suckers inhabiting the middle and upper regions of the Peel River are derived from Beringian and Mississippian ancestors, while suckers in the lower Peel are descended from Mississippian stock. Evidence for dispersal by way of the Eagle River was not found. Affinities of sucker populations in other river systems in the region are also described.     

Distribution of AB0 and RH blood group alleles in different populations of southern Punjab, Pakistan.

The analysis of a sample of 1632 individuals from patients of the Nishtar Teaching Hospital, Multan, suggests that different ethnic groups (Araeen, Mughals, Syed, Jat, Rajputs, Baloch and Pathan) are not significantly different from another with regard to the distribution of RH blood group alleles (RH*d around 0.30). The distributions of the AB0 blood group alleles suggest that different ethnic groups are not significantly different from the average alele frequencies (AB0*A = 0.23, AB0*B = 0.33, AB0*0 = 0.47) except for the Pathan ethnic group (AB0*A = 0.35, AB0*B = 0.47, AB0*0 = 0.27). The populations of different geographic areas are not significantly different from the average allele frequencies, except for the southern district of Rahim Yar Khan (AB0*A = 0.12) and the northern district of Sahiwal (AB0*A = 0.19). The populations of Sahiwal (RH*d = 0.35) and Muzaffargarh (RH*d = 0.36) yield significantly different allele frequencies at the RH locus. The interpopulation differences can be explained by the geographic distance. There is a significant difference in the frequencies of the AB0 alleles between rural and urban populations, suggesting that rural populations maintain their isolation from urban populations. Rural and urban populations are not significantly different from one another concerning the allele frequencies at the RH locus.     

Impact of gene flow from cultivated beet on genetic diversity of wild sea beet populations

Gene flow and introgression from cultivated plants may have important consequences for the conservation of wild plant populations. Cultivated beets (sugar beet, red beet and Swiss chard: Beta vulgaris ssp. vulgaris) are of particular concern because they are cross-compatible with the wild taxon, sea beet (B.vs. ssp. maritima). Cultivated beet seed production areas are sometimes adjacent to sea beet populations; the numbers of flowering individuals in the former typically outnumber those in the populations of the latter. In such situations, gene flow from cultivated beets has the potential to alter the genetic composition of the nearby wild populations. In this study we measured isozyme allele frequencies of 11 polymorphic loci in 26 accessions of cultivated beet, in 20 sea beet accessions growing near a cultivated beet seed production region in northeastern Italy, and 19 wild beet accessions growing far from seed production areas. We found one allele that is specific to sugar beet, relative to other cultivated types, and a second that has a much higher frequency in Swiss chard and red beet than in sugar beet. Both alleles are typically rare in sea beet populations that are distant from seed production areas, but both are common in those that are near the Italian cultivated beet seed production region, supporting the contention that gene flow from the crop to the wild species can be substantial when both grow in proximity. Interestingly, the introgressed populations have higher genetic diversity than those that are isolated from the crop. The crop-to-wild gene flow rates are unknown, as are the fitness consequences of such alleles in the wild. Thus, we are unable to assess the long-term impact of such introgression. However, it is clear that gene flow from a crop to a wild taxon does not necessarily result in a decrease in the genetic diversity of the native plant.     

The blood groups of the Timuri and related tribes in Afghanistan

The present investigation is a study of the blood groups of the Timuri and related tribes in Afghanistan. There is little historical documentation for the origin of the Timuri. Their name is probably a misnomer, however, since they are apparently not descended from the armies of Timur, or Tamerlane, which invaded Afghanistan during the fourteenth century. Relatively few blood group studies have been carried out on the inhabitants of Afghanistan, so detailed comparisons with other populations can be made only for the ABO system. (Certain populations in Iran to the west and a few rather widely separated populations, such as the Baltis and Nepalis to the east, have been more thoroughly investigated, and comparisons can be made with them on at least seven genetical systems.) The presence of the A₂ allele suggests gene flow from the West, but the high frequency of B is consistent with other populations tested in Afghanistan. The Rh frequencies give little critical information but the low level of cde is suggestive of Mongoloid origin. On the other hand, for the MNS system the high level of MS is typically Caucasoid. The high total M is found in Asia both in Caucasoids and Mongoloids. The presence of the Lu^a allele and the relatively high frequency of the K allele are more Caucasoid than Mongoloid, but the presence of even one Diego (Di^a) positive among the Timuri and related tribes suggests a Mongoloid contribution to the gene pool. The low frequency of P₁, though always a little suspect on travelled specimens, is consistent with this. All of the Iranian populations tested may be regarded as essentially Caucasoid from the blood group point of view. The Baltis and Nepalis show certain Mongoloid characteristics. The Timuri are distinctly more Mongoloid than the former but less so than the latter. In summary, the Timuri appear to be intermediate in allele frequencies between Caucasoid and Mongoloid populations, with unmistakable evidence of both in their ancestry.     

