[Analysis of Genome-Wide DNA Methylation Differences in Umbilical Cord Blood Nucleated Red Blood Cells Between Term and Preterm Infants].

OBJECTIVE: To analyze the genome-wide DNA methylation differences in umbilical cord blood nucleated red blood cells (NRBCs) between term and preterm infants by using the methylation gene chip technology, and to screen the genes of differential methylation and biological signaling pathways which may be related to the expression of γ-globin gene (HBG). METHODS: Umbilical cord bloods of eight term infants and eight preterm infants were collected, and NRBCs of each sample was isolated, then genome DNA was extracted and bisulfite conversion was performed. The DNA methylation sites were detected by using the Illumina 850K BeadChip. Differential DNA methylation sites were screened, and the function of genes with differential methylation was analyzed by using GO and KEGG enrichment analysis. RESULTS: Compared with the preterm group, 4749 differential DNA methylation sites of term group were screened out, including 4359 hypomethylation sites and 390 hypermethylation sites. GO and KEGG analysis indicated that the function of genes with differential methylation mainly involved in the hemopoietic system, growth and development process, Wnt and Notch signal pathways. CONCLUSION: The differentical methylation sites at genome-wide level in umbilicar cord blood NRBC of term and preterm infants have been obtained, and the signal pathway and genes which possibily related with swiching the expression of γ-globin gene to ß-globin gene have been screened-out. This study provide the new targets for studing the mechamism regulating expression of HBG gene.

Differential expression of microRNAs in plasma of patients with prediabetes and newly diagnosed type 2 diabetes.

AIMS: MicroRNAs (miRNAs) are present in plasma and have emerged as critical regulators of gene expression at posttranscriptional level, and thus are involved in various human diseases, including diabetes. The objective of this study was to screen and validate differentially expressed plasma miRNAs in prediabetes and newly diagnosed type 2 diabetes (T2D). METHODS: In this study, we screened differentially expressed plasma miRNAs in prediabetes and newly diagnosed T2D by miRNA microarray analysis, and validated the expression of candidate miRNAs using quantitative reverse transcription polymerase chain reaction assays. Furthermore, we performed gene ontology (GO) and Kyoto encyclopedia of genes and genomes (KEGG) pathway analyses to disclose functional enrichment of genes predicted to be regulated by the differentially expressed miRNAs. RESULTS: Notably, our results revealed that hsa-miR-1249, hsa-miR-320b, and hsa-miR-572 (P < 0.05) were differentially expressed among the three groups, which yielded an area under the receiver operator characteristics curve (AUC) of 0.784 [95 % confidence interval (CI) 0.685-0.883], 0.946 (95 % CI 0.906-0.985), and 0.843 (95 % CI 0.766-0.920) discriminating T2D patients from NGT control groups, respectively, while the AUC was 0.887 (95 % CI 0.818-0.957), 0.635 (95 % CI 0.525-0.744), and 0.69 (95 % CI 0.580-0.793) discriminating prediabetes patients from NGT control groups, respectively. In addition, GO and KEGG pathway analyses showed that genes predicted to be regulated by differentially expressed miRNAs were significantly enriched in several related biological processes and pathways, including the development of multicellular organisms, signal transduction, cell differentiation, apoptosis, cell metabolism, ion transport regulation, and other biological functions. CONCLUSIONS: Taken together, our results showed differentially expressed miRNAs in T2D and prediabetes. Plasma hsa-miR-1249, hsa-miR-320b, and hsa-miR-572 may serve as novel biomarkers for diagnosis and potential targets for the treatment for prediabetes and T2D.

Influence of GGCX genotype on warfarin dose requirements in Chinese patients.

INTRODUCTION: It has been widely accepted that genetic factors were the major sources of the variation in warfarin dose. This study is intended to investigate whether the 3261G>A variation in GGCX gene influences stable warfarin dose in Chinese patient population. MATERIALS AND METHODS: A total of 217 patients with stable warfarin dose were enrolled. Genomic DNA was extracted from each subject and the genotype of GGCX 3261G>A was determined by using of denaturing high-performance liquid chromatography (DHPLC). Least significant difference tests (LSDs) were used to compare dose with genotypes. Analysis of variance (ANVOA) was used to calculate the proportion of warfarin dose that could be explained by variation in genotype. RESULTS: In the total of 217 subjects, 84 patients (38.7%) were GG homozygote, whereas 117 (53.9%) were GA heterozygote and 16 (7.4%) were AA homozygote. Patients with the GGCX 3261AA genotype had a significantly higher average daily maintenance dose (3.39 ± 1.40 mg) than those with the GG genotype (2.69 ± 1.07 mg; P=0.027), and GGCX 3261G>A explains 2.3% of the univariate warfarin dose variance. CONCLUSION: GGCX 3261G>A may affect warfarin dose requirements, and showed a small but significant effect on warfarin dose in a Chinese patient population.

[Analysis of deafness gene mutations by gene chip and its clinical significance].

OBJECTIVE: To analyze deafness gene mutations by genechip. METHOD: The peripheral blood samples were obtained and DNA templates were extracted by extraction kits. The deafness gene mutations were distinguished by genechip. RESULT: Among 42 patients with non-syndromic hearing loss, GJB2 235delC was found in 11 cases (7 cases were homozygosis, 4 cases were heterozygosis); 4 cases were shown to carry the PDS IVS7-2A>G mutation. CONCLUSION: The incidence of GJB2 gene and PDS IVS7-2A>G mutations among the deaf- mute children in Guiyang city is 38.10%. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss.