Malana, a small village in Kullu District of Himachal Pradesh, India, has historically been considered a hermit village. Today it has a census size of 1,101 individuals. Geographic, linguistic, and population barriers have contributed to its seclusion. Little is known about the extent to which the population genetically differentiated during the years of isolation. To address this issue, we genotyped 48 Malani individuals at 15 highly polymorphic autosomal STR loci. We found that Malanis have lost some genetic variability compared with the present-day cosmopolitan caste populations and highly mobile pastoral cultures of India. But there is no evidence that they have gone through a severe bottleneck; the average population still shows a mean of 6.86 alleles per locus compared to a mean of 7.80–8.93 for nonisolated populations. An analysis of molecular variance (AMOVA) differentiates Malanis from the rest of the comparison populations. The population structure revealed by multidimensional scaling analysis of standard genetic distances lends support to the AMOVA. Our results are consistent with the social heterogeneity of the Malanis. We also analyzed 17 Y-chromosome STRs in 30 individuals to assess the paternal gene pool. The Malanis are characterized by a generally low Y-chromosome haplotype diversity. A network analysis indicates that two closely related haplotypes account for a large proportion of Malani Y chromosomes. We predicted Y-chromosome haplogroups and found that J2 and R1a were the most prevalent. Genetic drift and limited gene flow leading to reduced genetic diversity were important in determining the present genetic structure of the highly endogamous Malana village.

Mitochondrial DNA from 14 archaeological samples at the Ural State University in Yekaterinburg, Russia, was extracted to test the feasibility of ancient DNA work on their collection. These samples come from a number of sites that fall into two groupings. Seven samples are from three sites, dating to the 8th–12th century AD, that belong to a northern group of what are thought to be Ugrians, who lived along the Ural Mountains in northwestern Siberia. The remaining seven samples are from two sites that belong to a southern group representing the Sargat culture, dating between roughly the 5th century BC and the 5th century AD, from southwestern Siberia near the Ural Mountains and the present-day Kazakhstan border. The samples are derived from several burial types, including kurgan burials. They also represent a number of different skeletal elements and a range of observed preservation. The northern sites repeatedly failed to amplify after multiple extraction and amplification attempts, but the samples from the southern sites were successfully extracted and amplified. The sequences obtained from the southern sites support the hypothesis that the Sargat culture was a potential zone of intermixture between native Ugrian and/or Siberian populations and steppe peoples from the south, possibly early Iranian or Indo-Iranian, which has been previously suggested by archaeological analysis.

Mitochondrial DNA (mtDNA) was extracted from skeletal remains excavated from three Arikara sites in South Dakota occupied between AD 1600 and 1832. The diagnostic markers of four mtDNA haplogroups to which most Native Americans belong (A, B, C, and D) were successfully identified in the extracts of 55 (87%) of the 63 samples studied. The frequencies of the four haplogroups were 42%, 29%, 22%, and 7%, respectively, and principal coordinates analysis and Fisher's exact tests were conducted to compare these haplogroup frequencies with those from other populations. Both analyses showed closer similarity among the Mohawk, Arikara, and Sioux populations than between any of these three and any other of the comparison populations. Portions of the first hypervariable segment (HVSI) of the mitochondrial genome were successfully amplified and sequenced for 42 of these 55 samples, and haplotype networks were constructed for two of the four haplogroups. The sharing of highly derived lineages suggests that some recent admixture of the Arikara with Algonquian-speaking and Siouan-speaking groups has occurred. The Arikara shared more ancient lineages with both Siouan and Cherokee populations than with any other population, consistent with the Macro-Siouan language hypothesis that Iroquoian, Siouan, and Caddoan languages share a relatively recent common ancestry.

The Quebec population is one of the rare populations of its size for which genealogical information is available for an uninterrupted period of almost four centuries. This allows for in-depth studies on the formation and evolution of a young founder population. Using data from two major population registers, in this study we focus on the maternal and paternal lineages (i.e., strictly female or male genealogical lines) that can be traced back within the Quebec genealogies. Through the analysis of these lineages it is possible to characterize the founders who transmitted to the contemporary population their mitochondrial (for females) and Y-chromosome (for males) DNA. The basic material consists of 2,221 ascending genealogies of subjects who married in the Quebec population between 1945 and 1965. On average, more than nine generations of ancestors were identified among the lineages. Analyses of maternal and paternal lineages show that the number of paternal founders is higher and their origins and genetic contributions are more variable than that of maternal founders, leading to a larger effective population size and greater diversity of Y chromosomes than of mtDNA. This is explained for the most part by differential migratory patterns among male and female founders of the Quebec population. Comparisons of sex-specific genetic contributions with total genetic contribution showed a strong correlation between the two values, with some discrepancies related to sex ratio differences among the founders' first descendants.

Viewed as a biological concept, sexual dimorphism does not appear to motivate debate. However, with the aim of measuring such dimorphism, several indexes have been proposed, and not all of them have been regarded as equally reliable by the biological community. The main divergence between the indexes is that their definition is based on appraising only partial features (e.g., the mean parameter) of the set of measurements corresponding to each sex. Provided that sexual dimorphism can be satisfactorily analyzed when random variables and their distribution functions are involved, it is also likely that the conjecture that the two sexes making up a population are independent enables such indexes to be clearly distinguished. We examined and compared the following measures of sexual dimorphism: the quotient of sample means, the sample range, the sample coefficient of variation, the overlapping area between two independent normal distributions, and the overlapping area between the functions making up a mixture of two normal distributions. We especially consider their inferential structures.

D1S80 is a 16-bp variable number of tandem repeats minisatellite. We analyzed single nucleotide polymorphisms (SNPs) flanking this locus in a Tamil population. Alleles ranged from 15 through 41 repeats, with alleles 18 and 24 being predominant with frequencies of 31% and 34.5%, respectively, suggesting a bimodal allelic distribution. All the 18-repeat alleles are associated with HinfI( ) and FnuAHI(-) restriction site polymorphisms at the 5′ and 3′ ends, respectively. Allele 24 is associated with HinfI(-) and Fnu4HI( ). Of the alleles tested, 98.5% have a linkage of two specific SNP polymorphisms. If an allele is positive for HinfI, then it is negative for Fnu4HI, and if an allele is negative for HinfI, it is then positive for Fnu4HI, which demonstrates strong linkage disequilibrium between the two polymorphic SNPs. This suggests that reciprocal crossover is not involved in changes in the number of repeats, as few exchanges are seen in the flanking regions. The repeat allele-SNP association might be involved with the internal structure of the locus micropolymorphisms, possibly a double-strand break hotspot.