Polymorphism of hordein-coding loci in barley (Hordeum vulgare L.) populations of Iran and Central Asian countries

Starch gel electrophoresis was performed to study polymorphism of hordeins encoded by the Hrd A, Hrd B, and Hrd Floci in 366 local old barley accessions from Iran and Central Asian countries, including Turkmenistan, Uzbekistan, Tajikistan (Mountain Badahsan), and Kirgizia. In total, 60 alleles with frequencies of 0.0003-0.2818 were observed for the Hrd A locus, 106 alleles with frequencies of 0.0003-0.1603 were observed for the Hrd B locus, and five alleles with frequencies of 0.0164-0.4131 were observed for the Hrd Flocus. The alleles and allele frequencies displayed irregular distributions in barley populations of the above countries. Cluster analysis of the matrix of allele frequencies in populations from known collection sites revealed a cluster structure of local barley populations within each country. Local populations formed five differently sized clusters in Iran, six in Turkmenistan, three in Uzbekistan, and three in Kirgizia. The variation and allele frequency distribution of the hordein-coding loci in Iran and Central Asian countries were assumed to result from the introduction and spreading of barley forms via migrations of husbandmen.     

An ill wind: the Foehn in Leukerbad and beyond

The Foehn is a warm, dry, downslope wind found on the lee side of mountains; the type-location for this adiabatic wind is the European Alps. In the Swiss village of Leukerbad, residents are quite familiar with the Foehn, which sweeps regularly through the main Rhone valley from the southeast. Leukerbad, located in a side valley, rarely experiences the full force of the Foehn, but the effects of this wind are well known: people say that the Foehn brings headaches, makes them depressed, invites suicide, and generates a feeling of ill health. In contrast, another wind occurring in this valley, the Gemmiwind – which comes over the Gemmi pass into Leukerbad from the north – is known only as a cold wind. Drawing on ethnographic data and literary representations as well as biomedical and meteorological analyses, we consider the meanings of the Foehn as it has penetrated the bodies and minds of mountain inhabitants in Switzerland and beyond.     

Inter and intra-ethnic differences in the distribution of the molecular variants of TPMT, UGT1A1 and MDR1 genes in the South Indian population

Molecular variants of polymorphic drug metabolizing enzymes and drug transporters are attributed to differences in individual's therapeutic response and drug toxicity in different populations. We sought to determine the genotype and allele frequencies of polymorphisms for major phase II drug-metabolizing enzymes (TPMT, UGT1A1) and drug transporter (MDR1) in South Indians. Allelic variants of TPMT (*2,*3A,*3B,*3C & *8), UGT1A1 (TA)6>7 and MDR1 (2677G>T/A & 3435C>T) were evaluated in 450-608 healthy South Indian subjects. Genomic DNA was extracted by phenol-chloroform method and genotype was determined by PCR-RFLP, qRT-PCR, allele specific PCR, direct sequencing and SNaPshot techniques. The frequency distributions of TPMT, UGT1A1 and MDR1 gene polymorphisms were compared between the individual 4 South Indian populations viz., Tamilian, Kannadiga, Andhrite and Keralite. The combined frequency distribution of the South Indian populations together, was also compared with that of other major populations. The allele frequencies of TPMT*3C, UGT1A1 (TA)7, MDR1 2677T, 2677A and 3435T were 1.2, 39.8, 60.3, 3.7, and 61.6% respectively. The other variant alleles such as TPMT*2, *3A, *3B and *8 were not identified in the South Indian population. Sub-population analysis showed that the distribution of UGT1A1 (TA)6>7 and MDR1 allelic variants differed between the four ethnic groups. However, the frequencies of TPMT*3C allele were similar in the four South Indian populations. The distribution of TPMT, UGT1A1 and MDR1 gene polymorphisms of the South Indian population was significantly different from other populations.     

