Study of the association of lncRNA-GAS5 gene polymorphisms with systemic lupus erythematosus in Guangxi population / 中华医学遗传学杂志

OBJECTIVE@#To assess the association of rs55829688 and rs75315904 polymorphisms of the lncRNA-GAS5 gene with susceptibility to systemic lupus erythematosus (SLE) in Guangxi population.@*METHODS@#Peripheral venous blood samples were collected from the SLE group and control group. Following extraction of genomic DNA, SNPscan and Sanger sequencing were carried out to determine the genotypes for the rs55829688 and rs75315904 loci of the lncRNA-GAS5 gene.@*RESULTS@#No difference was found between the two groups with regard to the genotypic frequencies for rs55829688 and rs75315904 (P > 0.05). However, the frequencies of C allele of rs55829688 between the two groups was significantly different (P < 0.05). In the SLE group, the frequencies of C allele and CT+CC genotype for rs55829688 among SLE patients with nephritis were significantly lower than those of SLE patients without nephritis (P < 0.05). In addition, haplotype analysis showed that the frequency of rs55829688 C/rs75315904 A allele in the SLE group was lower than that of the control group (P < 0.05).@*CONCLUSION@#In Guangxi population, the carrier status of rs55829688 C allele of the lncRNA-GAS5 gene may reduce the risk of SLE and its complicated nephritis, and the rs55829688 C/rs75315904 A haplotype may reduce the risk for SLE.

Polymorphism distribution of 5bp insertion/deletion in promoter region of LncRNA [STHX] GAS5 gene in population of Guangxi district / 临床检验杂志

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.

Phenotypic and genotypic spectra of patients with glucose-6-phosphate dehydrogenase deficiency gene known pathogenic variants: a single-center study / 中华儿科杂志

Objective@#To analyze the hotspots of known pathogenic disease-causing variants of glucose-6-phosphate dehydrogenase (G6PD) and the phenotype spectrum of neonatal patients with known pathogenic disease-causing variants of G6PD.@*Methods@#The known pathogenic disease-causing variants of G6PD were collected from Human Gene Mutation Database. Screening was performed for these variants among the 7 966 cases (2 357 neonatal, 5 609 non-neonatal) in the database of sequencing at Molecular Diagnosis Center, Children's Hospital of Fudan University. All these samples were from patients suspected with genetic disorder. The database contained Whole Exon Sequencing data and Clinical Exon Sequencing data. We screened out the patients with known pathogenic disease-causing variants of G6PD, analyzed the hotspot of G6PD and the phenotype spectrum of neonatal patients with known pathogenic disease-causing variants of G6PD.@*Results@#(1) Among the next generation sequencing data of the 7 966 samples, 86 samples (1.1%) were detected as positive for the known pathogenic disease-causing variants of G6PD (positive samples set). In the positive sample set, 51 patients (33 males, 18 females) were newborn babies. Forty-three patients (26 males, 17 females) had the enzyme activity data of G6PD. (2) Among the 86 samples, Arg463His, Arg459Leu, Leu342Phe, Val291Met were the leading 4 disease-causing variants found in 72 samples (84%). (3) Male neonatal patients with the same variants had the statistically significant differences in enzyme activity: among 13 patients with Arg463His, enzyme activity of 9 patients was ranked as grade Ⅲ, 1 case ranked as Ⅳ, 3 cases had no activity data;among 10 patients with Arg459Leu, enzyme activity of 4 patients was ranked as Ⅱ, 4 cases ranked as Ⅲ, 2 cases had no activity data;among 2 patients with His32Arg, enzyme activity of one patient was ranked as Ⅱ, another was Ⅲ. Male neonatal patients with the same mutation and enzyme activity also had the statistically significant differences in phenotype spectrum: among 9 patients with Arg463His and level Ⅲ enzyme activity, 6 presented hyperbilirubinemia, 2 met the criteria for exchange transfusion therapy, 2 showed hemolysis;among 4 patients with Arg459Leu and level Ⅱ enzyme activity, 3 presented hyperbilirubinemia;among 4 patients with Arg459Leu and level Ⅲ enzyme activity, 2 presented hyperbilirubinemia, 1 met the standard of exchange transfusion therapy;among 3 patients with Val291Met and level Ⅲ enzyme activity, 1 presented hyperbilirubinemia.@*Conclusions@#Arg463His, Arg459Leu, Leu342Phe, Val291Met were the hotspots variants for the G6PD. Patients with the same G6PD variants and sex present different phenotype, patients with the same G6PD variants, sex and enzyme activity also present different phenotype .

Association of single nucleotide polymorphisms of rs3819024 and rs8193037 loci of IL-17A gene with the risk of ischemic stroke / 中华医学遗传学杂志

OBJECTIVE@#To assess the association of polymorphisms of rs3819024 and rs8193037 loci in the promoter region of IL-17A gene with the risk of ischemic stroke (IS) among ethnic Han Chinese from Guangxi.@*METHODS@#The polymorphisms of rs3819024 and rs8193037 loci were detected by a SNaPshot assay and DNA sequencing among 392 IS patients and 443 healthy controls with matched age and gender.@*RESULTS@#The genotypes, dominant model, recessive model, and alleles of rs3819024 polymorphisms showed no significant difference between the two groups, with the P values calculated as 0.150, 0.227, 0.125, 0.594 and 0.202, respectively, and OR (95% CI) as 1.27(0.92-1.74), 1.28(0.86-1.91), 1.27(0.94-1.72), 1.10(0.78-1.54), and 1.13(0.94-1.38), respectively. The genotypes, dominant model, recessive model, and alleles of rs8193037 polymorphisms also showed no significant difference between the two groups, with the P values calculated as 0.722, 0.352, 0.863, 0.345 and 0.969, respectively, and OR (95% CI) as 0.94(0.65-1.35), 2.25(0.41-12.35), 0.97(0.68-1.38), 2.27(0.41-12.48), and 1.01(0.72-1.40), respectively.@*CONCLUSION@#Polymorphisms of the rs3819024 and rs8193037 loci of the IL-17A gene are not associated with the susceptibility to IS among ethnic Han Chinese from Guangxi.

