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81.
APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis 总被引:11,自引:0,他引:11
Rob B. van der Luijt Hans F. A. Vasen Carli M. J. Tops Cor Breukel Riccardo Fodde P. Meera Khan 《Human genetics》1995,96(6):705-710
Germ-line mutations in the adenomatous polyposis coli (APC) gene are responsible for familial adenomatous polyposis (FAP). Genotype-phenotype correlation studies in patients with FAP have demonstrated associations of certain variants of the disease with mutations at specific sites within the APC gene. In a large FAP family, we identified a frameshift mutation located in the alternatively spliced region of exon 9. Phenotypic studies of affected family members showed that the clinical course of FAP was delayed, with gastrointestinal symptoms and death from colorectal carcinoma occurring on average 25 and 20 years later than usual, respectively. The numbers of colorectal adenomas differed markedly among affected individuals and the location of colorectal cancer lay frequently in the proximal colon. Our findings suggest that the exon 9 mutation identified in the pedigree is associated with late onset of FAP. The atypical phenotype may be explained by the site of the mutation in the APC gene. Analysis of the APC protein product indicated that the exon 9 mutation did not result in a detectable truncated APC protein. Given the location of the mutation within an alternatively spliced exon of APC, it is conceivable that normal APC proteins are produced from the mutant allele by alternative splicing. 相似文献
82.
V M Rajendran A Berteloot Y Ishikawa A H Khan K Ramaswamy 《Biochimica et biophysica acta》1984,778(3):443-448
The characteristics of carnosine (beta-alanyl-L-histidine) transport have been studied using purified brush-border membrane vesicles from mouse small intestine. Uptake curves did not exhibit any overshoot phenomena, and were similar under Na+, K+ or choline+ gradient conditions (extravesicular greater than intravesicular). However, uptake of histidine showed an overshoot phenomenon in the presence of a Na+-gradient. There was no detectable hydrolysis of carnosine during 15 min of incubation with membrane vesicles under conditions used for transport experiments. Analysis of intravesicular contents further showed the complete absence of the constituent free amino acids of carnosine, and indicates that intact carnosine is transported. Studies on the effect of concentration on peptide uptake revealed that transport occurred by a saturable process conforming to Michaelis-Menten kinetics with a Km of 9.6 +/- 1.4 mM and a Vmax of 2.9 +/- 0.2 nmol/mg protein per 0.4 min. Uptake of carnosine was inhibited by both di- and tripeptides with a maximum inhibition of 68% by glycyl-L-leucyltyrosine. These results clearly demonstrate that carnosine is transported intact by a carrier-mediated, Na+-independent process. 相似文献
83.
The chick brain microtubule-associated protein MAP2 can be phosphorylated in vitro to the extent of 12 mol/mol with GTP at the same sites as can be labelled by the cyclic AMP-independent protein kinase utilizing [gamma-32P]ATP as the phosphoryl donor. Consequently, the microtubule protein is chemically modified by the conditions usually employed for studies of microtubule assembly, so that the derived kinetic parameters may not relate to steady-state conditions. 相似文献
84.
Microbial mineralization of organic phosphate in soil 总被引:35,自引:0,他引:35
Summary Phosphate-dissolving microorganisms were isolated from non-rhizosphere and rhizosphere of plants. These isolates included
bacteria, fungi and actinomycetes. In broth cultures, Gram-negative short rod,Bacillus andStreptomyces species were found to be more active in solubilizing phosphate thanAspergillus, Penicillium, Proteus, Serratia, Pseudomonas andMicrococcus spp. The sterile soils mixed with isolated pure culture showed slower mineralization of organic phosphate than that of non-sterile
soil samples at all incubation periods. Maximum amount of phosphate mineralization by isolated microorganisms were obtained
at the 60th and the 75th day of incubation in sterile and non-sterile soils respectively. The mixed cultures were most effective
in mineralizing organic phosphate and individuallyBacillus sp. could be ranked next to mixed cultures. Species ofPseudomonas andMicrococcus were almost the same as that of the control under both sterile and non-sterile conditions. 相似文献
85.
