To determine the associations of fecundity and childlessness with month of conception and to find a causal mechanism for these associations, we reanalyzed some of our previous data according to the predictions of the seasonal optimal ripening oocyte (SOptRO) and seasonal preovulatory overripeness ovopathy (SPrOO) hypotheses. Prime and minor SOptRO months as well as high-risk, no-risk, and very high risk SPrOO months were defined on the basis of a priori knowledge of the existence of ovulatory and anovulatory seasons in mammals and of the general birth distribution in Europe. The month of birth was assessed among 899 mothers with three or more children and 388 childless women extracted from a 1% sample of the Austrian population. The women with three or more children were born in excess during the prime and less often during the minor SOptRO months (χ² = 2.81; p = 0.045; relative risk = 1.16; 95% CI = 1.01–1.33). This is in line with the SOptRO predictions. The childless women were more frequently born during the high-risk SPrOO months compared to the no-risk months but less often during the very high risk months. The linear trend (χ² = 8.43; p = 0.009) is in line with the SPrOO predictions. We suggest that fecundity and childlessness are dependent on the gradient of oocyte maturation reflected by mother's month of birth, which may modulate future constitution.

Surnames analysis is useful for populations in which only written documents remain, as is the case for historical populations. In Córdoba province, Argentina, census records contain nominal data of inhabitants, including information on sex, age, ethnosocial category, civil status, occupation, place of birth, and residence, that can be analyzed using surnames. Relationship indicators within and among ecclesiastic units in Córdoba were estimated by isonymy for the adult white population registered in the 1813 census. The R_ii, R_ij, and R_ST coefficients and the surname abundance indicator (α) were calculated. Lasker's distances among categories of population units were used to cluster the 16 provincial population categories. Gradients for kinship within population and for surname diversity were in agreement with the principal areas and waves of original settlement in the province. The main population clusters reflect those areas, whereas minor clusters coincide with the network of roads existing in the territory by 1813. The structure of the white population in Córdoba province was determined by the geographic location of the original waves of settlement, and it followed a pattern of relationships conditioned by the routes connecting population units in the Colonial period.

The substantial involvement of genetic factors in the determination of head-size and head-shape traits has been firmly established. However, there has been a lack of agreement on a number of specific issues concerning the pattern of inheritance of craniofacial features. In this study we examined some of these issues in a large, ethnically homogeneous sample of Indian pedigrees. The data included 1,263 individuals belonging to 373 nuclear families. Eleven raw head-size traits and two synthetic phenotypes, interpreted as horizontal and vertical head-size components (HOC and VEC, respectively), were used in the analysis. To establish the pattern of inheritance of head traits, we carried out univariate and bivariate analyses. Maximum heritability estimates ranged from 0.41 to 0.83 for the studied head-size phenotypes. The portion of the total residual variance attributable to putative additive genetic factors was 68.3% and 70.3% for HOC and VEC, respectively, and common familial factor effects were found to be nonsignificant. The extent of genetic influences did not differ significantly with respect to sex or between HOC and VEC. The results of bivariate variance decomposition analysis strongly suggest the existence of common genetic factors simultaneously affecting HOC and VEC; 41.8% of the two traits' total residual variance was attributable to the effect of these common genetic factors.

Plasminogen is a hemostasis-related phenotype and is commonly implicated in thrombotic and bleeding disorders. In the San Antonio Family Heart Study (SAFHS), we performed to our knowledge the first genomewide linkage scan for quantitative trait loci (QTLs) that influence the level of plasminogen. The subset of the SAFHS population used for this study consists of 629 individuals distributed across 26 extended Mexican American families. Pedigree-based variance component linkage analyses were performed using SOLAR. The mean plasminogen level was 114.94% ± 17.8 (range, 42–195). The heritability (h²) of plasminogen was 0.43 ± 0.08 (p < 6.3 × 10⁻¹³). One region on chromosome 12 (12q14.1) showed suggestive evidence of linkage (LOD = 2.73, nominal p < 0.0002, genomewide p = 0.0786) near marker D12S1609. Because plasminogen has important effects in many human health problems, such as cancer and atherosclerosis, the role of this putative QTL in the regulation of plasminogen variability needs to be studied further.

The Polynesian motif, a mitochondrial DNA marker of ancestral Polynesian communities, has filled a critical role in reconstructions of remote Oceanic history. Although the motif provides an effective narrative for Polynesian females, no equivalent male history is available from paternal lineages. Here, we describe a Y-chromosome binary polymorphism with absolute Polynesian affinity. We illustrate its unique spatial and temporal connections to early Polynesian communities, and through an analysis of associated short tandem repeat variation, we describe the first clear genealogic structure within Polynesia. Unlike the eastern and western regions advocated by archeology, we identify a tripartite structure comprising interaction spheres in the west (Tonga and Samoa), center (Tahiti), and east (Rapanui/Easter Island). Such patterning, a product of early regional contact and subsequent isolation, signals the conflicting roles of mobility and seclusion in Polynesian prehistory.

