Estimates of African, European, and Amerindian contributions to the gene pool of 11 predominantly African‐derived South American populations were obtained using five autosomal and one Y chromosome hypervariable loci, as well as mitochondrial DNA (sequences of the first hypervariable segment of the control region, plus two restriction sites and the presence or absence of the CoII/tRNALys intergenic 9‐bp deletion). The three latter characteristics are reported here for the first time for 42 individuals living in three Brazilian populations. Thirty‐eight sequences were identified in these persons; 17 (45%) could be classified as being of African, 4 (11%) of Amerindian, and 2 (5%) of European origin. Evidence for asymmetrical matings in relation to sex and ethnic group was obtained for nine of the 11 populations. The most consistent finding was the introduction of European genes through males, but the results differ in the several communities, indicating the importance of local factors in such interactions. Am. J. Hum. Biol. 11:551–563, 1999. © 1999 Wiley‐Liss, Inc.

Summary The present study investigated four restriction fragment length polymorphisms (RFLPs) in the leptin gene and five short tandem repeats (STRs) in its vicinity in 160 females from a synthetic beef cattle breed (5/8 Aberdeen Angus and 3/8 Nelore), and evaluated possible associations between these markers and reproductive performance. A high level of genetic diversity was observed, STRs being more variable than RFLPs. Heterozygosities ranged from 0.67 to 0.87 in STRs and from 0.12 to 0.49 in RFLPs, suggesting that the selective process applied to the Brangus‐Ibage cattle had not affected the total genetic diversity expected for crossbreeds. Two alleles (IDVGA51*181 and LEPSau3A1*+) seem to increase calving interval (CI) by about 79 and 81 days, respectively. Therefore, selection against carriers of these mutations could improve CI by at least 2 months, despite the seasonality of the mating period employed here. LEPSau3AI system seems to influence weight at first calving (WFC). Heterozygotes (LEPSau3AI*+/LEPSau3AI*−) had higher WFC than LEPSau3AI*−/LEPSau3AI*− homozygote. Selection for animals with this genotype could result in some advantages for post‐calving recovery. CI and WFC are indirect measurements of reproduction reflecting also animal body conditions, and therefore it is difficult to determine whether or not IDVGA51*181 and LEPSau3A1*+ alleles directly affect the reproductive system. Although further analysis of other herds should be performed to confirm these data, the association of genetic markers with better reproductive performance is a very interesting finding and could be used in marker‐assisted selection to improve reproduction in beef cattle.

In admixed populations, genetic contributions from males and females of specific parental populations can be of different proportions due to past directional mating during the process of genetic admixture. In this research paper, we provide evidence of such male- and female-specific differential admixture components of African, European, and American Indian origin in an admixed population from the city of Melo, in the northeastern region of Uruguay. From data on 11 autosomal markers from a sample of 41 individuals of mixed African descent, we estimated 47% African, 38% European, and 15% Amerindian contributions. In contrast, 6 mtDNA site-specific polymorphic markers showed that the mtDNA genome of these individuals was 52% African, 19% European, and 29% Amerindian, while from 3 Y-specific polymorphic sites, we estimated 30% African, 64% European, and 6% Amerindian contributions. We argue that this heterogeneity of admixture estimates results from disproportionate unions of European males with African and American Indian females from which this mixed African population was formed. Also, we argue that the asymmetry of the admixture estimates from the three sets of markers (autosomal, mtDNA, and Y-linked) is a result of the changes in the direction of mating during the history of the population. Implications of such evidence of directional mating are discussed, indicating the need of further demographic data for a quantitative assessment of the impact of directional mating on genetic structure of admixed populations.

Polymorphisms at the TP53, cytochrome P-450 (CYP), and glutathione S-transferase (GST) genes are related to cancer susceptibility and present high diversity in allele frequencies among ethnic groups. This study concerns the CYP2E1, GSTM1, and GSTT1 polymorphisms in seven Amerindian populations (Xavante, Guarani, Aché, Wai Wai, Zoró, Surui, and Gavião). Polymorphic sites at CYP1A1 and TP53 were also studied in the Aché and Guarani tribes and compared with previous results about these systems already obtained in the other populations. The CYP2E1*5B haplotype showed, respectively, the highest and the lowest frequencies already observed in human groups. High frequencies of CYP1A1*2A and CYP1A1*2C alleles and mostly low values of GSTM1*0/*0 and GSTT1*0/*0 genotypes were observed. These data may be interpreted as being due to genetic drift or selection for these high-frequency CYP1A1 alleles and against GST null genotypes during America's colonization. Intrapopulation diversity varied from 0.19 (Guarani) to 0.38 (Surui), and 90% of the total diversity was due to the variability within populations. The relationships between these Amerindians and with other ethnic groups were evaluated based on D(A) distances and the neighbor-joining method. Low correlation was observed between genetic relationships and geographic distances or linguistic groups. In the TP53 comparison with other ethnic groups, Amerindians clustered together and then joined Chinese populations. The cluster analysis seems to indicate that the Aché tribe might descend from a Gê group that could have first colonized that Paraguayan region, but had also assimilated some amount of the Guarani gene pool, maybe through intertribal admixture.

Results concerning HLA types and 22 other blood genetic systems are reported for the Parakanã Indians of northern Brazil, a tribe that is notable for the light color and pilosity of some of its members. No clear evidence of Caucasoid admixture was found, but the Parakanã show unusual frequencies in the EsD1, PGM1(1) Gc2, CpB, Fya, Dia, and LM genetic markers. In addition, the very rare Rh allele ry is present, as well as what seems to be a new PGM2 variant. There is very limited heterogeneity in the HLA system. All these distinctive features may have arisen through a combination of founder effects and genetic drift. However, low FIS values, as well as higher mean ages in heterozygous as compared to homozygous persons, suggest that an heterotic effect is counteracting these dispersive forces.

Recent studies of the Uruguayan population revealed different amounts of Amerindian and African genetic contributions. Our previous analysis of Afro-Uruguayans from the capital city of the Department of Cerro Largo showed a high proportion of African genes, and the effects of directional mating involving Amerindian women. In this paper, we extended the analysis to a sample of more than 100 individuals representing a random sample of the population of the whole Department. Based on 18 autosomal markers and one X-linked marker, we estimated 82% European, 8% Amerindian, and 10% African contributions to their ancestry, while from seven mitochondrial DNA site-specific polymorphic markers and sequences of hypervariable segment I, we determined 49% European, 30% Amerindian, and 21% African maternal contributions. Directional matings between Amerindian women and European men were detected, but differences involving Africans were not significant. Data about the specific origins of maternal lineages were also provided, and placed in a historical context.

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.

The answer to the first question posed above is affirmative. However, the problem of whether the Aché derived from a Gê group that preceded the Guarani colonization of Paraguay, or are just a differentiated Guarani group, could not be answered with the genetic information available; the second hypothesis seems more likely at present, but the point to be emphasized is the striking genetic distinctiveness of the Aché as compared to other Amerindians.