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61.
Fetal cells in maternal blood: recovery by charge flow separation 总被引:11,自引:0,他引:11
S. S. Wachtel David Sammons Michael Manley Gwendolyn Wachtel Garland Twitty Joseph Utermohlen Owen P. Phillips Lee P. Shulman Douglas J. Taron U. R. Müller Peter Koeppen Teresa M. Ruffalo Karen Addis Richard Porreco Joyce Murata-Collins Natalie B. Parker Loris McGavran 《Human genetics》1996,98(2):162-166
Fetal blood cells can be recovered from the maternal circulation by charge flow separation (CFS), a method that obviates the
risks associated with amniocentesis and chorionic villus sampling. By CFS, we processed blood samples from 13 women carrying
male fetuses, 2 carrying fetuses with trisomy 21, and 1 who had delivered a stillborn infant with trisomy 18. On average more
than 2000 fetal nucleated red blood cells were recovered per 20-ml sample of maternal blood. Recovery of fetal cells was confirmed
by fluorescence in situ hybridization with probes for chromosomes Y, 18 and 21. After culturing of CFS-processed cells, amplification
by the polymerase chain reaction revealed Y-chromosomal DNA in clones from four of six women bearing male fetuses, but not
in clones from three women bearing female fetuses.
Received: 8 January 1996 / Revised: 22 March 1996 相似文献
62.
Shuji Nakamura David W. Stock Karen L. Wydner Jacques A. Bollekens Kenichi Takeshita Brian M. Nagai Shigeru Chiba Toshio Kitamura Thomas M. Freeland Zhiyong Zhao Jun Minowada Jeanne B. Lawrence Kenneth M. Weiss Frank H. Ruddle 《Genomics》1996,38(3):314
We have cloned a new Dlx gene (Dlx7) from human and mouse that may represent the mammalian orthologue of the newt geneNvHBox-5.The homeodomains of these genes are highly similar to all other vertebrate Dlx genes, and regions of similarity also exist between mammalian Dlx7 and a subset of vertebrate Dlx genes downstream of the homeodomain. The sequence divergence between human and mouse Dlx7 in these regions is greater than that predicted from comparisons of other vertebrate Dlx genes, however, and there is little sequence similarity upstream of the homeodomain both between these two genes and with other Dlx genes. We present evidence for alternative splicing of mouseDlx7upstream of the homeodomain that may account for some of this divergence. We have mapped humanDLX7distal to the 5′ end of the HOXB cluster at an estimated distance of between 1 and 2 Mb by FISH. Both the human and the mouse Dlx7 are shown to be closely linked to Dlx3 in a convergently transcribed orientation. These mapping results support the possibility that vertebrate distal-less genes have been duplicated in concert with the Hox clusters. 相似文献
63.
Karen L. Wydner John A. McNeil Feng Lin Howard J. Worman Jeanne B. Lawrence 《Genomics》1996,32(3):474
We have used fluorescencein situhybridization to establish precise chromosomal localizations for three human genes encoding four different nuclear envelope proteins. Lamin A/C (LMN1, HGMW-approved symbol LMNA) mapped to 1q21.2–q21.3, with a most probable gene assignment to 1q21.3; lamin B receptor (LBR) was localized to 1q42.1; and lamin B1 (LMNB1) was mapped to the interface of bands 5q23.3–q31.1. Assignments were determined by direct placement of signals relative to high-resolution DAPI or G-bands. Comparison of these results of band positions predicted from fractional length measurements to signal placement indicated that more accurate predictions are made using Francke idiograms and that measurement strategy avoids variance due to polymorphic chromosome segments. 相似文献
64.
Santos Carlos Chandler Karen Zimmer Stephen Fisher Paul B. Gunthert Ursula Anderson Kimberly Ward 《Cell biochemistry and biophysics》1995,26(1):1-19
A parallel-plate flow chamber was used to quantify the detachment of normal cloned rat embryo fibroblasts (CREF) fibroblasts,ras-transformed CREF fibroblasts (CREF T24), and CREF T24 fibroblasts transfected with a Krev/RAP1A suppressor gene (HK B1) from
a confluent monolayer of normal CREF fibroblasts to determine if the expression patterns of CD44 variants (mol wt 110 and
140 kDa) corresponded with detachment properties and metastatic potential. In the detachment assay, known shear stresses ranging
from 20–24 dyn/cm2 were applied to the adherent cells and the number of cells detached from the monolayer after 180 s was determined. Results
showed that cellular expression of CD44 variants correlated with the metastatic potential of the cells and with the cells’
ability to detach from a monolayer of normal cells. Western blot analysis showed a low level of expression of the CD44 variants
in the normal cell line, CREF, and the lowly metastatic cell line, HK B1. Detachment studies showed a low percentage of detachment
of both of these cell lines from a normal cell monolayer. Tumor-derived (HK B1-T) and lung nodule-derived (HK B1-M) cell lines
were established and both formed tumors and metastasis with reduced latency periods as compared to HK B1, but still showed
a markedly delayed latency period compared to the highly metastatic cell line, CREF T24. Both of these cell lines showed a
higher expression of the CD44 variants as compared to CREF and HK B1, and detached easier than CREF and HK B1. CREF T24 showed
a much higher level of expression of the variants and had a higher percentage detachment than all other cell lines. To further
test the role of the CD44 variants in the ability of the cells to detach from the normal monolayer, CREF cells were transfected
with a DNA construct that constitutively expresses the CD44 variants and the detachment properties of three randomly selected
clones were studied. Clones 2 and 3 showed a low level of expression of the CD44 variants after transfection and detached
from the normal monolayer similar to CREF. Clone 1 showed a high level of expression of the CD44 variants and the detachment
of these cells was significantly higher than CREF. From these results, it is concluded that in the five cell lines studied,
expression of the CD44 variants play a significant role in the ability of the cells to detach from a monolayer of normal cells.
