DUOX2 mutations in children with congenital hypothyroidism / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the features of DUOX2 mutations and genotype-phenotype relationship in children with congenital hypothyroidism (CH), in order to provide evidence for gene diagnosis and gene treatment of CH.</p><p><b>METHODS</b>Blood samples were collected from 10 CH children with thyromegaly. Genomic DNA was extracted from peripheral blood leukocytes. All exons of DUOX2 gene were analyzed using PCR and direct sequencing.</p><p><b>RESULTS</b>G3632A mutation in the exon 28 of DUOX2 that may result in arginine to histidine substitution at codon 1211 was found in one patient. T2033C mutation in the exon 17 of DUOX2 that may result in histidine to arginine substitution at codon 678 was found in three patients. They were all heterozygous mutations.</p><p><b>CONCLUSIONS</b>Heterozygous mutations in DUOX2 may affect protein function and cause CH. The relationship between DUOX2 genotypes and clinical phenotypes is unclear and needs further studies.</p>

Changing the Composition of Fatty Acids of Cell Membrane Promotes Breast Cancer Cell to Apoptosis / 中国生物工程杂志

Objective: To study expression of the gene of n-6 fatty acid desaturase fat-1 in human breast cancer cell, composition change of fatty acids of cell membrane, and effect of the gene on apoptosis of breast cancer cell. Methods: Construct recombinant adenovirus vector (Ad.GFP.fat-1) containing fat-1 gene, the recombinant adenovirus was produced in 293 package cell, then it infected the breast cancer cells MCF-7; Total RNA of the cells was isolated and hybridized with antisense RNA probe of fat-1 mRNA by Northern to analyze the expression of fat-1 in MCF-7;The effect of fat-1on the proliferation of MCF-7 cell was analyzed by MTT method,apoptosis of the cells were detected by apoptosis kit;Content of n-6 PUFAs/n-3 PUFAs was analyzed by Gas Chromatography. Results: The proposed recombinant virus was got through DNA recombinant technique; fat-1 gene effectively expressed in human breast cancer cell MCF-7; The fat-1 mRNA band appeared 2 days after infection of virus Ad.GFP.fat-1;Compared with the control cell (Ad.GFP), proliferation of MCF-7 cell was markedly inhibited by the gene fat-1( 23%, p