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1.
J. Reiss U. Ellermeyer M. Schloesser W. Fuhrmann D. Drews H. G. Posselt 《Human genetics》1993,91(1):78-79
Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D. Both patients exhibit a relatively benign clinical course. In the described patients, G542X functions as a mild allele and is, in this respect, dominant to the severe G551D. 相似文献
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Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. 总被引:3,自引:0,他引:3 下载免费PDF全文
S J Delaney E W Alton S N Smith D P Lunn R Farley P K Lovelock S A Thomson D A Hume D Lamb D J Porteous J R Dorin B J Wainwright 《The EMBO journal》1996,15(5):955-963
We have generated a mouse carrying the human G551D mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR) by a one-step gene targeting procedure. These mutant mice show cystic fibrosis pathology but have a reduced risk of fatal intestinal blockage compared with 'null' mutants, in keeping with the reduced incidence of meconium ileus in G551D patients. The G551D mutant mice show greatly reduced CFTR-related chloride transport, displaying activity intermediate between that of cftr(mlUNC) replacement ('null') and cftr(mlHGU) insertional (residual activity) mutants and equivalent to approximately 4% of wild-type CFTR activity. The long-term survival of these animals should provide an excellent model with which to study cystic fibrosis, and they illustrate the value of mouse models carrying relevant mutations for examining genotype-phenotype correlations. 相似文献
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Katherine Wood Klinger 《Human genetics》1983,65(2):94-98
A high incidence of cystic fibrosis (CF), 1/569 live births (0.00176), was found among 10 816 live births in an Ohio Amish isolate. The minimum gene frequency calculated from this incidence was 0.042. In marked contrast, a second Amish isolate was described with no occurrence of CF among 4448 live births. Founder effect is the most probable explanation for the difference in the CF gene frequency between the two communities. Pedigree analysis identified a single ancestral couple born in the 1700s common to all obligate heterozygotes. 相似文献
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Cystic fibrosis: low frequency of DF508 mutation in 2 population samples from Rio de Janeiro, Brazil
Cabello GM Moreira AF Horovitz D Correia P Santa Rosa A Llerena J Greg J Grody WW Degrave WM Fernandes O Cabello PH 《Human biology; an international record of research》1999,71(2):189-196
Blood samples from 44 unrelated cystic fibrosis (CF) patients from Rio de Janeiro, Brazil, were analyzed for the 8 European CF mutations. Six homozygous and 15 heterozygous carriers of the DF508 mutation were found, corresponding to 47.7% of CF patients (allele frequency 0.3068). The G542X and G551D mutations were also observed with allele frequencies of 0.0227 and 0.0114, respectively. An analysis of the DF508 mutation in 291 randomly chosen, healthy individuals was performed, and only 3 heterozygous carriers were identified. These results show that the frequency of the DF508 allele in Rio de Janeiro is much lower than the world average; this may be due to the extremely heterogeneous ethnic admixture of the study population. By combining the results of these 2 different samples (CF patients and random population) and admixture data from Rio de Janeiro, we can estimate the CF incidence in this population to be 1:3542 individuals. However, taking into account the Rio de Janeiro ethnic admixture, we can find an estimate of 1:6902 individuals. 相似文献
6.
Juha Kere Erkki Savilahti Reijo Norio Xavier Estivill Albert de la Chapelle 《Human genetics》1990,85(4):413-415
Summary The frequency of mutation ΔF508 was determined in all 20 Finnish cystic fibrosis (CF) families with living affected children
(19 with pancreatic insufficiency). ΔF508 was detected in 18 out of 40 CF chromosomes (45%). At least two different mutations
associated with pancreatic insufficiently have occurred in a rare haplotype defined by XV2c, CS.7, KM19 alleles 1 2 2. Geographical
clustering of ΔF508 and other mutations suggested that a founder effect and genetic drift have influenced the frequency of
mutations causing CF in Finland. 相似文献
7.
Zooplankton annual cycle in a Mediterranean coastal area 总被引:13,自引:0,他引:13
The annual cycle of the zooplankton community in the SaronikosGulf (Aegean Sea, Greece) was studied over a period of 2 years.The sampling scheme included monthly hauls at three stationsdifferentiated according to depth and neritic character. Maximumvalues of total zooplankton abundance were found in summer monthsup to early autumn and partially in spring. Copepods dominatedduring most of the year (Clausocalanus furcatus, Paracalanusparvus, Temora stylifera, Ctenocalanus vanus, Oithona similis,Oithona plumifera), while cladocerans (Penilia avirostris) wereabundant in summer months and in September. No important fluctuationswere detected between the 2 years of study, while monthly oneswere more significant in the more neritic station during thewinterspring period. Correspondence analysis showed thatthe seasonal evolution of zooplankton is related to environmentalparameters: temperature, hydrography expressed in open sea influenceand topography. 相似文献
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Karnajit Kumar Bepari Arup Kumar Malakar Prosenjit Paul Binata Halder Supriyo Chakraborty 《Bioinformation》2015,11(7):348-352
Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance
regulator gene. This gene encodes a protein involved in epithelial anion channel. Cystic fibrosis is the most common life-limiting
genetic disorder in Caucasians; it also affects other ethnic groups like the Blacks and the Native Americans. Cystic fibrosis is
considered to be rare among individuals from the Indian subcontinent. We analyzed a total of 29 world׳s populations for cystic
fibrosis on the basis of gene frequency and heterozygosity. Among 29 countries Switzerland revealed the highest gene frequency
and heterozygosity for CF (0.022, 0.043) whereas Japan recorded the lowest values (0.002, 0.004) followed by India (0.004, 0.008).
