Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study).

Whole exome sequencing of peripheral blood samples from Tuvan females diagnosed with breast and ovarian cancers (BC/OC) was performed to search for new genes involved in BC/OC pathogenesis. Considering the high cost of whole exome sequencing and study material requirements, 9 samples were selected from 61 genomic DNA samples. A mutation in the LGR4 gene (rs34804482) involved in the tumor-mediated Wnt signaling pathway and a mutation in the BRWD1 gene (rs147211854) involved in chromatin remodeling were identified in BC patients. A mutation in the CITED2 gene (rs77963348) involved in the pathogenesis of primary ovarian insufficiency was identified in a patient with OC and a history of infertility. A mutation in the PDGFRA gene (rs2291591) was identified in two BC/OC patients. LRG4, BRWD1, PDGFRA, and CITED2 germline pathogenic mutations were discovered in Tuvan women diagnosed with BC/OC for the first time.

[Reliability and validity of SF-36 scale for evaluating the quality of life of Tuva adults in the Xinjiang Uygur Autonomous Region].

OBJECTIVE: To assess the reliability and validity of SF-36 scale in measuring quality of life of Tuva adults in Xinjiang Uygur Autonomous Region. METHODS: A total of 437 Tuva adults were selected by multistage sampling method, in Tuva families lived in Baihaba Village Habahe county and Kanasi and Hemu Villages Buerjin County in Artay Xinjiang Uygur Autonomous Region in 2016, including 100 males and 50 females, the three age groups 18-29, 30-49, 50 and above accounted for 30. 66%, 54. 00% and 15. 33% respectively. SF-36 scale was be used to measure the quality of life. The scale's reliability was assessed by internal consistency reliability and half-fold reliability, and the validity was assessed by set validity, discriminate validity and structural validity. RESULTS: The Cronbach's α coefficient of the SF-36 scale was 0. 838, and all of the Cronbach's α coefficients were more than 0. 750 after corresponding dimensions were deleted. The Spearman-Brown coefficient was 0. 828. The achievement ratio of aggregation tests and discrimination tests were 100% and 99. 59%, respectively. Thirty-five items were included in EFA. Seven common factors were extracted through maximum balanced rotation method, and the cumulative contribution rate was 68. 97%. Eight-dimensional data were included in EFA, and two common factors were extracted with a cumulative contribution rate of 66. 44%. The fitting degree of confirmatory factor analysis model is invalid. CONCLUSION: SF-36 has showed a good reliability, set validity and discrimination validity in evaluating the quality of life of Tuva adults in Xinjiang, but its structural validity needs to be improved.

Structure and origin of Tuvan gene pool according to autosome SNP and Y-chromosome haplogroups.

Tuvans are one of the most compactly living peoples of Southern Siberia, settled mainly in the territory of Tuva. The gene pool of the Tuvans is quite isolated, due to endogamy and a very low frequency of interethnic marriages. The structure of the gene pool of the Tuvans and other Siberian populations was studied using a genome-wide panel of autosomal single nucleotide polymorphic markers and Y-chromosome markers. The results of the analysis of the frequencies of autosomal SNPs by various methods, the similarities in the composition of the Y-chromosome haplogroups and YSTR haplotypes show that the gene pool of the Tuvans is very heterogeneous in terms of the composition of genetic components. It includes the ancient autochthonous Yeniseian component, which dominates among the Chulym Turks and Kets, the East Siberian component, which prevails among the Yakuts and Evenks, and the Far Eastern component, the frequency of which is maximum among the Nivkhs and Udeges. Analysis of the composition of IBD-blocks on autosomes shows the maximum genetic relationship of the Tuvans with the Southern Altaians, Khakas and Shors, who were formed during the settlement of the Turkic groups of populations on the territory of the Altai-Sayan region. A very diverse composition of the Tuvan gene pool is shown for various sublines of Y-chromosomal haplogroups, most of which show strong ethnic specificity. Phylogenetic analysis of individual Y-chromosome haplogroups demonstrates the maximum proximity of the gene pool of the Tuvans with the Altaians, Khakas and Shors. Differences in frequencies of Y-chromosome haplogroups between the Todzhans and Tuvans and a change in the frequencies of haplogroups from south to north associated with the East Asian component were found. The majority of the most frequent Y-chromosome haplogroups in the Tuvans demonstrate the founder effect, the formation age of which is fully consistent with the data on their ethnogenesis.

Sex differences in emotional perception: Evidence from population of Tuvans (Southern Siberia).

Prior studies have reported that women outperform men in nonverbal communication, including the recognition of emotions through static facial expressions. In this experimental study, we investigated sex differences in the estimation of states of happiness, anger, fear, and disgust through static photographs using a two-culture approach. This study was conducted among the Tuvans and Mongolian people from Southern Siberia. The respondents were presented with a set of photographs of men and women of European and Tuvan origin and were asked to interpret each of them. They were asked: "What does the person in the photo feel?" We found that the Tuvans easily identified happiness and anger; however, the level of accuracy of fear and disgust recognition was low. No sex differences in the recognition of happiness, disgust, and fear were observed. However, anger recognition was significantly moderated by the perceiver's sex and the origin of the model. Compared to Tuvan men, Tuvan women were significantly less accurate in identifying anger in male Tuvans. Furthermore, the age effect was found in recognition of fear: older Tuvans were more accurate while recognizing the fearful faces of Tuvan, but not the European models.