Allergic bronchopulmonary aspergillosis (ABPA): Studies on the general and specific humoral response
Serum specimens from 138 patients suffering from chronic respiratory disorders including 63 with allergic bronchopulmonary aspergillosis (ABPA), 20 with suspected ABPA, 25 with pulmonary tuberculosis, 14 with bronchial asthma, 10 with chronic bronchitis and 6 with miscellaneous pulmonary conditions were studied for circulating antibodies to Aspergillus. The ammonium sulfate test was employed with an iodine-125 labeled mycelial component derived from Aspergillus fumigatus. When compared to normal controls from the same area, this test indicated that sera from 82 per cent of patients with ABPA had elevated binding titers to the radiolabeled antigenic component. Immunodiffusion using a culture filtrate antigen from A. fumigatus, revealed precipitating antibody to this fungus in 89 per cent of sera from ABPA patients. The majority of patients with ABPA demonstrated marked elevations of total serum IgE, moderate elevations of serum IgA and IgD and slightly increased levels of IgG and IgM.This study was supported in part by Research Grant AI 10940 from the National Institutes of Health and by NHLI Contract N01-HL-3-2942(B), and forms a part of the Ph.D. thesis submitted by Z.U.K. to the University of Delhi. 相似文献
86.
Localization of a gene for human α-galactosidase B (=N-Acetyl-α-D-Galactosaminidase) on chromosome 22 总被引:1,自引:0,他引:1
Summary The localization of the structural gene for human -galactosidase B (=N-acetyl--galactosaminidase) was investigated by means of man-Chinese hamster and man-mouse somatic cell hybrids. The hybrid clones were analyzed for chromosomes and for a large number of known enzyme markers. The lysates of the hybrid cells were treated with Sepharose-coupled antihuman -galactosidase B and the activity of the adsorbed enzyme was measured on the Sepharose beads as N-acetyl--galactosominidase. The results show that the structural gene for human -galactosidase B is situated on chromosome 22, and that there is no structural relationship between human -galactosidase A and human -galactosidase B. 相似文献
87.
Photodynamic treatment of herpes simplex virus type 1-infected hamster embryo fibroblasts (LSH strain) with a low concentration of proflavine (0.08 mug/10(5) cells per ml), a 3-9-diamine acridine dye, inhibited production not only of infectious progeny but also of virion particles. However, there was no appreciable inhibition of viral or cellular DNA synthesis, even when the infected cells were repeatedly exposed to this low concentration of dye and light during the replication cycle of the virus. It thus appears that photodynamic treatment of infected cells interferes with the processes involved in virus maturation. 相似文献
88.
Feline leukemia virus: biochemical and immunological characterization of gag gene-coded structural proteins. 总被引:18,自引:12,他引:6 下载免费PDF全文
The major non-glycosylated structural proteins of feline leukemia virus have been isolated, and competition immunoassays have been developed for each. These proteins include the 27,000- to 30,000-molecular-weight major internal antigen designated p30, a 15,000-molecular-weight protein (p15), an acidic protein of 12,000 molecular weight (p12), and a highly basic 10,000-molecular-weight protein (p10). Immunologically and biochemically corresponding proteins of feline and murine leukemia viruses have been identified. and, on the basis of analogy to the known sequence of a prototype type C virus of mouse origin, the map order of the gag region of the feline type C viral genome has been tentatively deduced as NH2-p15-p12-p10-COOH. The demonstration of two feline leukemia virus gag gene-coded proteins, p15 and p12, expressed in the form of an uncleaved precursor in a mink cell line nonproductively transformed by feline sarcoma virus provides indirect support for the proposed sequence. 相似文献
89.
Nasim A. Khan 《Molecular & general genetics : MGG》1982,186(1):40-43
Summary A small percentage of the primary petites isolated from strain 1403-7A-P1, constitutive for maltase synthesis, simultaneously lost the ability to utilize maltose and alpha-methylglucoside. Further studies showed that these primary petites were not stable with respect to maltose utilization. Approximately 30% of the secondary petites when isolated from the primary petites after vegetative growth were found to papillate on maltose plates. Tetrad analysis data revealed that a nuclear gene has reverted in these papillae, which is responsible for suppression of the maltose negative phenotype in primary petites. We have designated this nuclear gene as the PMU1 gene (petite maltose utilizer). The functional form of the PMU1 gene is required in addition to the MAL4 gene for both constitutive maltase synthesis and maltose utilization in cytoplasmic petite cells derived from strain 1403-7A-P1. 相似文献
90.
Ketan Shah Iqbal Mehdi A. W. Khan V. C. Vora 《Applied microbiology and biotechnology》1980,10(1-2):167-169
Summary
Arthrobacter
simplex, Serratia
marcescens, Fusarium and Mycobacterium were tested for their ability to transform phytosterol to Androsta 1, 4 diene 3, 17 dione (ADD). Arthrobacter
simplex ATCC 6946 was found to be more efficient than the other species tested. 相似文献