It is hypothesized that this detachment may be an important component of a cell’s ability to metastasize. 相似文献
65.
The June 1991 eruption of Mt. Pinatubo in the Philippines produced one of the greatest volcanic aerosols in the last hundred years. The estimated net decrease of radiation may have peaked at 10% in the tropics. What was the impact of the Pinatubo aerosol on regional and global climate? Besides the expected net cooling of the average global surface temperature, correlation studies indicate that other types of climate anomalies may also be expected. These include the appearance of an El Niño event, decreased Indian monsoon rainfall, fewer tropical storms in the north Atlantic Ocean in 1991–1993, and normal to above normal winter rainfall in California in 1991/92, all of which were observed. A proposed physical mechanism for the almost-simultaneous occurrence of this constellation of climate anomalies is presented. The results of correlation studies between low-latitude volcanic aerosols and the El Niño/Southern Oscillation are presented in some detail as one example. The correlation between Indian monsoon rainfall and tropical storms in the north Atlantic Ocean is also shown and is updated for the most recent 5 years. 相似文献
66.
Iturin A: A potential new fungicide for stored grains 总被引:6,自引:0,他引:6
The removal of many synthetic fungicides from the market has created a demand for new, environmentally safe fungicides. Iturin A, a cyclic lipopeptide produced byBacillus subtilis, has strong antifungal properties and low mammalian toxicity. To determine the efficacy of this compound as a potential fungicide on stored feed grains, lots of corn, peanuts and cottonseed were treated with varying concentrations of iturin A. The mycoflora of treated seed was assayed along with that of untreated seed and seed treated with fungicides used commercially for planting seed. Fungal species varied considerably in their sensitivity to iturin A. Significant reductions in total mycoflora occurred in most seed lots tested at iturin A concentrations of 50 to 100 ppm. 相似文献
67.
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
68.
Fine mapping of the Autosomal Dominant Split Hand/Split Foot Locus on Chromosome 7, Band q21.3-q22.1 总被引:6,自引:3,他引:3 下载免费PDF全文
Stephen W. Scherer Parvoneh Poorkaj Todd Allen Julia Kim Dorrit Geshuri Mark Nunes Sylvia Soder Karen Stephens Roberta A. Pagon Michael A. Patton Mary Anne Berg Tim Donlon Horacio Rivera R. A. Pfeiffer Kenji Naritomi Helen Hughes Maurizio Genuardi Fiorella Gurrieri Giovanni Neri Everett Lovrein Ellen Magenis Lap-Chee Tsui James P. Evans 《American journal of human genetics》1994,55(1):12-20
Split hand/split foot (SHFD) is a human developmental defect characterized by missing digits, fusion of remaining digits, and a deep median cleft in the hands and feet. Cytogenetic studies of deletions and translocations associated with this disorder have indicated that an autosomal dominant split hand/split foot locus (gene SHFD1) maps to 7q21-q22. To characterize the SHFD1 locus, somatic cell hybrid lines were constructed from cytogenetically abnormal individuals with SHFD. Molecular analysis resulted in the localization of 93 DNA markers to one of 10 intervals surrounding the SHFD1 locus. The translocation breakpoints in four SHFD patients were encompassed by the smallest region of overlap among the SHFD-associated deletions. The order of DNA markers in the SHFD1 critical region has been defined as PON–D7S812–SHFD1–D7S811–ASNS. One DNA marker, D7S811, detected altered restriction enzyme fragments in three patients with translocations when examined by pulsed-field gel electro-phoresis (PFGE). These data map SHFD1, a gene that is crucial for human limb differentiation, to a small interval in the q21.3-q22.1 region of human chromosome 7. 相似文献
69.
70.
Protein Kinase C Activation Attenuates N-Methyl-d-Aspartate-Induced Increases in Intracellular Calcium in Cerebellar Granule Cells 总被引:1,自引:0,他引:1
Lawrence D. Snell Karen R. lorio Boris Tabakoff Paula L. Hoffman 《Journal of neurochemistry》1994,62(5):1783-1789
Abstract: Activation of the N-methyl-d -aspartate (NMDA) subtype of glutamate receptor increases levels of intracellular calcium and can lead to stimulation of protein kinase C activity. Several reports have demonstrated that stimulation of protein kinase C can, in turn, increase electrophysiological responses to NMDA in certain cells or in oocytes expressing certain NMDA receptor subunits. In the present study, the effects of protein kinase C activation on NMDA receptor-mediated increases in intracellular Ca2+ levels were investigated in primary cultures of rat cerebellar granule cells using fura-2 fluorescence spectroscopy. Pretreatment of the cells with the protein kinase C activator phorbol 12-myristate 13-acetate (PMA), but not the inactive analogue 4α-phorbol 12-myristate 13-acetate, inhibited NMDA-induced increases in intracellular Ca2+ levels. Coincubation of cells with PMA and the kinase inhibitor staurosporine or calphostin C blocked the PMA effect. The potency of NMDA was reduced twofold, and the potency of the NMDA receptor coagonist, glycine, to enhance the response to NMDA was decreased fourfold by pretreatment of cells with PMA. The effect on glycine was mimicked by pretreatment with okadaic acid, a protein phosphatase inhibitor. PMA treatment did not significantly alter Mg2+ inhibition of the NMDA response but decreased the potency of the competitive antagonist CGS-19755. These data suggest that, in cerebellar granule cells, the function of the NMDA receptor may be subject to feedback inhibition by protein kinase C stimulation. Under physiological conditions, this inhibition may result from a decreased effectiveness of the endogenous coagonists, glutamate and glycine. 相似文献