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A transcribed gene in an intron of the human factor VIII gene 总被引:18,自引:0,他引:18
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《Genomics》1999,55(1):21-27
We report the precise mapping and characterization of the genomic structure of the human homolog of the rat gene for the nucleolar protein NAP57, which has been reported to be responsible for X-linked dyskeratosis congenita (DKC). This single-copy gene, now called DKC, is transcribed from a CpG island 60 kb centromeric to the factor VIII gene in distal Xq28 and lies tail to tail with the palmitoylated erythrocyte membrane protein gene, MPP1. DKC comprises 15 exons spanning at least 16 kb and is transcribed into a widely expressed 2.6-kb message. Several functional motifs of DKC are assigned to coding sequences specified by individual exons. Analysis of normal female DNA revealed the presence of two polymorphisms in the DKC exons, while mutation analysis of a DKC patient identified a novel single amino acid missense mutation in exon 4. The latter together with exon 3 contain five of the six missense mutations reported so far in the DKC gene. 相似文献
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Expression of a cytomegalovirus IE-1-factor VIII cDNA hybrid gene in transgenic mice 总被引:1,自引:0,他引:1
Thomas R. Mikkelsen Barbara Chapman Nanni Din Jørgen Ingerslev Peter Kristensen Knud Poulsen J. Peter Hjorth 《Transgenic research》1992,1(4):164-169
A construct containing the 5′ end of the human cytomegalovirus major immediate early gene fused to the human coagulation factor
VIII cDNA was used to produce transgenic mice. Two out of five transgenic lines transcribed the construct. The expression
was consistently seen in a limited number, of tissues and was highest in muscle tissues. This is in contrast to the almost
ubiquitous activity demonstrated in earlier studies with the IE-1 enhancer/promoter. Human factor VIII protein was detected
immunochemically in muscle tissues at levels several times higher than in human plasma. 相似文献
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Zhihui He Juan Chen Shiyan Xu Shufen Chen Xiao Xiao Hongyi Li Yibin Guo Weiying Jiang 《Cell biochemistry and biophysics》2013,65(3):463-472
Hemophilia A is an x-linked recessive inherited bleeding disorder. So far, more than 1,885 disease-causing mutations of factor VIII gene have been identified. Clinic confers a great challenge for the molecular diagnosis. We aim to make a better strategy for the molecular diagnosis in Hemophilia A. First, factor VIII intron 22 inversion and intron 1 inversion mutations were detected using Inversion-PCR and double-tube multiple PCRs. And then, non-inversion mutations were analyzed by denaturing high performance liquid chromatography and/or direct sequencing. Novel mutations were further analyzed the conservation and 3D structures by a B domain deleted crystallographic model and bioinformatics. Finally, we can indirectly confirm the diagnosis by linkage analysis for the patients with the confusing diagnosis by the techniques mentioned above. Eleven patients with the factor VIII Inv 22 were found, and the remaining 16 patients were found with 11 different mutations, of which 3 was novel mutations affecting A1, B domains and splicing site. Moreover, the prenatal diagnosis was performed on 14 fetuses. Ten fetuses were successfully confirmed to be normal, 1 fetus to be a heterozygote with factor VIII c.3275–3276 ins A and 3 fetuses to be hemizygotes with factor VIII Inv 22 mutation. 相似文献
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To determine the usefulness of MspI/int22h-1 (intron 22 homologous region-1) polymorphism of the factor VIII gene for molecular genetic diagnosis of hemophilia A in the Korean population, MspI/intron 22 and XbaI/intron 22 polymorphisms were analyzed in 101 unrelated Korean families with severe hemophilia A. The expected heterozygosity rates of MspI/int22h-1 and XbaI/int22h-1 polymorphisms were 49.5 and 43.6%, respectively; these polymorphisms were not in complete linkage disequilibrium. Combined analysis using both polymorphisms provided an informative rate of 66.3%. These results suggest that PCR analysis of the MspI/int22h-1 polymorphism of the factor VIII gene would be useful for carrier detection and prenatal diagnosis of hemophilia A in the Korean population. 相似文献
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A dual-vector system was explored for the delivery of the coagulation factor VIII gene, using intein-mediated protein trans-splicing as a means to produce intact functional factor VIII post-translationally. A pair of eukaryotic expression vectors,
expressing Ssp DnaB intein-fused heavy and light chain genes of B-domain deleted factor VIII (BDD-FVIII), was constructed. With transient
co-transfection of the two vectors into 293 and COS-7 cells, the culture supernatants contained (137±23) and (109±22) ng mL−1 spliced BDD-FVIII antigen with an activity of (1.05±0.16) and (0.79±0.23) IU mL−1 for 293 and COS-7 cells, respectively. The spliced BDD-FVIII was also detected in supernatants from a mixture of cells transfected
with inteinfused heavy and light chain genes. The spliced BDD-FVIII protein bands from cell lysates were visualized by Western
blotting. The data demonstrated that intein could be used to transfer the split factor VIII gene and provided valuable information
on factor VIII gene delivery by dual-adeno-associated virus in hemophilia A gene therapy. 相似文献
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A new polymorphism in the factor VIII gene for prenatal diagnosis of hemophilia A. 总被引:20,自引:1,他引:19
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A restriction fragment length polymorphism (RFLP) has been found in the gene for clotting factor VIII. Defects in this gene are the cause of hemophilia A. The DNA polymorphism affects an XbaI site in intron 22 of the gene. Two alleles occur in a frequency of 59 and 41 percent of the X chromosomes tested. Furthermore, about 25 percent of females who are homozygous for the previously reported BclI RFLP in the factor VIII gene are heterozygous for the XbaI polymorphism. This new RFLP thus represents a significant addition to available probes for the DNA-based prenatal diagnosis and carrier detection of this disease. 相似文献