Our analysis suggests that the prevalence of cystic fibrosis is very low in India. 相似文献
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B H Bowman B J Lankford G M Fuller S D Carson A Kurosky D R Barnett 《Biochemical and biophysical research communications》1975,64(4):1310-1315
A small polypeptide within the molecular weight range of 6,000 to 11,000 was found in immunoglobulin fractions from sera of cystic fibrosis homozygotes and heterozygotes. This factor appears to be responsible for interfering with ciliary activity in oyster gills. Since it can be dissociated from IgG without reductive cleavage it must be bound in a non-covalent manner. After its dissociation the IgG fractions from cystic fibrosis sera no longer inhibited ciliary activity. This finding explains the differences previously observed in the molecular weights of the ciliary inhibitor synthesized by cultured cells and that of sera from cystic fibrosis genotypes. 相似文献
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Cystic fibrosis haplotype association and the ΔF508 mutation in adult British CF patients 总被引:1,自引:0,他引:1
George Santis Lucy Osborne Richard Knight Michelle Ramsay Robert Williamson Margaret Hodson 《Human genetics》1990,85(4):424-425
Summary The ΔF508 mutation and cystic fibrosis (CF) haplotypes with the markers KM19, pMP6d-9 and J3.11 are described in 54 adult
British CF patients. ΔF508 was found on 70% of all CF chromosomes, on none of the normal chromosomes and on only 37.5% of
pancreatic sufficient CF chromosomes. All patients with meconium ileus were homozygous for the deletion. 相似文献
12.
Bode Antonio; lvarez-Ossorio M.Teresa; Gonzlez Nicols 《Journal of plankton research》1998,20(5):1005-1014
The abundance and several estimators of mesozooplankton biomass(dry weight, ash-free dry weight, displacement volume, carbonand nitrogen) were measured in a coastal upwelling area offLa Coru*****na (NW Spain) at monthly intervals between 1990and 1995. Holoplanktonic copepods dominated in most of the samples,but meroplanktonwere also important near the coast, especiallyduring late spring and through summer. Gelatinous organisms(medusae, siphonophores and larvaceans) reached significantabundances (-10%) in shelf waters by late summer, but also nearthe coast in spring. Log-linear equations were computed betweendry weight, displacement volumeand the other biomass estimators,to allow for interconversion among different measurements. Toprevent the influence of meroplankton and gelatinous zooplanktonin the estimations of biomass, the equations were adjusted usingonly samples in which the abundance of each of these groupswas <10% of total individuals. Our equations produced carbonand ash-free dry weight estimates that are comparable to thoseobtained with the ratiosgiven in other studies in the region.However, the esti mations of mesozooplankton carbon from displacementvolume using the adjusted equation with our data are lower thanthose reported previously for the area, which werecomputed usingequations adjusted with data from a different ecosystem. Theuse of interconversion factors taken from the literature isdiscussed, along with the implications of the estimations ofmesozooplankton biomass in the computations of the flux of carbonthrough the ecosystem. 相似文献
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Cystic fibrosis: a defect in stimulus-response coupling 总被引:1,自引:0,他引:1
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Cystic fibrosis: a disease in electrolyte transport 总被引:47,自引:0,他引:47
P M Quinton 《FASEB journal》1990,4(10):2709-2717
Cystic fibrosis (CF) is a fatal genetic disease caused by abnormalities in fluid and electrolyte transport in exocrine epithelia. Both absorptive and secretory processes are affected by an underlying membrane defect in Cl- permeability. However, the impact of the defect on transport function is tissue specific. Net electrolyte absorption is decreased in the sweat duct, increased in airway epithelia, and not affected in intestine. The defect is expressed in secretion as a consistent failure in most, if not all, exocrine tissues, to beta-adrenergically stimulated and cAMP mediated secretory response. However, the secretory response to cholinergic and Ca2(+)-mediated stimulation is normal in the sweat gland, apparently normal in the airway, but absent in the intestine. The basic defect is not fatal in and of itself, and the imbalance between absorption and secretory functions may be of some selective advantage to heterozygotes in surviving complications of intestinal infections. The inherent defect in transport is probably the primary physiological cause of the ultimately fatal secondary infections in the lungs of CF homozygotes. 相似文献
16.
