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121.
A Familial Factor Independent of CAG Repeat Length Influences Age at Onset of Machado-Joseph Disease 总被引:3,自引:0,他引:3
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Anita L. DeStefano L. Adrienne Cupples Patricia Maciel Claudia Gaspar Joao Radvany David M. Dawson Lewis Sudarsky Lee Corwin Paula Coutinho Patrick MacLeod Jorge Sequeiros Guy A. Rouleau Lindsay A. Farrer 《American journal of human genetics》1996,59(1):119-127
Machado-Joseph disease (MJD) is a late-onset, progressive, neurodegenerative disorder caused by the expansion of an unstable trinucleotide (CAG) repeat sequence in a novel gene (MJD1) on chromosome 14. Previous studies showed that age at onset is negatively correlated with the number of CAG repeat units, but only part of the variation in onset age is explained by CAG repeat length. Ages at onset and CAG repeat lengths of 136 MJD patients from 23 kindreds of Portuguese descent were analyzed, to determine whether familial factors independent of CAG repeat length modulate age at onset of MJD. Correlation among sibs for onset age adjusted for CAG repeat length was .43, which indicates that an environmental or genetic factor common to sibs influences onset age. Positive correlations were also observed for avuncular (r = .22) and first-cousin pairs (r = .28), which supports the hypothesis that a genetic factor is influencing age at onset. Commingling analysis of onset ages adjusted for CAG repeat length identified three distributions in this population of affected individuals. Further studies of a much larger sample are needed to determine whether these distributions represent the influence of a genetic or environmental factor. 相似文献
122.
The chromosomal delta sequences of the yeast Saccharomyces cerevisiae were employed as recombination sites to integrate the bacterial neo(r) gene and the yeast SUC2 gene into the yeast genome. A dominate selection method employing the aminoglycoside antibiotic G418 was used. Transformation efficiencies and growth behaviors of the transformants were studied. Transformants were obtained with more than 40 integrations; the majority of insertions were tandem with a maximum of three different insertion sites utilized at one time. After 70-100 generations of growth in nonselective medium, the high copy number SUC2-neo(r) integrants were found to be unstable; only minor instability was observed for the neo(r) and low copy number SUC2-neo(r) integrants. (c) 1996 John Wiley & Sons, Inc. 相似文献
123.
The paper describes the local, national, European and wider-area framework, statutes, and formal and voluntary mechanisms for managing European estuaries. These aspects are discussed in relation to two large and representative estuarine systems, the Tagus, Portugal, and the Humber, on the English North Sea coast As estuaries are sites of many activities and uses, most of which are encouraged or at least condoned, management has the role of preventing and resolving conflicts between those uses and users. Accepted uses of estuaries include the discharge and dumping of waste materials, fin and shell-fisheries, conservation, land reclamation, natural usage, abstraction by industry, and recreation. Estuarine management is now being carried out within the constraints of local and regional government planning, planning and activities of water pollution control bodies, fisheries control bodies, and navigation and port authorities The Tagus and Humber estuaries support all of the above activities and uses, and have controls within a European legislative framework but have differing histories of management and planning in order to resolve conflicts. In addition the Humber is subject to controls placed on North Sea areas. The paper discusses the relevant national and European legislation (Directives) and accepted practices for management. Furthermore, the paper discusses the formulation and practice of estuarine management plans as used by various bodies (nature conservation, water quality and regional authority). It is of particular note that the lessons from these two estuaries are relevant to many other European estuaries. 相似文献
124.
G. Guillen M. J. Leal A. Alvarez M. Delgado R. Silva L. Herrera 《Engineering in Life Science》1995,15(1):97-106
The 5C outer membrane protein, one of the N. meningitidis class 5 proteins, was preferably expressed in bacteria isolated from the nasopharynx and its role in adhering to the mucosal cells and invading them as well as the development of anti-5C antibodies in healthy carriers was demonstrated. Anti-5C monoclonal antibodies are bactericidal in the presence of the human complement. The immunodominant region of the 5C protein is highly conserved among the different strains of N. meningitidis, and the opc gene, which encodes the protein, does not seem to show antigenic variations. Here the isolation of the opc gene from the Cuban strain B:4:P1.15 by PCR (Polymerase Chain Reaction) is presented. Under the regulation of the tryptophan promoter, the gene was cloned and sequenced in E. coli with a high level of expression and fused to the amino-terminal end of the interleukin-2 gene. In the dot-blot experiments, the presence of the gene in those strains which did not express the protein in the whole cell ELISA was also detectable. 相似文献
125.
Akira Akabayashi C.T.B.V. Zaia James I. Koenig Steven M. Gabriel Ivan Silva Sarah F. Leibowitz 《Peptides》1994,15(8):1437-1444
The peptide galanin (GAL), when injected into the rat hypothalamus, is known to stimulate feeding behavior and affect the secretion of various hormones, including insulin and the adrenal steroid, corticosterone. To determine whether endogenous peptide levels shift in relation to natural rhythms of feeding and circulating hormone levels, rats were sacrificed at different times of the light/dark cycle, and their GAL levels were measured, via radioimmunoassay, in medial hypothalamic dissections and micropunched hypothalamic areas. The results suggest the existence of two distinct diurnal rhythms for hypothalamic GAL. One rhythm, detected exclusively in the area of the SCN, is characterized by bimodal peaks of GAL, threefold higher than basal peptide levels, around the onset of the dark and light periods. The second rhythm shows a single peak of GAL towards the middle of the nocturnal feeding cycle, specifically between the third and sixth hour. This latter rhythm is evident in the dorsal region of the medial hypothalamus, localized specifically to the lateral portion of the PVN. Moreover, it is inversely related to circulating insulin but unrelated to the adrenal steroids, suggesting a possible association between this pancreatic hormone and GAL in the PVN. 相似文献
126.
