ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation in a family affected with congenital dyserythropoietic anemia type II (CDA II).</p><p><b>METHODS</b>Targeted sequence capture and next-generation sequencing (NGS) were used to analyze the exons and exon-intron boundaries of the SEC23B gene in a clinically suspected CDA II patient. Genotypes of the relatives were validated by Sanger sequencing. Potential impact of amino acid substitution on the structure and function of SEC23B protein was predicted with MutationTaster and PolyPhen-2. The protein structure was predicted with SWISS-MODEL software.</p><p><b>RESULTS</b>The proband was found to harbor double heterozygous mutations of the SEC23B gene, c.1727T>C (p.F576S) and c.1831C>T (p.R611W), which resulted in amino acid substitutions p.F576S and p.R611W. Both mutations were confirmed by Sanger sequencing. The sister of the proband was found to have carried c.1727T>C (p.F576S), while her father and son have carried c.1831C>T (p.R611W) mutation. In addition, the proband was detected to have carried c.211C>T (p.R71X) of the HFE gene, which resulted in substitution of arginine by a stop codon. The impact of above mutations on the structure or function of protein was predicted to be harmful. Splenectomy and iron chelation therapy have achieved effective improvement of anemia and iron overload. Computer simulation suggested that the mutations have altered the 3D structure of the SEC23B protein.</p><p><b>CONCLUSION</b>The novel compound mutations of c.1727T>C and c.1831C>T of the SEC23B gene probably underlie the CDA II in the family, and there is a strong correlation between the genotype and phenotype.</p>
Subject(s)
Adult , Female , Humans , Anemia, Dyserythropoietic, Congenital , Genetics , Computer Simulation , Family , Genotype , High-Throughput Nucleotide Sequencing , Mutation , Phenotype , Vesicular Transport Proteins , GeneticsABSTRACT
Neutrophil ( PMN) is the main immune effect cell of killing candida yeast cells .It can recognize different cellular components of candida through a variety of surface and intracellular pattern recognition receptors , phagocytose and/or form extracellular traps to capture candida yeast and mycelia , then kill them with oxidation or non-oxidation mechanism .It can also adjust innate immunity and adaptive immune response in candida infection by interaction with other immune cells .This article reviews recent progress of the multiple subsets of neutrophil , the mechanism of its recognizing and killing candida , and the interaction with other immune cells , to provide new perspectives for clinical therapy of candida infections .
ABSTRACT
Objective To investigate impaired fasting glucose(IFG)status of office worker and enterprise personnel in Shiji-azhuang area,for providing a basis for early prevention of diabetes mellitus.Methods The fasting blood glucose level of 109 083 of-fice workers and enterprise personnel in Shijiazhuang area were detected in physical examination in 2012.Results The people of IFG (fasting blood glucose 5.6-<7.0 mmol/L)accounted for 14.61% in all subjects,1 6.61% in men,10.23% in women.3.5 1%male of the 18-<21 years old group were IFG.With the increasing of age,the ratio of IFG people gradually rised to a peak of 30.44% at the age group of 71-<76,and then decreased a little.While the proportion of female with IFG was 1.55% at 18-<21 years old group,with the increasing of age,to the age group of 5 1 - < 56 reached the first peak 20.27%,then decreased at the 56-<61 age group.Rapidly rising again,up to 31.74% the second peak in 76-<81 age group,and then decreased a little.Conclu-sion The proportion of IFG in male is higher than that in female.The proportion of IFG increases with age,and reaches the peak in a certain age (over 70 years old),and then at a relatively stable level.