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[Abstract] Objective To explore the distribution situation of microRNA(miR) -30 gene single-nucleotide sites rs1192037A / T polymorphisms in Guangxi Zhuang population and compare its distribution differences with other populations and to analyze level of common blood lipid indexes in genotypes. Methods SNPscan was used to detect rs1192037A / T locus genotyping in 236 volunteers of Zhuang nationality in Guangxi. The genotypes and allele frequencies of rs1192037A / T locus genotyping in different genders and groups were analyzed. The levels of common blood lipids in the subjects were detected by roche automatic biochemical apparatus. Results Three genotypes of AA, AT and TT were found in rs1192037 A / T with the frequency distribution of 11. 0%, 38. 6% and 50. 4%, respectively. No significant differences in genotypes and alleles frequencies of rs1192037 A / T between different genders in Guangxi Zhuang population were observed (P > 0. 05) . However,there were significant differences in the genotype and allele frequency of miR-30 gene rs1192037 A / T in Guangxi Zhuang population compared with those of Europeans, Japanese, Africans, Mexicans and Indians published by HapMap (P0. 05) . There were significant differences in the levels of TG among the 3 genotypes of rs1192037 A / T, and the TG levels of AT and TT genotypes were significantly higher than AA genotypes. Conclusion There are different degrees of rs1192037 A / T polymorphisms of miR-30 gene among Guangxi population and other ethnic populations and other regions. The polymorphism of rs1192037 A / T is related to the level of TG.
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Objective@#To investigate the characteristics of polymorphism distribution at the functional insertion/deletion locus rs145204276I/D in the promoter region of LncRNA GAS5 (growth-arrest specific transcript 5) gene in population of Guangxi district, and analyze the differences of polymorphism distribution of rs145204276I/D in the populations between Guangxi and other regions. @*Methods@#SNPscan high-throughput sequencing technique was used to detect rs145204276I/D locus in genotype of GAS5 gene of 289 subjects from Guangxi district, and the distribution frequencies of genotypes and alleles between different genders were analyzed. The differences of polymorphism distribution were compared with those in the database from the population of European (EUR), Japanese in Tokyo (JPT), South Asian (SAS), Admixed American (AMR), African (AFR), Chinese Han in Beijing (CHB), Nanjing, Jilin, Chongqing and Kunming which were published by 1000 genome project or reported in literatures. @*Results@#The frequencies of I/I, I/D and D/D genotypes of rs145204276I/D in GAS5 were 48.4%, 43.6% and 8.0%, respectively. The frequencies of I and D alleles were 70.2% and 29.8%, respectively. No significant difference of genotype and allele frequencies of rs145204276I/D was observed between different genders in Guangxi population ( P ＞0.05). The genotype and allele frequencies of rs145204276I/D in Guangxi population were significantly different from JPT, EUR, AFR, SAS and AMR populations ( P ＜0.05), but were not significantly different from those of Chinese Han population in Beijing, Nanjing, Jilin, Chongqing and Kunming ( P ＞0.05). @*Conclusion@#The distribution of LncRNA GAS5 gene rs145204276I/D polymorphism in Guangxi population was not different between men and women, and the polymorphism of LncRNA GAS5 gene was different from those of other regions in the world.
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Objective To compare the advantages and disadvantages of SNPscan and Sanger sequence which are both used to detect the common deafness gene mutations in non-syndromic hearing loss (NSHL) in Gansu Province.Methods Peripheral blood samples were obtained from Dongxiang, Yugu and Baoan people with moderately severe to profound sensorineural hearing loss in Gansu province to extract genomic DNA.SNPscan was used to detect the 115 mutations in the common pathogenic GJB2 gene, SLC26A4 gene and mtDNA gene.Results We used the SNPscan to screen the mutation of GJB2 gene,mtDNA A1555G and mtDNA C1494T, SLC26A4 gene of sensorinural deafness patients from Gansu Province.The mutation rate of these three genes was 23.18% (35/151), and the mutation rate of Dongxiang, Yugu, Baoan was 21.31% (26/122), 54.54% (6/11), 16.67% (3/18), respectively.Compared with the Sanger sequence, the results were statistically insignificant(P>0.05).The detection rates in the three genes of SNPscan were 11.26% (17/151), 1.32% (2/151) and 0.66% (1/151),respectively , and the detection rates of Sanger sequence were 9.93% (15/151), 1.32% (2/151) and 0.66% (1/151) ,respectively.The results of the two methods were compared.The results were statistically insignificant (P>0.05).Time, cost and flux, SNPscan method is superior to Sanger sequencing.Conclusion Compared with the Sanger sequence, SNPscan is more lighter in workload, less time-consuming, higher-throughput, lower cost, and can get more meaningful mutations and reduce the false negative rates.