Search

Objective To screen the single nucleotide polymorphism (SNP) loci and related genes that are significantly associated with essential hypertension among Chinese Tajiks by using exon sequencing and to reveal the unique essential hypertension related gene polymorphisms of the high-altitude minority. Methods A total of 62 Chinese Tajiks (26 in the control group and 36 in the hypertension group) from Tashkurgan County (in the east of Pamir Plateau), Kashgar, Xinjiang Uygur Autonomous Region, in July 2017 were recruited in this study. Their venous blood were collected for DNA extraction to make exon sequencing. According to the significant differences in allele frequency distribution between the 2 groups, the SNP loci associated with essential hypertension were screened out. Finally, after the currently known hypertension-related genes were removed, enrichment analysis was carried out on the remaining genes to find out the most significant enrichment pathway, and the obtained top 5 significantly related SNP loci were further analyzed with genetic association analysis. Results A total of 6 739 SNP loci with statistically significant differences in allele frequency distribution between the 2 groups were screened out, and these loci were located on 3 646 genes in total. The remaining genes were significantly enriched in the regulation of GTPase activity pathway after the removal of currently known hypertension-related genes[log10(P)=-4.06]. Among them, the significantly related SNP loci and their genes were rs17261772(RAB3GAP1), rs7319836(LRCH1), and rs868188(ARHGEF11). Conclusion Regulation of GTPase activity pathway may be involved in the progression of essential hypertension among Chinese Tajiks. The mutation of rs17261772, rs7319836 and rs868188 on this pathway may have an important influence on the risk of hypertension to the high-altitude minority.

Objective To investigate the correlation between genetic characteristics of Chinese Tajik population and high altitude adaptation by sequencing and analyzing the whole genome of a healthy Chinese Tajik adult male. Methods A healthy Chinese Tajik adult male was subjected as participant (named as T153) in this study. His whole blood DNA was extracted for the mitochondrial DNA, and whole genome sequencing and analysis were used to analyze. Results In the analysis of the complete nucleotide sequence of the mitochondrial genome, we found that the haplotype of mitochondrial DNA phylogeny of the Tajik male belonged to K1a12. The genome sequencing depth was 32.17×, sequence alignment was with the hg38 human genome database. There were 3 351 535 single nucleotide variant (SNV), 8 456 338 insertion-deletion (INDEL), 7 829 structure variation (SV) and 63 397 copy number variation (CNV) in total. In the analysis on the SNV of genes EGLN1 and EPAS1 (they are related to high altitude genetic adaptation in Tibetan), the results showed that the genotypes of polymorphic loci rs479200 and rs480902 of gene EGLN1 were T and C, respectively, and the loci rs6756667 genotype of gene EPAS1 was G. The polymorphic loci rs978906, rs6753921, rs10495582 and rs2230774 of gene ROCK2 (related with high altitude essential hypertension) formed the gene haplotype GAGA, which all were the genetic factors that were involved in poor acclimatization at high altitude. What's more, some CNV changes, as copy number reduction, were found in genes DAZ, BPY2 and CDY (related to changes in male sex hormone levels). Conclusion The decrease of copy number of DAZ may be an important factor affecting the change of male sex hormone levels in Chinese Tajik. However, there was no correlation between SNV distribution of this male and common high altitude genetic adaptation sites found in previous studies. There may be other mechanisms of genetic adaptation to high altitude.

We have prepared undoped and Nd-doped BiFeO3 films on Si(100) by sol-gel method. XRD measurements show that all the films are single perovskite structure and a phase transition appeared in Nd doping BiFeO3 films. Dense microstructure with evenly distributed grains about 100 nm is observed by SEM. The ellipsometric measurements were carried out in the UV-visible region and the corresponding experimental data were fitted by using a model consisting of air/roughness/BNFO/Si(100). It has been found that the optical constants tend to increase with Nd content increasing, however, the optical band gap decreases as Nd content increasing.

Materials based on calcium alkali orthophosphate using for filling bone defects have been fabricated by means of solid state reaction method. The starting materials were selected from chemical reagents: CaHPO4· 2H2O, CaCO3, Na2CO3, K2CO3and H3PO4(85%). After these materials were mixed stoichiometrically and dried at 200°C for 2 hours, the mixture was sintered in air at high temperature for 2 hours. The samples were characterized by X-ray diffraction. The results showed that the new materials contained only one crystal phase: Ca2KNa(PO4)2, whether the sintering temperature was 1350 degrees C or higher if the material was designed as Ca2KNa(PO4)2. Furthermore, the solubility was tested and it revealed that these materials containing Ca2KNa(PO4)2had higher solubility than α-TCP.