Study of the Polymorphisms rs1491033A/C and rs1813389A/G in the miR-17-92 Gene Cluster Promoter Region in a Guangxi Population / 中国医科大学学报

Objective To investigate the distribution of the polymorphisms rs1491033A/C and rs1813389A/G in the promoter region of the miR-17-92 gene cluster in a normal population of Guangxi and compare this distribution with that in different ethnic groups. Methods We detected the genotypes of rs1491033A/C and rs1813389A/G of 275 people from Guangxi using the SNaPshot technique and DNA sequencing. We then analyzed the genotype and allele frequency distribution differences among different genders and groups. Results Three genotypes,AA,AC,and CC,were found for rs1491033A/C with frequency distributions of 21. 1％,53. 1％,and 25. 8％, respectively. There were significant differences in genotype and allele frequencies of rs1491033A/C between the Guangxi population and those of Europe and Africa,as published in the International HapMap project (P < 0. 05). Three genotypes,AA,AG,and GG were observed for rs1813389A/G with frequency distributions of 40. 0％,50. 2％,and 9. 8％,respectively. There were significant differences in the genotype and allele frequencies of rs1813389A/G between the Guangxi population and those of Europe,Beijing,Japan,and Africa (P <0. 05). However,there were no significant differences in genotype or allele frequencies of the rs1491033A/C or rs1813389A/G polymorphisms between genders in the Guangxi population (P > 0. 05). Conclusion There are different distributions of the rs1491033A/C and rs1813389A/G polymorphisms in the miR-17-92 gene cluster in different races and regions.

Initial therapy indications of acute primary immune thrombocytopenia in children / 中华实用儿科临床杂志

Objective To explore the initial therapy indications of acute immune thrombocytopenia (ITP) in children based on the classification treatment.Methods Three hundred and eighty newly diagnosed ITP cases were enrolled in this study from Jan.1st 2012 to Apr.30th 2013 in Children's Hospital Affiliated to Shanghai Jiaotong University.In total 380 patients,there were 214 male cases (56.31％) and 166 female cases (43.68％).The cases were divided into observation group and therapy group according to the initial platelet count which was ≤ 30 × 109/L or the bleeding over moderate volume or with active bleeding.Platelet values were observed in the observation group weekly,adrenal cortical hormone and immunoglobulin treatment were adopted in the therapy group,cases were followed up to Aug.30th 2013,9 months on the average.Results Three hundred and five cases showed overall response (80.26％) and 75 cases showed no response(19.74％).One hundred and seventy-eight cases were divided into observation group (46.84％),in which 133 cases (74.72％) showed complete response or response.Two hundred and two cases were included in therapy group (53.16％),in which 167 cases (82.67％) were with complete response or response.There was no statistical difference between the 2 groups in curative effect (Z =-0.54,P =0.59).Forty-five cases in observation group were no response and accepted therapy,35 of them (77.78％) had response.There were equal efficiency in the initial therapy group and the subsequent therapy group (x2 =3.60,P =0.06).There was no difference between the age of onset,sex and season in 2 groups.Cases aged from 1 month to 1 year seemed to have a high incidence because of vaccination,and in the cases aged from 3 to 14 years the onset was related to infection.The children over 3 years old had higher risk factors in self-healing and the curative effect.There was no severe bleeding or adverse effect or dead cases in this study.Conclusions It is feasible to take platelet count ≤30 × 109/L as the threshold for initial therapy indications.Almost half of the cases could avoid overtreatment and pretherapy observation will not reduce the initial cure effect; no severe internal bleeding was observed in all the cases.

Progress on juvenile chronic immune thrombocytopenic purpura / 国际儿科学杂志

Immune thrombocytopenic purpura is the common hemorrhagic disease in childhood.According to the international working group consensus,the article reviews its definition,classification criteria and the clinical features and diagnosis,in regarding the pathogenesis of immune function abnormalities,infection,platelets apoptosis and genetic background,espeially in children's treatment.

Content Determination of Cyproheptadine Hydrochloride in Fuyan Cream by Simultaneous Equations / 中国药房

OBJECTIVE:To establish a method for content determination of cyproheptadine hydrochloride in fuyan cream.METHODS:Ultraviolet spectophotometry was applied to determine the contents of cyprohepatadine hydrochloride as well as its adjuvant as two coexisting components without isolation and extraction,the wavelengths were286nm and258nm res_ pectively,linear regression and simultaneous equations were used to analyze the results.RESULTS:Cyproheptadine hydrochlor_ ide and its adjuvant showed good linear relationship in the range of2.52～25.2and2.5022～25.022?g/ml respectively,the average recovery of cyproheptadine hydrochloride was98.61%(RSD=1.08%).CONCLUSION:The present method is simple,convenient,reproducible and reliable,which is suitable for rapid determination for fuyan cream.