Gm allotypes and racial admixture in two Brazilian populations

Summary The Gm types of 515 inhabitants of Belém and 395 inhabitants of Porto Alegre, Brazil were studied in an attempt to quantitatively estimate ethnic parental contributions. The people from Belém can be characterized as 24% black, 22% Indian, and 54% Caucasian. The Porto Alegre blacks seem to have inherited as much as 53% of their genes from Caucasian ancestors, while the whites living there have inherited 8% of their genes from African ancestors. The admixture values obtained for Belém are very similar if just the Gm system is considered or it plus seven other loci are considered, emphasizing the high efficiency of the Gm markers in such analyses.     

Differential admixture shapes morphological variation among invasive populations of the lizard Anolis sagrei

The biological invasion of the lizard Anolis sagrei provides an opportunity to study evolutionary mechanisms that produce morphological differentiation among non-native populations. Because the A. sagrei invasion represents multiple native-range source populations, differential admixture as well as random genetic drift and natural selection, could shape morphological evolution during the invasion. Mitochondrial DNA (mtDNA) analyses reveal seven distinct native-range source populations for 10 introduced A. sagrei populations from Florida, Louisiana and Texas (USA), and Grand Cayman, with 2-5 native-range sources contributing to each non-native population. These introduced populations differ significantly in frequencies of haplotypes from different native-range sources and in body size, toepad-lamella number, and body shape. Variation among introduced populations for both lamella number and body shape is explained by differential admixture of various source populations; mean morphological values of introduced populations are correlated with the relative genetic contributions from different native-range source populations. The number of source populations contributing to an introduced population correlates with body size, which appears independent of the relative contributions of particular source populations. Thus, differential admixture of various native-range source populations explains morphological differences among introduced A. sagrei populations. Morphological differentiation among populations is compatible with the hypothesis of selective neutrality, although we are unable to test the hypothesis of interdemic selection among introductions from different native-range source populations.     

Third molar agenesis in a trihybrid Brazilian population

The frequency of missing third molars is about eight per cent per quadrant in a sample of 490 males of the mixed White/Negro/Indian population of Natal, Brazil. Absence of the four third molars appears in two per cent of the individuals of the sample. The degree of asymmetry for the trait was not marked. No differences were observed when the persons were separated on morphological grounds as Whites or Negroids suggesting that these segregants may be genetically homogeneous in relation to this and other characteristics.     

Haplotypes of alpha-globin gene regulatory element in two Brazilian native populations

The α‐major regulatory element (α‐MRE), located 40 Kb far upstream of the α‐globin gene cluster on chromosome 16, is involved in the regulation of human α‐globin genes expression. The activity of this element is restricted to a 350‐bp fragment in which several nuclear protein binding sites have been identified. This element is genetically polymorphic and different haplotypes, named A–F, have been determined in seven populations of Europe, Africa, Asia, and Oceania. We describe here the α‐MRE haplotypes found in native Indians from two nonmiscegenated tribes of the north region of Brazil, in Amazonia, the Parakanã and the Xikrin. The A haplotype was predominant in both (70% and 87%, respectively), followed by the B haplotype (30% and 13%, respectively). The haplotype frequency distribution among the Parakanã was similar to that reported for Indonesians and Southeast Asian populations, while the distribution among the Xikrin showed higher similarity to that observed in Indonesians. These results corroborate the existence of genetic affinities between Brazilian Indians and Southeast Asian and Oceanic populations. This was the first investigative work on the α‐MRE polymorphism in South American native populations in general or Brazilian native populations in particular. Am J Phys Anthropol 121:000–000, 2003. © 2003 Wiley‐Liss, Inc.     

Measurement error in racial and ethnic statistics

In the United States, the racial and ethnic statistics published by the National Center for Health Statistics (NCHS) assume that each member of the U.S. population has a race and ethnicity and that if a member is black or white with respect to his risk of one disease, he is the same race with respect to his risk of another. Such an assumption is mistaken. Race and ethnicity are taken by the NCHS to be an intrinsic property of members of a population, when they should be taken to depend on interest. The actual or underlying race or ethnicity of members of a population depends on the risk whose variation within the population we wish to describe or explain.

Allelic frequencies and statistical data obtained from 12 codis STR loci in an admixed population of the Brazilian Amazon

The allelic frequencies of 12 short tandem repeat loci were obtained from a sample of 307 unrelated individuals living in Macapá, a city in the northern Amazon region, Brazil. These loci are the most commonly used in forensics and paternity testing. Based on the allele frequency obtained for the population of Macapá, we estimated an interethnic admixture for the three parental groups (European, Native American and African) of, respectively, 46%, 35% and 19%. Comparing these allele frequencies with those of other Brazilian populations and of the Iberian Peninsula population, no significant distances were observed. The interpopulation genetic distances (F(ST) coefficients) to the present database ranged from F(ST) = 0.0016 between Macapá and Belém to F(ST) = 0.0036 between Macapá and the Iberian Peninsula.     

