ABSTRACT
Interstitial lung disease(ILD)is a group of heterogeneous diseases with common features in clinic(oxygenation disorder)-imaging(diffuse lesion signs)-pathology(inflammation and fibrosis), but different etiology.The etiological spectrum of ILD in children is significantly different from that in adults, among which genetic defect play an important role.The common genetic defect is associated with pulmonary surfactant metabolism, in recent years, it has been found that the genetic defect of some lung development, immune/autoinflammation, metabolism also can lead to ILD in children.With the development of gene technology, more and more etiology will be found.
ABSTRACT
Objective@#To detect potential mutations of the coagulation factor Ⅶ (F7) gene in a pedigree affected with hereditary FⅦ deficiency and explore its molecular pathogenesis.@*Methods@#The FⅦ antigen (FⅦ∶Ag) was analyzed by an enzyme-linked immunosorbent assay (ELISA) method. Prothrombin time (PT), FⅦ activity (FⅦ∶C) and other coagulant parameters were quantified with an one-stage clotting assay. The F7 gene was amplified by PCR and sequenced. Mutational sites were confirmed by reverse sequencing. Impact of amino acid substitution was assessed using SIFT and PolyPhen-2 software. Structure of the mutant protein was analyzed using Swiss-pdb Viewer software based on the three-dimensional structure in the Protein Data Bank.@*Results@#The propositus had prolonged PT (36.3 s), with FⅦ∶C and FⅦ∶Ag significantly reduced to 2% and 44%, respectively. Her father, mother, younger sister and daughter had slightly prolonged PT and reduced FⅦ∶C (86%-120%). The FⅦ∶Ag of her father and younger sister were also reduced. DNA sequencing revealed that the propositus has carried compound heterozygous mutations (Lys341Glu and IVS6-1G>A) of the F7 gene. Her father and younger sister were heterozygous for the IVS6-1G>A mutation, while her mother and daughter were heterozygous for the Lys341Glu mutation. Bioinformatics analysis indicated that Lys341Glu mutation may affect the stability and function of the FⅦ protein.@*Conclusion@#The Lys341Glu and IVS6-1G>A mutations probably underlie the reduced activity of FⅦ in this pedigree.
ABSTRACT
Objective To understand the present situation of the rate of carry genetic defect in Unmarried young men with thalassaemia in Shenzhen,which will provide a scientific basis for correct mating.Methods Randomly selected 6 182 cases of unmarried young people from March 2014 to October 2015 to hospital physical examination,Used Sysmex XN-9000 auto-matic blood cell sextant and erythrocyte osmotic fragility test to sccreen preliminarily for globin generation barrier anemia. The average red blood cell volume (MCV)≤82 fl and the average content of red blood cell (MCH)≤27 pg or osmotic fra-gility of red blood cells rate<60% of the population was made hemoglobin electrophoresis analysis.To early screening posi-tive by PCR,it was done reverse dot hybridization method for gene diagnosis,and the results were analyzed.Results 6 182 cases of unmarried young men at the beginning of globin generation barrier anemia screen positive rate was 17.3% (1 069/6 182),including suspectedα-was 12.2% (752/6 182)and suspiciousβ-was 5.1% (317/6 182).Gene diagnosis of globin generation barrier anemia positive rate was 11.6% (717/6 182),theα-was 6.7% (413/6 182),β-was 3.4% (209/6 182) and compoundαβ-was 1.5% (95/6 182).α-genetic defect types were mainly--SEA/αα,-α3.7/ααand-α4.2/ααand defect rate were 60.8%,23.5% and 10.4%,respectively.β-gene defect types are mainly CD41/42,CD17 and-28,defect rate were 41.1%,28.2% and 12.9%,respectively.Conclusion Unmarried young men in shenzhen area globin generation barrier ane-mia has certain carrying rate,local family planning department attaches great importance to it.Strengthen the unmarried young men globin generation barrier anemia screening,to guide the healthy birth mating and prevention of severe pauper’s birth,improve the rate of eugenic and superior nurture,has the vital significance.
ABSTRACT
La talla baja es una condición que afecta el crecimiento lineal en el proceso de desarrollo del individuo es ocasionada por múltiples factores pero con un fuerte componente genético. En los últimos años, se ha incrementado el conocimiento de las causas genéticamente determinadas de talla baja debido a reporte de pacientes con características especiales, quienes han ofrecido una excelente oportunidad para estudiar genes que juegan un papel crucial en el crecimiento. En esta revisión se delinea, desde la perspectiva de un médico genetista, un flujograma diagnóstico a ser considerado en todo paciente con talla baja.
Short stature is a condition affecting the body growth in the development process of an individual which is caused by multiples factors, but with a strong component genetic. In the last few years, our knowledge of genetically determined causes of short stature has greatly increased by reports of challenging patients, who offered the opportunity to study genes that play a role in growth. In this review, a diagnostic flow chart is delinead to consider in all patients with short stature from the perspective of a medical geneticist.