Dynamic changes of intestinal 16S rDNA metagenome in 5 infants / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To investigate the dynamic changes of intestinal 16S rDNA metagenome in healthy infants.</p><p><b>METHODS</b>Seventeen fecal samples were collected at ages of 3 days, 1 month, 6 months and 1 year in 5 infants. Total bacterial DNAs were extracted and submitted high throughout sequencing on the V6 viable region of 16S rDNA. Tags and Operational Taxonomic Units (OTU) were then obtained and analysis of taxonomy, abundance and alpha diversity were performed.</p><p><b>RESULTS</b>In total 2,190.66 Mbp raw data in 17 samples were produced. The OTU numbers ranged from 36 to 308. The dominate phylum included Proteobacteria, Firmicutes and Bacteroidetes and Actinobacteria. The bacterial families>1% increased from only 2-4 per sample on day 3 to 7 at 1 or 6 months, 10 at 12 months. The average npShannon and Simpson index on day 3, at 1 month, 6 months and 1 year were 1.117, 1.460, 2.088, 2.50 and 0.443, 0.408, 0.229, 0.143 respectively.</p><p><b>CONCLUSIONS</b>Infants' intestines harbor abounding bacterial genomes. Distinct individual differences exist in infants in terms of intestinal bacterial abundance and composition. The abundance and diversity of gut bacteria increase over time.</p>

Genetic diagnosis and prenatal diagnosis of Angelman syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the conventional cytogenetic methods in genetic diagnosis and prenatal diagnosis in the family with a proband of Angelman syndrome (AS).</p><p><b>METHODS</b>High-resolution G-banding karyotyping and fluorescence in situ hybridization (FISH) on metaphase chromosomes were performed.</p><p><b>RESULTS</b>Two AS patients and 1 normal fetus in the family were successfully detected by FISH.</p><p><b>CONCLUSION</b>Our result demonstrated that patient with type I AS could be detected by combining the techniques of high-resolution G-banding and FISH with clinical observation, which would offer accurate genetic counseling information to the geneticists and provide the prenatal diagnosis for the AS family.</p>

Identification and the mRNA expression of HS1-associated protein X-1 in the peripheral blood mononuclear cells of patients with systemic lupus erythematosus / 中华风湿病学杂志

Objective To study the mRNA expression of HS1-associated protein X-1(Hax-1),an an- ti-apoptosis genc,in the peripheral blood mononuclear cells(PBMC)of patients with systemic lupus erythe- matosus(SLE),and further investigate the roles and significance of Hax-1 in the pathogenesis of SLE.Meth- ods Generation of longer cDNA fragments from serial analysis of gene expression(SAGE)tags for gene identi- fication(GLGI)was applied to identify the gene Hax-1 according to the Long SAGE tag.Then reverse tran- scription-polymerase chain reaction(RT-PCR)technique was used to semiquantitatively analyze mRNA ex- pressions of Hax-1 in PBMC from 34 active SLE patients and 25 healthy subjects.Results Compared with healthy controls,there was significant difference between SLE patients in the active stage and the normal controls(Z=-4.556,P＜0.01).The average level of mRNA expression in active SLE group was higher than that in healthy controls.Significant difference was found between the group with mild SLE and either the moderate or the severe one(P＜0.01).Conclusion The mRNA expression level of Hax-1 in active SLE group increase markedly,and to some extent,it is related to the activity of SLE.This provides a valuable basis for the further study on the role of apoptosis in SLE.