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排序方式: 共有750条查询结果,搜索用时 156 毫秒
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W. D. Wallis 《American anthropologist》1916,18(4):597-601
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Linkage analysis of chromosome 17 markers in British and South African families with neurofibromatosis type 1 下载免费PDF全文
C. G. P. Mathew K. Thorpe D. F. Easton K. S. Chin D. Jadayel M. Ponder G. Moore C. E. Wallis C. P. Slater G. De Jong P. O''''Connell R. White D. Barker B. A. J. Ponder 《American journal of human genetics》1989,44(1):38-40
Nine markers from the pericentromeric region of chromosome 17 were typed in 16 British and five South African families with neurofibromatosis type 1 (NF1). The markers--p17H8, pHHH202, and EW204--were linked to NF1 at recombination fractions less than 1%. No evidence of locus heterogeneity was detected. Inspection of recombinant events in families informative for several markers suggests that the NF1 gene is located between the markers EW301 (cen-p11.2) and EW206 (cen-q12) and possibly distal to pHHH202 (q11.2-q12). 相似文献
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D R Collins T J Knott R J Pease L M Powell S C Wallis S Robertson C R Pullinger R W Milne Y L Marcel S E Humphries 《Nucleic acids research》1988,16(17):8361-8375
Familial hypobetalipoproteinaemia is a rare autosomal dominant disorder in which levels of apo-B-containing plasma lipoproteins are approximately half-normal in heterozygotes and virtually absent in homozygotes. Here we describe mutations of the apo-B gene that cause two different truncated variants of apo-B in unrelated individuals with hypobetalipoproteinaemia. One variant, apo-B(His1795----Met-Trp-Leu-Val-Thr-Term) is predicted to be 1799 amino acids long and arises from deletion of a single nucleotide (G) from leucine codon 1794. This protein was found at low levels in very low density and low density lipoprotein fractions in the blood. The second, shorter variant, apo-B(Arg1306----Term), is caused by mutation of a CpG dinucleotide in arginine codon 1306 converting it to a stop codon and predicting a protein of 1305 residues. The product of this allele could not be detected in the circulation. The differences in size and behaviour of these two variants compared to apo-B100 or apo-B48 point to domains that may be important for the assembly, secretion or stability of apo-B-containing lipoproteins. 相似文献
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Metronidazole, tinidazole and dimetridazole were administered in the drinking water for 5 days to mice experimentally infected with Tritrichomonas muris and Tetratrichomonas microta. Mice were successfully infected with T. muris and T. microta recovered from infected gerbils. The trichomonas infection was successfully eliminated in mice given a 1% sucrose solution containing 2.5 mg/ml metronidazole or tinidazole. Mice receiving 1.0 mg/ml metronidazole, 1.0 mg/ml tinidazole and 1.2, 5.0 and 10.0 mg/ml dimetridazole failed to eliminate the trichomonas organism. A reduction in water intake was only noted with mice receiving 10 mg/ml dimetridazole. In mice receiving only 1% sucrose the infection was not eliminated. 相似文献
8.
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen 总被引:7,自引:3,他引:4
Charles J. Pruchno Daniel H. Cohn Gillian A. Wallis Marcia C. Willing Barbra J. Starman Xiaoming Zhang Peter H. Byers 《Human genetics》1991,87(1):33-40
Summary Most individuals with osteogenesis imperfecta (OI) are heterozygous for dominant mutations in one of the genes that encode the chains of type I collagen. Each of the more than 30 mutations characterized to date has been unique to the affected member (s) of the family. We have determined that two individuals with a progressive deforming variety of OI, OI type III, have the same new dominant mutation [1(I)gly154 to arg] and that two unrelated infants with perinatal lethal OI, OI type II, share a second new dominant muation [1(I)gly1003 to ser]. These mutations occurred at CpG dinucleotides, in a manner consistent with deamination of a methylated cytosine residue, and raise the possibility that CpG dinucleotides are common sites of recurrent mutations in collagen genes. Further, these findings confirm that the OI type-III phenotype, previously thought to be inherited in an autosomal recessive manner, can result from new dominant mutations in the COL1A1 gene of type-I collagen. 相似文献
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A carrier-supported mycelial growth of Penicillium chrysogenum was applied to penicillin fermentation system using celite as a support material. Hyphal growth through the pore matrices of the material showed strong anchorages and provided highly stable biofilm growth. With bioparticles developed in such a manner, both cell growth and penicillin production were observed to increase significantly compared to the conventional dispersed filamentous cultures. Maximum values of specific penicillin production rate were found to be constant regardless of the growth form. A three-phase fluidized-bed fermentor was designed and tested for penicillin production using the bioparticles. Two modes of operation, semicontinuous and repeated fed batch, of the fermentor were tried. It was noted that the overgrowth of free mycelia and the development of fluffy loose bioparticles caused poor mixing and made the fermentor operation quite difficult. Control of the bioparticle size and the extension of production phase were therefore considered important to maintain the reactor productivity at a desired level. From the results of repeated fed-batch operation it was found that the control of bioparticle size could be successfully achieved by phosphate-limiting culture condition. Penicillin production under this condition was also observed to be maintained at a high level (about 80% of the maximum) for at least 1 month. 相似文献
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Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. 总被引:12,自引:0,他引:12 下载免费PDF全文
A F Grobler-Rabie G Wallis D K Brebner P Beighton A J Bester C G Mathew 《The EMBO journal》1985,4(7):1745-1748
Screening of the pro alpha 2(I) collagen genes of Southern African populations for restriction fragment length polymorphisms (RFLPs) has revealed a locus polymorphic for the restriction enzyme RsaI. The frequency of the RFLP was 0.38 in Afrikaners, but much lower in indigenous Southern African populations, which suggests that it is of European origin. The polymorphism was used to study 19 affected and non-affected individuals in a four generation family with the autosomal dominant disorder, osteogenesis imperfecta (OI) type I. Co-inheritance of the loss of the RsaI site and the OI phenotype was observed with a lod score of 3.91 at a recombination fraction (theta) of zero, indicating strong linkage. This suggests that the defect in this family is caused by a structural mutation within or close to the pro alpha 2(I) collagen gene. The use of this high frequency RFLP together with other recently described polymorphisms at this locus will facilitate the analysis of the role of this gene in OI and other inherited disorders of connective tissue. 相似文献