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1.
AIMS/BACKGROUND: To characterise clinically a large kindred segregating retinitis pigmentosa and sensorineural hearing impairment in an autosomal dominant pattern and perform genetic linkage studies in this family. Extensive linkage analysis in this family had previously excluded the majority of loci shown to be involved in the aetiologies of RP, some other forms of inherited retinal degeneration, and inherited deafness. METHODS: Members of the family were subjected to detailed ophthalmic and audiological assessment. In addition, some family members underwent skeletal muscle biopsy, electromyography, and electrocardiography. Linkage analysis using anonymous microsatellite markers was performed on DNA samples from all living members of the pedigree. RESULTS: Patients in this kindred have a retinopathy typical of retinitis pigmentosa in addition to a hearing impairment. Those members of the pedigree examined demonstrated a subclinical myopathy, as evidence by abnormal skeletal muscle histology, electromyography, and electrocardiography. LOD scores of Zmax = 3.75 (theta = 0.10), Zmax = 3.41 (theta = 0.10), and Zmax = 3.25 (theta = 0.15) respectively were obtained with the markers D9S118, D9S121, and ASS, located on chromosome 9q34-qter, suggesting that the causative gene in this family may lie on the long arm (q) of chromosome 9. CONCLUSIONS: These data indicate that the gene responsible for the phenotype in this kindred is located on chromosome 9 q. These data, together with evidence that a murine deafness gene is located in a syntenic area of the mouse genome, should direct the research community to consider this area as a candidate region for retinopathy and/or deafness genes.  相似文献   
2.
Neonatal Holstein heifer (n = 72) and bull (n = 40) calves were used to study the effects of Aspergillus oryzae fermentation extract (Amaferm) on their performance and on rumen development. The starter diets were formulated to achieve Amaferm consumption of 0, .5, 1, or 3 g per calf daily. Calves were fed milk daily and allowed to consume starter and a mixture of alfalfa and bromegrass hay ad libitum. Weaning was when calves consumed 550 g of starter on 2 consecutive d. Weight gain and feed consumption were recorded weekly. Forty of the heifer calves, 10 from each treatment, were selected randomly to study the effects of Amaferm on ruminal fermentative development. Ruminal fluid samples were collected for pH, ruminal fermentation products, and for bacterial enumerations. Overall, Amaferm-supplemented calves were weaned 1 wk earlier than unsupplemented calves. They had higher total VFA, propionate, and acetate concentrations in the rumen than unsupplemented calves. Total anaerobic, hemicellulolytic, and pectinolytic bacterial counts were higher; cellulolytic bacterial counts tended to be higher for the Amaferm-supplemented calves than for controls. In general, Amaferm-supplemented calves had greater ruminal microbial activity than those not fed Amaferm.  相似文献   
3.
Several methods were utilized to visualize the structure and orientation of the blastocoelic extracellular matrix (ECM) in Strongylocentrotus purpuratus embryos at the mesenchyme blastula stage. Rapid freezing in liquid propane cooled to LN2 temperatures followed by freeze substitution was used to preserve the ECM without shrinkage due to dehydration. Scanning, transmission, and light microscopy were employed to elucidate the ECMs' structure. The blastocoelic ECM consisted of parallel fibrillar sheets that were interconnected by finer filaments and oriented along the animal-vegetal axis. The ECM completely filled the blastocoelic cavity as viewed by scanning electron microscopy. The basal lamina could be distinguished from the blastocoelic ECM as a thin coat on the plasma membrane of epithelial cells; the ECM was in contact with this coat. In contrast, the blastocoelic ECM attached directly to the plasma membrane of primary mesenchyme cells (PMC) which did not possess a basal lamina. The blastocoelic ECM was isolated as an intact "bag" and probed in a hydrated state with Con A and alcian blue. Confocal microscopy confirmed that the entire blastocoel was filled with a fibrillar ECM. These approaches offer advantages for future studies of the ECMs of sea urchin embryos and their roles in gastrulation.  相似文献   
4.
Morrill R 《环境与规划A辑》1994,26(11):1,699-1,710
"This author examines patterns of age-specific migration between 1980 and 1990 for a small, growing region, the Pacific Northwest of the U.S.A., with the purpose of assessing the degree of geographic diversity in experience. A simple typology of the expected spatial and structural pattern of age-specific migration is proposed. Cluster analysis is used to group counties on the basis of age-specific rates of net migration. Even this fairly small region is found to exemplify most of the patterns that might be expected to occur in the nation as a whole."  相似文献   
5.
This analysis of regional demographic change evaluates the roles of aging in place and of age-specific migration on the geographic pattern of the advent of natural decrease in the United States. The spread of natural decrease is projected on the basis of recent births and deaths, in the absence of migration. Age-specific migration data for Oregon and Washington are used to develop a typology of counties that can be used in turn to modify the probable timing of natural decrease.  相似文献   
6.
The photoinitiated polymerization of (meth)acrylate monomers bearing novel carbamate functionality exhibits significantly greater reaction rate when compared to more traditional acrylate monomers undergoing similar polymerization. This unusually fast reactivity has been the subject of much investigation. In order to suggest an explanatory mechanism for the enhanced polymerization rates we have conducted quantitative structure-activity relationship investigations of these novel monomers. These studies have resulted in statistically sound models with coefficients of multiple determination of R(2)>0.93. Principal component and k nearest neighbor similarity analysis were also conducted on the multiple regression models. These results are discussed in light of published experimental investigations of the photopolymerization reactivity of the novel monomers.  相似文献   
7.
Thirty-two male calves (8/treatment) in Trial 1 and 41 male and female calves (10 or 11/treatment) in Trial 2 were fed milk replacers containing 100% of the total protein from milk sources or 25% from milk and 75% from a soy product: soy protein concentrate; commercial heated (fully cooked) soy flour; or experimental soy flour for 6 wk. The experimental flour received moist heat sufficient to reduce trypsin inhibitor to 1 unit/mg. Calf performance improved with age on all diets. Growth, protein and dry matter digestibility, nitrogen retention, and morphology of the intestinal mucosa of calves on the all milk-protein diet were superior to those of calves on diets containing a soy product. All soy-fed groups had a humoral but no cell-mediated immune reaction to soy proteins. Soy protein concentrate and the experimental heated soy flour were superior to the commercial heated soy flour as protein sources for milk replacer.  相似文献   
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