Estimating the impact of prehistoric admixture on the genome of Europeans

We inferred past admixture processes in the European population from genetic diversity at eight loci, including autosomal, mitochondrial and Y-linked polymorphisms. Admixture coefficients were estimated from multilocus data, assuming that most current populations can be regarded as the result of a hybridization process among four or less potential parental populations. Two main components are apparent in the Europeans' genome, presumably corresponding to the contributions of the first, Paleolithic Europeans, and of the early, Neolithic farmers dispersing from the Near East. In addition, only a small fraction of the European alleles seems to come from North Africa, and a fourth component reflecting gene flow from Northern Asia is largely restricted to the northeast of the continent. The estimated Near Eastern contribution decreases as one moves from east to west, in agreement with the predictions of a model in which (Neolithic) immigrants from the Near East contributed a large share of the alleles in the genome of current Europeans. Several tests suggest that probable departures from the admixture models, due to factors such as choice of the putative parental populations and more complex demographic scenarios, may have affected our main estimates only to a limited extent.     

Genetic polymorphisms in isolated Sherpa populations of Nepal

Data are reported on the incidence of variants in the ABO blood group system, four red cell enzyme polymorphisms, and the PTU taster/non-taster polymorphism in 155 Sherpas and Tamangs living in two villages in the isolated Rolwaling valley in east Nepal. The incidence of phenotype AB was unexpectedly high in one village, as has been reproted insome other high-altitude populations: possible causes are discussed. Each of the other polymorphisms has a different pattern of distribution between the populations studied; the Sherpas' allele distribution in the phosphoglucomutase (PGM) system seems to be distinct from the surrounding populations'. ABO gene frequencies suggest affinities between Sherpas in the study villages and old- and new-clan Sherpa populations, respectively, in Solu and Khumbu.     

Discrete dental traits in four Tlaxcaltecan Mexican populations

Seven hundred dental casts from four Tlaxcaltecan Indian populations of Mexico were analyzed for the incidence of ten discrete dental traits. The populations are of known historical origin, with Cuanalan and Saltillo transplanted from the Valley of Tlaxcala approximately 400 years ago. Given this temporal and geographical separation of these transplanted populations from the parental gene pool, statistically significant morphological divergence was observed. However, varying degrees of admixture with Spanish and possibly African colonists have complicated the interpretation of the results. Shovelling of incisors was shown to be the best discriminator of group differences. Mandibular molar patterns and mandibular incisor extension indicate that Cuanalan is closest to Saltillo while the valley communities, Tlaxcala and San Pablo, are closest to each other.     

Genetic relationships between Amerindian populations of Argentina

A total of 495 individuals from five different Argentinian tribes was examined for variation in 23 blood group and protein genetic systems, and the results were integrated with previous data on some of these systems. These tribes generally present RH * R1, PGM1 * 1, and ACP * A frequencies lower and RH * R2, ESD * 1, and GLO * 1 prevalences higher than those observed in other South American Indian groups. Earlier studies with mitochondrial DNA showed that haplogroup A was present in low frequencies in these tribes, but haplogroup B showed a high prevalence among the Mataco. Average heterozygosities are very similar in the five tribes, while estimates of non-Indian ancestry are generally low. Both the blood group and protein, as well as the mtDNA data sets, divide the five tribes into two groups, and the relationships obtained with the blood group and protein systems are exactly those expected on the basis of geography and language. However, the topology obtained with the mtDNA results was different, possibly due to sampling effects or diverse patterns of exchange between the groups related to sex.     

Gene admixture in ethnic populations in upper part of Silk Road revealed by mtDNA polymorphism

To evaluate the gene admixture on the current genetic landscape in Gansu Corridor (GC) in China, the upper part of the ancient Silk Road which connects the Eastern and Central Asia, we examined mitochondrial DNA (mtDNA) polymorphisms of five ethnic populations in this study. Using PCR-RFLP and sequencing, we analyzed mtDNA haplotypes in 242 unrelated samples in three ethnic populations from the GC region and two ethnic populations from the adjacent Xinjiang Uygur Autonomous Region of China. We analyzed the data in comparison with the previously reported data from Eastern, Central and Western Asia and Europe. We found that both European-specific haplogroups and Eastern Asian-specific haplogroups exist in the Gansu Corridor populations, while a modest matrilineal gene flow from Europeans to this region was revealed. The Gansu Corridor populations are genetically located between Eastern Asians and Central Asians, both of who contributed significantly to the maternal lineages of the GC populations. This study made the landscape of the gene flow and admixture along the Silk Road from Europe, through Central Asia, to the upper part of the Silk Road more complete.     