Analysis of polymorphism of CTG repetitive sequences in the gene of myotonic dystrophy in human populations of the Volga-Ural region]

Distribution of CTG repetitive sequences in the myotonic dystrophy (MD) gene was analyzed in ten populations of the Volga-Ural region, including Tatars, Chuvashes, Maris, Udmurts, Mordovians, Komis, and four ethnogeographical groups of Bashkirs. A total of 25 alleles were found (9 to 14 in individual populations), with each allele containing 5 to 34 trinucleotide repeats. The allele frequency distribution had two peaks corresponding to alleles with 5 and 11-14 CTG repeats. The frequency of the (CTG)5 allele varied from 0.23 to 0.47 in Maris and Mordovians, respectively. Regarding the (CTG)11-14 alleles, those containing 13 and 12 trinucleotides were most frequent in all populations; their frequencies varied from 0.15 in Mordovians to 0.24 in Maris and Bashkirs from the Abzelilovskii raion (district). Alleles with large numbers of repeats (more than 30) were only found in Tatars and Bashkirs from the Abzelilovskii raion, where their frequency was 0.01. The data obtained were compared with those on other human populations from various regions of the world. In general, the populations of the Volga-Ural region took an intermediate position between European and Asian populations (although were somewhat more similar to the latter ones) with respect to the distribution of allelic frequencies of the CTG repetitive sequences. In individual populations, the number of genotypes varied from 13 to 27 in Mordovians and Bashkirs from the Ilishevskii raion, respectively. The observed heterozygosity was the highest (91%) in Udmurts and the lowest (58%) in Mordovians; the average heterozygosity was 81%. Such a high heterozygosity, as well as the revealed differentiation of the populations with respect to the distribution of the allelic frequencies of CTG repetitive sequences in the MD gene, allow this polymorphic DNA locus to be considered a highly informative genetic marker of populations.     

Response to natural and laboratory selection at the Drosophila hsp70 genes

Abstract.— To determine whether and how laboratory and natural selection act on the hsp70 (70-Kd heat-shock protein) genes of Drosophila melanogaster , we examined hsp70 allele frequencies in two sets of populations. First, five populations reared at different temperatures for more than 20 years differentially fixed both a large insertion/deletion (indel) polymorphism at the 87A7 hsp70 cluster ("56H8"/"122") and a single nucleotide polymorphism at the 87C1 hsp70 cluster. In both cases, the 18°C and 25°C populations fixed one allele and the 28°C populations the other, consistent with previously described evolved differences among these populations in Hsp70 expression and thermo-tolerance. Second, we examined 56H8 and 122 frequencies in a set of 11 populations founded from flies collected along a latitudinal transect of eastern Australia. The 56H8 allele frequencies are positively associated with latitude, consistent with maintenance of the 56H8/122 polymorphism by natural selection. Thermal extremes and average values are negatively correlated with latitude. These results suggest that natural selection imposed by temperature and thermal variability may affect hsp70 allele frequencies.     

Blood groups and natural selection by genetical environment

A survey is given of a number of investigations indicating the importance in natural selection of the genetical environment of populations and individuals.In the introduction it is observed that blood group frequency patterns are very stable, even in very small populations, and appear independent of environmental factors. They appear to be race-specific, maintained by a process of natural selection which is dependent of the racial genetical composition. Indications in favour of this hypothesis are obtained from several studies carried out in populations of mixed origin:The introduction on a small scale into the populations of New Guinea of foreign elements with some S genes may result in a population with relatively high S frequencies; the frequencies of certain of the blood group genes in the mixed negroid populations of Curaçao are not in agreement with the racial compositions of the mixtures as they have been calculated from the frequencies of other blood group genes, and the same appears to be the case in the populations of the Himalayas. The marked variation of MNSsHe frequencies in Africa may perhaps be explained by a powerful selective pressure exercized by the genetical backgrounds of the various populations, as is demonstrated by the absence of some expected genotypes among male Bush Negroes in Surinam.The effects of natural selection by genetical environment can also be demonstrated by family studies:In families with elliptocytosis Rhesus segregation shows some deviation from Mendelian laws, and the ratio of elliptocytosis-positive and-negative children appears to depend on the Rh genotype of the elliptocytosis-positive parent. From blood group studies in selected pedigrees and dizygotic twins it appears that twin pairs are more often doubly concordant for both MN and Rh than is to be expected.Some implications of the observed effects of natural selection in the study of human genetics and population dynamics are briefly discussed.     

Four DNA polymorphisms on the short arm of the X chromosome: allele frequencies in a German and in a Turkish population

Four restriction fragment length polymorphisms, revealed by cloned arbitrary X chromosome segments (L1.28, RC8, pD2, 754) were studied in samples (50 individuals each) of a German and a Turkish population. All previously reported alleles of these polymorphisms were found in both populations, except the infrequent RC8 allele B3 (3.0 kb fragment), which was absent in both groups. The observed minor alleles were found to be rarer in the German series than in the Turkish group, but there was no conclusive evidence of essentially different allele frequencies in either population. However, the frequencies of the RC8 allele B2 (5.3 kb fragment) were differing at the 5% significance level. The allele frequencies of the four polymorphisms are presented and compared with those reported from other European regions.