A. J. Nolan 《CMAJ》1976,114(2):142-145
The clinical spectrum of cystic fibrosis is insufficiently appreciated. This disease may occur in adolescents or adults who had minimal or no symptoms in childhood. In three patients the diagnosis was made on the basis of respiratory disease (including bronchiectasis, pneumonia and chronic bronchitis), a family history of respiratory disease, and elevated concentrations of electrolytes in the sweat. Two of the patients had pancreatic insufficiency, but this feature was not considered necessary for the diagnosis. It is important to make the diagnosis of cystic fibrosis in affected adults in order to prescribe appropriate therapy, avoid unnecessary operations, anticipate complications that are not common to other respiratory diseases, provide genetic counselling and initiate appropriate screening procedures to detect the disease in close relatives. 相似文献
17.
Jaran Apold Hans G. Eiken Elisabeth Svensson Erich Kunert Libor Kozak Petr Cechak Flemming Güttler Jacques Giltay Uta Lichter-Konecki Dominique Melle Jadwiga Maria Jaruzelska 《Human genetics》1993,92(2):107-109
We have compiled data on the frequencies of the phenylketonuria G272X mutation in European populations. This mutation occurs north of the Alps. It has a particularly high frequency in the Oslo Fjord region of Norway with the adjacent Bohuslän region of Sweden. An intermediate frequency was noted in a separate area, the eastern part of Germany with the adjacent western part of Czechoslovakia. The G272X mutation was associated with phenylalanine hydroxylase haplotype 7, except for one case with haplotype 3. Genealogical studies going back eight to nine generations revealed no common source for this mutation, but there was some geographical convergence to the Bohuslän region. These findings suggest a single origin for this mutation, with at least one founding population in south-eastern Norway/adjacent Sweden. 相似文献
18.
Fabio Orlandi Herminia Garcia-Mozo Carmen Galán Bruno Romano Consuelo Diaz de la Guardia Luis Ruiz Maria del Mar Trigo Eugenio Dominguez-Vilches Marco Fornaciari 《International journal of biometeorology》2010,54(2):151-163
The aim of this study was to investigate the main climatic and biological trends related to olive flowering in central-southern
Italy compared to those in Andalusia, Spain. Results since 1982 were compared for the two long-series monitoring areas of
Cordoba and Perugia, and since 1992–1999 for the short-series areas. The relationship between climatic trends and the biological
response of the olive, a widespread culture in the Mediterranean basin, were investigated. An aerobiological method involving
capturing pollen released into the atmosphere was utilised as a bioindicator of flowering phenology. The study results confirm
the strong relationship between flowering periods and spring temperature trends for the olive. Temperature during March, April
and May was the parameter most related to flowering date in the study areas, particularly in Italy. In some cases we found
a significant correlation between flowering and past autumn temperatures, probably due to their effect on floral bud dormancy
induction, but this phenomenon appeared to be of minor importance in the studied areas. The phenological trend results show
the continuous advance of flowering dates to the late 1990s, followed by a relatively stationary time series related to a
short-term temperature fluctuation in the Mediterranean area. This latter period probably represents a mesoscale event forced
by a macroscale event—the North Atlantic Oscillation. The results reveal that the trend towards increased temperatures, and
the consequent flowering advance of some species, indicated some years ago is nowadays not as clear as was expected and should
be confirmed over the next few years in the Mediterranean areas under investigation. 相似文献
19.
D Hillaire J C Chomel F Lesure M Renouil C Musenger F Pierson M Berthelon G Lenoir G Gérard E Bois 《Annales de génétique》1991,34(1):5-7
The frequencies of the delta F 508 mutation and haplotypes linked to the cystic fibrosis (CF) gene and detected with DNA probes XV-2C and KM-19 have been studied in the population of Reunion Island, a French province located in the Indian Ocean. The deletion was present in 41.3% of CF chromosomes, whereas this proportion is about 70% in the French population. The delta F 508 mutation was associated with the haplotype B defined by the DNA markers XV-2C (allele 1) and KM-19 (allele 2) in 76.4% of CF chromosomes, while this proportion is over 90% in the French population. Founder effect, genetic drift and admixture can explain these differences. 相似文献
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It has previously been reported that 19% of the daughters of males carrying the X-linked mutation patchy fur (Paf) are XO with a maternally derived X chromosome. We now report that hemizygous Paf males that also carry the variant Y chromosome Y*, show a much increased XO production ( approximately 40% of daughters). We hypothesize that the Paf mutation is associated with an inversion spanning the pseudoautosomal region (PAR) boundary, and that this leads to preferential crossing over between the resulting inverted region of PAR and an equivalent inverted PAR region within the compound Y* PAR. This would lead to the production of dicentric X and acentric Y products and consequent sex chromosome loss. This interpretation is supported by analysis of the sex chromosome complements at the second meiotic metaphase, which revealed a high incidence of dicentrics. Another curious feature of the Paf mutation is that mice that are homozygous Paf have more hair than mice that are hemizygous Paf. This can be explained if the Paf mutation is a hypomorphic mutation that escapes X inactivation because, unlike the wild type allele, it is now located within the PAR. 相似文献