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Objective To investigate the FECH gene mutation in a Chinese family with erythropoietic protoporphyria, to explore the relationship between gene mutation and clinical manifestations so as to estab-lish a basis for the genetic diagnosis and treatment of erythropoietic protoporphyria. Methods Clinical data on a Chinese family with typical EPP was collected. Peripheral blood was obtained from patients, unaffected individuals in the family and 50 unrelated human controls. Genomic DNA was extracted and PCR was per-formed to amplify the whole coding regions (exons 1 to 11) of FECH gene and their flanking intron sequences followed by direct sequencing to detect possible mutations. Results Based on clinical symptom and por-phyrin levels, a diagnosis of erythropoietic protoporphyria was made in 3 family members. DNA fragments of expected size were amplified by PCR. Gene sequencing revealed a heterozygons mutation (IVS1 + 1G >C) in intron 1 of FECH gene in the proband, his sister and father, but not in unaffected family members or unrelated human controls. Also, an IVS1-23C/T polymorphism associated with low expression alleles was observed in intron 1 of FECH gene of the proband, his sister and mother. Conclusions A novel mutation in the donor splice site of intron 1 of FECH gene is first reported in a Chinese family with EPP; this muta-tion may lead to a deficiency of FECH gene and serve as a molecular basis of development of erythropoietic protoporphyria.
RESUMEN
Objective To explore the intervention of erythromycin(EM) on acute lung injury(ALI) in rat model MethodsALI rat model was established by intravenous i njection of oleic acid(OA) EM of 180 mg/kg was injected intraperitoneally t wo h ours before OA challenge in the prevention group and consecutive three days afte r OA challenge in the treatmen group ResultsCompared with con trol group,the aninmals in prevention group and treatmen group had lower lung extent,milder pathomorphological changes and pathologic integral The concentra tion of protein and the numbers of neutrophils and lymphocytes in bronchoalveola r lavage fluid(BALF) were also reduced ConclusionEM may part ly prevent the development of ALI by inhibiting the neutrophil and lymphocyte ac cumulatation in the lung