127.
Theresa A. Grebe William K. Seltzer Jean DeMarchi Dinithi K. Silva W. W. Doane David Gozal S. F. Richter C. Michael Bowman R. A. Norman Susan N. Rhodes Lucy S. Hernried Shirley Murphy Ivan R. Harwood Frank J. Accurso Karen D. Jain 《American journal of human genetics》1994,54(3):443-446
We have performed molecular genetic analyses of Hispanic individuals with cystic fibrosis (CF) in the southwestern United States. Of 129 CF chromosomes analyzed, only 46% (59/129) carry ΔF508. The G542X mutation was found on 5% (7/129) of CF chromosomes. The 3849+10kbC→T mutation, detected primarily in Ashkenazi Jews, was present on 2% (3/129). R1162X and R334W, mutations identified in Spain and Italy, each occurred on 1.6% (2/129) of CF chromosomes. W1282X and R553X were each detected once. G551D and N1303K were not found. Overall, screening for 22 or more mutations resulted in detection of only 58% of CF transmembrane conductance regulator gene mutations among Hispanic individuals. Analysis of KM19/XV2c haplotypes revealed an unusual distribution. Although the majority of ΔF508 mutations are on chromosomes of B haplotypes, the other CF mutations are on A and C haplotypes at higher-than-expected frequencies. These genetic analyses demonstrate significant differences between Hispanic individuals with CF and those of the general North American population. Assessment of carrier/affected risk in Hispanic CF individuals cannot, therefore, be based on the mutation frequencies found through studies of the general population but must be adjusted to better reflect the genetic makeup of this ethnic group. Further studies are necessary to identify the causative mutation(s) in this population and to better delineate genotype/phenotype correlations. These will enable counselors to provide more accurate genetic counseling. 相似文献
128.
Michael Dean J. Claiborne Stephens Cheryl Winkler Deborah A. Lomb Mark Ramsburg Raleigh Boaze Claudia Stewart Lauren Charbonneau David Goldman Bernard J. Albaugh James J. Goedert R. Palmer Beasley Lu-Yu Hwang Susan Buchbinder Michael Weedon Patricia A. Johnson Mary Eichelberger Stephen J. O'Brien 《American journal of human genetics》1994,55(4):788-808
A panel of 257 RFLP loci was selected on the basis of high heterozygosity in Caucasian DNA surveys and equivalent spacing throughout the human genome. Probes from each locus were used in a Southern blot survey of allele frequency distribution for four human ethnic groups: Caucasian, African American, Asian (Chinese), and American Indian (Cheyenne). Nearly all RFLP loci were polymorphic in each group, albeit with a broad range of differing allele frequencies (δ). The distribution of frequency differences (δ values) was used for three purposes: (1) to provide estimates for genetic distance (differentiation) among these ethnic groups, (2) to revisit with a large data set the proportion of human genetic variation attributable to differentiation within ethnic groups, and (3) to identify loci with high δ values between recently admixed populations of use in mapping by admixture linkage disequilibrium (MALD). Although most markers display significant allele frequency differences between ethnic groups, the overall genetic distances between ethnic groups were small (.066–.098), and <10% of the measured overall molecular genetic diversity in these human samples can be attributed to “racial” differentiation. The median δ values for pairwise comparisons between groups fell between .15 and .20, permitting identification of highly informative RFLP loci for MALD disease association studies. 相似文献
129.
Subunit c of the F1F0-ATPase from Propionigenium modestum was extracted from the particulate cell fraction with chloroform/methanol. The protein was further purified by carboxymethyl cellulose chromatography and anion exchange HPLC in the organic solvent. SDS-PAGE of the purified protein indicated a single stained protein band migrating as expected for the c-subunit. Incubation of isolated subunit c in chlorform/methanol or aqueous buffer containing dodecyl-β-
-maltoside with [14C]dicyclohexylcarbodiimide (DCCD) resulted in the incorporation of radioactivity into the protein. The rate of this reaction depended on the external pH; it was significantly faster in the more acidic than in the alkaline pH range. In the presence of Na+ subunit c was partially protected from labeling with [14C]DCCD at pH 6.1 and at pH 7.5, whereas no protection was evident at pH 5.5. At pH 7.5, the rate of subunit c labeling by [14C]DCCD in the presence of 20 mM NaCl was about 50% lower than in the absence of Na+ ions. The isolated c-subunit therefore apparently retains in part the Na+ binding site which, when occupied, diminishes the reactivity of the protein towards DCCD. 相似文献
130.
dos Santos Silva Edinaldo N. Kakkassery Francy K. Maas Sibylle Dumont Henri J. 《Hydrobiologia》1994,288(2):119-128
Calanoid copepods, belonging to the new genus and species Keraladiaptomus rangareddyi, were collected from temporary ponds in Kerala State, India. The new genus belongs to the family Diaptomidae, subfamily Diaptominae. It is described in detail and its affinity to the related genera, Arctodiaptomus Kiefer, 1932 and Eodiaptomus Kiefer, 1932, discussed. 相似文献