Methylenetetrahydrofolate reductase gene polymorphisms in 13 Chinese ethnic populations

It has been shown that the polymorphisms of Methylenetetrahydrofolate reductase (MTHFR) gene are associated with susceptibility to several disorders including hyperhomocysteinemia, vascular disease, birth defect, and certain cancers, and exhibit great diversities among various populations. The aim of this study was to investigate the prevalence of two common non-synonymous single nucleotide polymorphisms (i.e., C677T and A1298C) at MTHFR gene in 13 Chinese populations. A total of 1015 healthy individuals from 13 populations distributed widely from north to south in China were studied. DNA samples were isolated from peripheral blood samples and genotyped using polymerase chain reaction-restriction fragment length polymorphism. For C677T polymorphism, the frequency in Chinese of CC homozygous was 42.4%; CT heterozygous was 49.8%; and TT homozygous was 7.9%. For A1298C, AA homozygous was 39.2%; AC heterozygous was 38.6%; and CC homozygous was 22.2%. The allelic frequency of 677T and 1298C was 32.8 and 41.5%, respectively, and each allele frequency had significant variance in 13 Chinese populations. The frequency of the 677T allele among southern populations was 30.7% compared to 38.0% among northeastern and 30.5% among northwestern populations. The difference was statistically significant (p < 0.01). The frequency of 1298C mutation in southerns was 58.9% whereas in northeasterns it was 24.0% and 37.6% in northwesterns. This was also statistically significant (p < 0.01). The MTHFR C677T and A1298C sites were in linkage disequilibrium in the Chinese population revealed by our data.     

Differential admixture in Latin American populations and its impact on the study of colorectal cancer

Genome-wide association studies focused on searching genes responsible for several diseases. Admixture mapping studies proposed a more efficient alternative capable of detecting polymorphisms contributing with a small effect on the disease risk. This method focuses on the higher values of linkage disequilibrium in admixed populations. To test this, we analyzed 10 genomic regions previously defined as related with colorectal cancer among nine populations and studied the variation pattern of haplotypic structures and heterozygosity values on seven categories of SNPs. Both analyses showed differences among chromosomal regions and studied populations. Admixed Latin-American samples generally show intermediate values. Heterozygosity of the SNPs grouped in categories varies more in each gene than in each population. African related populations have more blocks per chromosomal region, coherently with their antiquity. In sum, some similarities were found among Latin American populations, but each chromosomal region showed a particular behavior, despite the fact that the study refers to genes and regions related with one particular complex disease. This study strongly suggests the necessity of developing statistical methods to deal with di- or tri-hybrid populations, as well as to carefully analyze the different historic and demographic scenarios, and the different characteristics of particular chromosomal regions and evolutionary forces.     

2BAD: an application to estimate the parental contributions during two independent admixture events

Several approaches have been developed to calculate the relative contributions of parental populations in single admixture event scenarios, including Bayesian methods. In many breeds and populations, it may be more realistic to consider multiple admixture events. However, no approach has been developed to date to estimate admixture in such cases. This report describes a program application, 2BAD (for 2-event Bayesian ADmixture), which allows the consideration of up to two independent admixture events involving two or three parental populations and a single admixed population, depending on the number of populations sampled. For each of these models, it is possible to estimate several parameters (admixture, effective sizes, etc.) using an approximate Bayesian computation approach. In addition, the program allows comparing pairs of admixture models, determining which is the most likely given data. The application was tested through simulations and was found to provide good estimates for the contribution of the populations at the two admixture events. We were also able to determine whether an admixture model was more likely than a simple split model.     

Genetic admixture and gallbladder disease in Mexican Americans

Gallbladder disease is a common source of morbidity in the Mexican American population. Genetic heritage has been proposed as a possible contributor, but evidence for this is limited. Because gallbladder disease has been associated with Native American heritage, genetic admixture may serve as a useful proxy for genetic susceptibility to the disease in epidemiologic studies. The objective of our study was to examine the possibility that gallbladder disease is associated with greater Native American admixture in Mexican Americans. This study used data from the Hispanic Health and Nutrition Examination Survey and was based on 1,145 Mexican Americans who underwent gallbladder ultrasonography and provided usable phenotypic information. We used the GM and KM immunoglobulin antigen system to generate estimates of admixture proportions and compared these for individuals with and without gallbladder disease. Overall, the proportionate genetic contributions from European, Native American, and African ancestries in our sample were 0.575, 0.390, and 0.035, respectively. Admixture proportions did not differ between cases and noncases: Estimates of Native American admixture for the two groups were 0.359 and 0.396, respectively, but confidence intervals for estimates overlapped. This study found no evidence for the hypothesis that greater Native American admixture proportion is associated with higher prevalence of gallbladder disease in Mexican Americans. Reasons for the finding that Native American admixture proportions did not differ between cases and noncases are discussed. Improving our understanding of the measurement, use, and limitations of genetic admixture may increase its usefulness as an epidemiologic tool as well as its potential for contributing to our understanding of disease distributions across populations. Am. J. Phys. Anthropol. 106:361–371, 1998. Published 1998 Wiley-Liss, Inc.