Haplogroup Q originated in Eurasia around 30,000 years ago. It is present in Y-chromosomes from Asia and Europe at rather low frequencies. Since America is undoubtedly one of the continents where this haplogroup is highly represented, it has been defined as one of the founding haplogroups. Its M3 clade has been early described as the most frequent, with pan-American representation. However, it was also possible to find several other haplogroup Q clades at low frequencies. Numerous mutations have been described for haplogroup Q, allowing analysis of its variability and assignment of its geographic origin. We have analyzed 442 samples of unrelated men from Argentina and Paraguay belonging to haplogroup Q; here we report specifically on 27 Q (xM3) lineages. We tested 3 single-nucleotide polymorphisms (SNPs) by amplified product-length polymorphism (APLP) analysis, 3 SNPs for restriction fragment length polymorphism (RFLP) analysis, 15 SNPs by Sanger sequencing, and 17 short tandem repeats (STRs). Our approach allowed us to identify five subhaplogroups. Q-M3 and Q-CTS2730/Z780 are undoubtedly autochthonous lineages and represent the most frequent subhaplogroups, with significant representation in self-defined aboriginal populations, and their autochthonous status has been previously described. The aim of present work was to identify the continental origin of the remaining Q lineages. Thus, we analyzed the STR haplotypes for the samples and compared them with haplotypes described by other authors for the rest of the world. Even when haplogroup Q lineages have been extensively studied in America, some of them could have their origin in post-Columbian human migration from Europe and Middle East.

Six blood groups (Rh, MN, Duffy, Kidd, Kell, and Lutheran) were investigated among three major ethnic groups (Bosniaks, Bosnian Croats, and Bosnian Serbs), as well as 10 regional subpopulations across Bosnia and Herzegovina (B&H): Krajina; Posavina; northeastern, eastern, middle, and central Bosnia; Sarajevo region; eastern, central, and western Herzegovina. This is the first study that introduces the molecular genetic typing of five blood groups within the B&H population, with the exception of the RhD blood group. The sample consisted of 450 buccal swabs from unrelated individuals. Five blood group systems (RhD, RhC, RhE, Kidd, MN) were genotyped by PCR with sequence specific primers, while three blood group systems (Kell, Duffy, Lutheran) were genotyped by the PCR-restriction-fragment-length polymorphism method. Minor variation of genetic diversity was observed within the three major B&H ethnic groups, as well as within the 10 subpopulations stratified according to geographical criteria. No genetic differentiation among ethnic groups was noticed. These results are in agreement with the results of previous studies based on different molecular genetics markers, which indicate that the three B&H ethnic groups belong to the same gene pool. A similar level of genetic variance was observed within regional subpopulations, with no significant genetic differentiation among them. Comparison of intrapopulation genetic diversity of the B&H population with other European and non-European populations, based on three loci (RHD, MN, and KEL), clearly show that the level of genetic diversity of the B&H population is within the European range.

This study aimed to determine the changing prevalence of consanguineous marriage in India between two national-level surveys. The primary hypothesis was whether region of residence and religious affiliation continue to play a significant role in determining consanguineous marriage even after controlling other potentially significant confounding variables. Data from the 81,781 and 85,851 ever-married women during the National Family and Health Surveys (NFHS) survey periods 1992–1993 (NFHS-1) and 2015–2016 (NFHS-4), respectively, were used in the analysis. Multinomial and binary logistic regression analyses examined determinants of consanguineous marriage types and of paternal and maternal first-cousin marriages, respectively. In both analyses a systematic model-building procedure was adopted. Altogether, four models were estimated. In the final model (model 4) of both the analyses, all respondent background characteristics (region of residence, religious affiliation, sociodemographic, household wealth) and years of survey were included. Although the overall prevalence of consanguineous marriage in India declined significantly (16%), it was not uniform across respondent background characteristics. The northern region of India (154%) showed a significant increase in consanguineous marriage, whereas eastern (31%), central (2.3%), northeastern (40%), and southern (8%) regions showed a significant decline. Significant declines in consanguineous marriage were found for Hindus (16%) and Muslims (29%); for Muslims of eastern (48%), central (29%), western (31%), and southern (27%) regions; and for Hindus in the western region (37%). Relative risk ratios estimated using multinomial logistic regression models suggest those living in the southern region show 9.55 (p < 0.001), 5.96 (p < 0.001), and 38.16 (p < 0.001) times more likelihood in the prevalence of first-cousin, second-cousin, and uncle-niece marriages, respectively, compared to the northern region after controlling all other confounding variables. Muslims also showed 3.76 (p < 0.001) and 2.91 (p < 0.001) times more likelihood in first-cousin and second-cousin marriages, respectively, compared to Hindus. Adjusted odds ratios (AORs) estimated using binary logistic regression models suggest those living in southern and northeastern regions were 1.25 (p < 0.001) and 1.36 (p < 0.05) times more likely, respectively, to marry a maternal first cousin compared to the northern region. The AOR estimates also show that Muslims were 1.11 (p < 0.01) times more likely to marry a maternal first cousin compared to Hindus. The authors conclude that, despite significant development in the socioeconomic condition of India during the postglobalization era (beginning in 1992–1993), region of residence and religious affiliation continue to play significant role in determining consanguineous marriage.

Manipur, one of the northeastern states of India, lies on the ancient silk route and serves as a meeting point between Southeast Asia and South Asia. The origin and migration histories of Naga and Kuki tribal populations are not clearly understood. Moreover, Kukis have been traced to two different ancestries, which has created confusion among the people. The present study examined genomic affinities and differentiation of the Naga and Kuki tribal populations of Manipur, Northeast India. Twenty autosomal markers (8 Alu insertion-deletions, 12 restriction-fragment-length polymorphisms) were analyzed. Findings show genetic differences between Naga and Kuki tribal populations with respect to the allele distribution pattern, which was substantiated by genetic differentiation (G_ST = 5.2%) and molecular variance (AMOVA), where the highest percentage of among-group variances was observed between Naga and Kuki tribal groups (7.09%). However, genetic similarities with respect to allele distribution patterns in most of the loci were seen among their respective groups (Rongmei and Inpui, Thadou and Vaiphei). Rongmei and Inpui tribal populations (Naga group) belong to the Naga-Bodo linguistic group, and Thadou and Vaiphei (Kuki group) belong to the Northern Kuki-Chin linguistic group, suggesting that genetic similarities may not be independent of linguistic affinities. Despite differential genetic affinities, both Naga and Kuki tribal populations in Manipur show more proximity with Southeast Asian populations and Northeast Indian populations than with other Indian populations and global populations taken for comparison.