Six hundred twenty-one samples from Portugal, the Cabo Verde archipelago, and Guinea-Bissau were typed for HLA-A, HLA-B, and HLA-DRB1 using the polymerase chain reaction–sequence-specific oligonucleotide probe (PCR-SSOP) method and the sequence-based typing (SBT) method to characterize and compare discrepancies between the two methods. Fifty-three alleles (4.27% of 1,242 chromosomes typed) identified by the PCR-SSOP method were not concordant with the results obtained using the SBT method. Thirty-four (2.74% of total chromosomes typed) PCR-SSOP mistyping results were discrepancies inside the same allele group and 19 others (1.53% of total chromosomes typed) were relative to nonconcordant results between different groups. PCR-SSOP allele mistyping is the result of interpretation difficulties resulting from less intense, absent, or dubious hybridization patterns. Noncommercial PCR-SSOP procedures are highly exigent on the technicians' experience and the availability of properly calibrated high-precision equipment.

We have analyzed single nucleotide polymorphisms (SNPs) in the XPC, XPA, and XPG genes of the nucleotide excision repair (NER) pathway in the Indian population. In the XPC gene we observed nine polymorphisms in the coding region, four polymorphisms in the intronic region, and two polymorphisms in the 5′untranslated region (UTR). In the XPA gene we observed one frequent SNP (allele frequency 0.48) within the 5′UTR at the 1665 position in a large proportion of the sample. In addition, we observed three novel heterozygous polymorphisms (a C to A transversion at position 1523 and a G to A transition at positions 1418 and 1458, with an allele frequency of 0.004) within the promoter region. In silico PCR analysis demonstrated that all three novel polymorphisms lie within a putative CpG island and that the variation at position 1418 falls within the potential GATA1/2/3 transcription factor(s) binding site and also within the negative control element. We performed a gel retardation assay with HeLa cell nuclear extract with an oligonucleotide encompassing this region. One of the alleles found at position 1458 of the XPA gene showed a significant change in protein-DNA interaction. In the XPG gene we found five polymorphisms in the coding region and one each in the 5′UTR of exon 1 and in intron 13.

Nine STR loci (CSF1PO, TPOX, TH01, F13A01, FESFPS, VWA, D16S539, D7S820, and D13S317) were analyzed in unrelated Ngöbé and Emberá Amerindians of Panama. The chi-square test demonstrated statistically significant differences (P < 0.001) in the allele frequencies for all markers except one (D16S539; P < 0.01). Both populations shared their alleles with the highest frequencies in seven loci. However, there were also noticeable differences at the TPOX locus, which showed its highest frequencies at alleles 11 (0.48) and 6 (0.54) for the Ngöbé and Emberá, respectively. Interestingly, these alleles are present in one population and are absent in the other, suggesting that they could be distinctive for each population. These results demonstrate that, despite the fact that each population belongs to a different linguistic stock [Chibchan (Ngöbé) and Chocoan (Emberá)], both retain strong similarities in their allele-frequency distributions. Three loci (TPOX, VWA, and F13A01) in the Ngöbé and two loci (TH01 and TPOX) in the Emberá departed from Hardy-Weinberg equilibrium. The analysis of the STR markers demonstrates that, despite their low levels of genetic polymorphisms, most of them could be informative for forensic purposes, showing a combined power of discrimination of 0.9999 for both Amerindian populations. However, powers of exclusion in the Ngöbé were very low, particularly at the TH01 (0.04) and FESFPS (0.08) loci. The combined powers of exclusion were 0.9338 and 0.9890 for the Ngöbé and the Emberá, respectively. Furthermore, the combined typical paternity index in the Ngöbé was considerably low (2.58), and in the Emberá it was 40.44, which is also very low. The low genetic polymorphism levels suggest that the use of additional loci supplementing the battery of the nine loci is recommended for paternity and forensic tests in both populations, particularly for the Ngöbé.

The molecular polymorphism displayed by apolipoprotein E (APOE) has been listed as a risk factor for susceptibility to various disorders, such as those associated with lipid metabolism, arteriosclerosis, coronary artery disease (CAD), and Alzheimer disease. To evaluate the role of APOE genotypes as risk factors for Alzheimer disease, CAD, and atherosclerosis in the Kurdish population of Kermanshah, Iran, we studied the frequencies of APOE alleles *2, *3, and *4 and genotypes in 914 healthy Kurdish subjects (514 men and 400 women). The highest frequency of APOE in the Kurdish population was found for APOE*3 (87.87%). The APOE*2 and APOE*4 allele frequencies were 6.66% and 5.45%, respectively. Distribution of APOE genotypes and alleles was not significantly different between male and female subjects (p > 0.05). Interestingly, the order of the frequency of APOE alleles (*3 → *2 → *4) in the Kurdish population was quite different from that reported for most populations in the world (*3 → *4 → *2). The findings of the present study can be used to identify individuals with high risk of CAD and atherosclerosis and suggest a preventive measure to reduce their susceptibility.