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31.
Maternal factors in onset of Huntington disease.   总被引:11,自引:7,他引:4       下载免费PDF全文
Analyses of father-offspring and mother-offspring similarity in onset age suggest that nuclear genes account for a significant portion of the modification of onset age in Huntington disease. The effects of non-nuclear modifiers are supported by the finding that the offspring of affected women have significantly older mean ages of onset than offspring of affected men irrespective of the onset age in the parent. The absence of increased father-daughter similarity indicates that modification is not X-linked. The absence of reproductive advantage for late-onset individuals and the absence of a multigenerational maternal-lineage effect suggest that the modifying effect of the sex of the affected parent occurs in a single parental generation. Offspring of affected women with onset between ages 35 and 49 had a significantly older mean onset age than their mothers. This suggests that a protective effect may be conferred upon the offspring of affected women.  相似文献   
32.
Histochemical demonstration of peptidases in the human kidney   总被引:2,自引:0,他引:2  
The localization of several peptidases in the human kidney was investigated histochemically. The membrane-bound peptidases, aminopeptidase A (APA), aminopeptidase M, gamma-glutamyltransferase (gamma-GT) and dipeptidylpeptidase IV, were mainly demonstrable in the brush border of the proximal tubule. In addition, APA was found in the glomeruli, while gamma-GT was found in the basal labyrinth of the proximal tubule. The lysosomal peptidases, dipeptidylpeptidase I and cathepsin B, were most strongly concentrated in the different-sized lysosomes of the proximal tubule, but they were also found in the small lysosomes of the distal tubule. Dipeptidylpeptidase II showed only a weak reaction in lysosomes of the proximal tubule. It is concluded that, in comparison with other previously studied species, the human kidney has a well-developed equipment with membrane-bound and lysosomal peptidases.  相似文献   
33.
Adult male Saguinus mystax tamarins were evaluated for sperm parameters and testicular volumes. Sperm concentrations average 195.5 X 10(6)/cc with 41.7% motile sperm. Semen specimens were classified as normal, relative to sperm morphology, when 95% or more of the sperm in the specimen had normal morphology; 76% of the animals evaluated had normal semen specimens using this criterion. Testicular volumes averaged 726.9 mm3. A total of 50 infants were sired by 16 of these males during the period covered by this report.  相似文献   
34.
An essential feature of the "fluid mosaic model" (Singer, S. J., and G. L. Nicolson , 1972, Science (Wash. DC)., 175:720-731) of the cell plasma membrane is the ability of membrane lipids and proteins to diffuse laterally in the plane of the membrane. Mammalian sperm are capable of overcoming free random diffusion and restricting specific membrane components, both lipid and protein, to defined regions of the sperm's surface. The patterns of these regionalizations evolve with the processes of sperm differentiation: spermatogenesis, epididymal maturation, and capacitation. We have used the technique of fluorescence recovery after photobleaching to measure the diffusion of the lipid analogue 1,1'- dihexadecyl 3,3,3',3'- tetramethylindocarbocyanine perchlorate ( C16dil ) on the different morphological regions of testicular and ejaculated ram spermatozoa. We have found: (a) that the major morphologically distinct regions (head, midpiece, and tail) of the plasma membrane of both testicular and ejaculated spermatozoa are also physically distinct as measured by C16dil diffusibility; (b) that despite regional differences in diffusibility there is exchange of this lipid analogue by lateral diffusion between the major morphological regions of the plasma membrane; and (c) that epididymal maturation results in changes in C16dil diffusibility in the different regions of the sperm plasma membrane. In particular, the plasma membranes of the anterior and posterior heads become physically distinct.  相似文献   
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The sex pheromone alpha-factor of Saccharomyces cerevisiae, a tridecapeptide of approx. 1,700 molecular weight, was found to be synthesized in vivo as a high molecular weight precursor of Mr = 28,000. Inhibition of N-linked glycosylation by tunicamycin leads to three precursor species of lower molecular weight indicating three carbohydrate residues linked to the alpha-factor precursor molecule. A molecular weight of 18,000 was determined for the unglycosylated molecule.  相似文献   
37.
The production of solid d-arabino-hexos-2-ulose (d-glucosone) from d-glucose by use of an enzyme, pyranose-2-oxidase (EC 1.1.3.10), is described. The enzyme is extracted from the mycelia of Polyporus obtusus, partially purified, and then immobilized on activated CH-Sepharose 4B. The enzymic conversion of d-glucose into d-glucosone is simple and convenient, and provides a product free from residual d-glucose. Lyophilization of the filtered reaction-solution yields the product, solid d-glucosone. Assay methods have been developed for monitoring the enzymic reaction and evaluating the purity of the final product.  相似文献   
38.
Hilgendorf’s (1866) publication on the phylogenyof Planorbis multiformis from Steinheim, Swabian Mountains, is one of the most important contributions of paleontology to early Darwinism. At the same time it helped to lay the foundation for paleontological phylogenetics. Hilgendorf’s unpublished dissertation of 1863, the newly rediscovered collection to his dissertation and the document-file ofHilgendorf’s graduation from Tübingen University help to trace back the origin of Hilgendorf’s ideas.Hilgendorf’s collection contains the oldest phylogenetic tree, which is known so far.  相似文献   
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