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1.
Summary Two double heterozygous 0/0 thalassemic sibs of Mexican descent were studied. The father had a 0/0 genotype, while the mother, one sib and several maternal relatives were 0/0 heterozygotes. Parental consanguinity and an apparently low frequency of thalassemia among Mexicans suggested a possible common origin of both 0 and 0 genes. A hypothesis to explain such a possibility is proposed on the basis of a partial mispairing between 0 and genes followed by a crossing-over which would results in a 0 recombinant gene. This hypothesis could also be extended to explain the 22 gluala, 22 alaglu and 116 arghis Hb variants as recombinants from double crossing-over between and mispaired genes for which the name interstitial-Lepore is proposed. 相似文献
2.
Different ζ globin gene deletions among Black Americans 总被引:7,自引:0,他引:7
A. E. Felice M. P. Cleek E. M. Marino K. M. McKie V. C. McKie B. K. Chang T. H. J. Huisman 《Human genetics》1986,73(3):221-224
Summary Four types of chromosomes with a deletion between the human embryonic and globin genes were identified among 2.8% of 321 Black Americans from Georgia. Two deletions of approximately 11 kb which differed by about 300 bp occurred on chromosomes with or without a polymorphic Xba I site 5 to the globin gene [(X+) or (X-)]. The deletions are identifiable in Xba I digests of genomic DNA using an or a globin gene probe which yield fragments of 23 kb from (X+)–* chromosomes or 27 kb from (X–)–* chromosomes. Digestion with other enzymes and probing with both and probes gave fragments typical of the two globin gene deletions previously identified in Polynesians. Among Black Americans, these globin gene deletions have been found in combination with globin gene deletions in trans but not in cis. Homozygotes have not been found. Hematologic data on carriers of the globin gene deletions in association with Hb AS, SS, and SC suggest that these deletions have no effect on the function of the adult globin genes. 相似文献
3.
Judit Kramer Tamás Fülöp Katalin Rajczy Nguyen Ahn Tuan George Füst 《Human genetics》1991,86(6):595-598
Summary The incidence of allotypes of the genes of the fourth component (C4) and factor B of the complement system was compared in 252 persons under 45 years of fage (young group) with 482 people between 61 and 90 years of age (old group). One hundred people older than 90 years of age (nonagenarians) were also investigated. A striking difference was found between the young and old groups in the incidence (16.1% and 5.4%, respectively) of a silent gene of the C4B allele (C4BQ0). This difference was even more marked among young and old men (17.6% vs 3.4%). The incidence of the C4BQ0 allele in women dropped to the level of the men only in the nonagenarian group. The most probable explanation for this finding is that people carrying the C4BQO allele die from as yet unidentified disease(s) in their middle-age. Therefore, male (and to a lesser extent female) carriers of this allele may have a considerably shorter life expectancy than individuals without a silent gene in the C4B locus. 相似文献
4.
John Greenman Nancy Hogg Suzanne Nikoletti Christopher Slade George Stevenson Martin Glennie 《Cancer immunology, immunotherapy : CII》1992,34(6):361-369
Summary The three forms of Fc receptor carried by monocytes (FcRI, II) and natural killer (NK) cells (FcRIII) are all capable of mediating cell lysis. Here we compare the use of F(ab)2 bispecific antibodies, specifically targetting individual FcR, and chimeric IgG mouse/human antibodies which are capable of targetting all FcR, for their ability to mediate target cell destruction. The derivatives are prepared by linking hinge sulphydryl residues via tandem thioether bonds, using a bismaleimide crosslinker: Fab from an anti-FcR mAb linked to Fab from a common anti-target mAb (BsAb), or Fab from the common anti-target mouse antibody linked to human Fc (FabFc or bisFabFc). All the derivatives targetting chick red blood cells gave efficient lysis, although different effector cell donors yielded differences in both the lytic levels achieved and the comparative efficiencies of derivatives. In contrast, significant lysis of the guinea pig lymphoblastic leukaemia, L2C, regularly resulted only via the anti-FcRIII BsAb and the chimeric derivatives. These results suggest that the chimeric, Fc-containing derivatives mediate tumour cell lysis principally through FcRIII on NK cells. This is in contrast to the situation with the chick red blood cells where the chimeric derivatives appear capable of lysing erythrocytes by utilizing either monocytes or NK cells, because significant (50%) lysis occurred with effector cell populations magnetically depleted through either FcRII or FcRIII. A major difference between these two types of antibody derivative was their ability to function in the presence of high concentrations of normal human Fc. The lysis mediated by BsAb reactive with FcRI or II was unaffected by the presence of human Fc at 2.5 mg/ml (a concentration comparable with that yielded by IgG in plasma) whereas the BsAb recognizing FcRIII and all the Fc-containing derivatives were completely inhibited.This work has been supported by Tenovus, the Cancer Research Campaign, the Leukaemia Research Fund, Italfarmaco, Milano, Italy and the Imperial Cancer Research Fund 相似文献
5.
A new -glucosidase was partially purified from Trichoderma viride cellulase. This -glucosidase catalyzed a transglycosylation reaction of cellobiose to give -D-Glc-(16)--D-Glc-(14)-D-Glc (1, yield: 18.8%) and -D-Glc-(16)--D-Glc-(16)--D-Glc-(14)-D-Glc (2, 3.7%), regioselectively. Furthermore, the enzyme regioselectively converted laminaribiose and gentiobiose into -D-Glc-(16)--D-Glc-(13)-D-Glc (3, 15.3%) and -D-Glc-(16)--D-Glc-(16)-D-Glc (4, 20.2%), respectively. The structures (1–4) of the products were determined by 1H and 13C NMR spectroscopies. This high regio- and stereoselectively of the -glucosidase could be applied for oligosaccharide synthesis. 相似文献
6.
Christopher M. Wade Kate F. Darling Dick Kroon Andrew J. Leigh Brown 《Journal of molecular evolution》1996,43(6):672-677
Phylogenetic analysis of five partial planktic foraminiferal small subunit (SSU) ribosomal (r) DNA sequences with representatives of a diverse range of eukaryote, archaebacterial, and eubacterial taxa has revealed that the evolutionary origin of the foraminiferal lineage precedes the rapid eukaryote diversification represented by the crown of the eukaryotic tree and probably represents one of the earliest splits among extant free-living aerobic eukaryotes. The foraminiferal rDNA sequences could be clearly separated from known symbionts, commensals, and food organisms. All five species formed a single monophyletic group distinguished from the crown group by unique foraminiferal specific insertions as well as considerable nucleotide distance in aligned regions. 相似文献
7.
R. W. Kaplan und Gerda Witt 《Molecular & general genetics : MGG》1965,97(3):209-217
Summary Stationary phase cells of strain phr–/MC 2 ofE. coli are not photoreactivable but the frequency of UV-induced mutations to low Streptomycine-resistance (S 3, 3/ml) is decreased strongly by illumination with light of fluorescence tubes (310 to 500 nm) after UV-irradiation. Also dark-reversion (DRM) of these mutations due to keeping UV-irradiated cells in saline is observed. Illumination before UV-irradiation decreases the frequency of the mutations (photoprotection against mutation=PPM) to the same extent as the combined action of photoreversion (PRM) and DRM. The lag-phase of cell division is prolonged strongly by illumination from 80 min without light to 150 min by the light-dose of highest activity. The additional lag is nearly the same if the illumination is done before, after or without UV-irradiation; this lag is about additive to the small lag caused by UV. Pre-illumination of the stationary-phase cells does not cause photoprotection against killing (PP), it even decreases the survival after high UV-doses. The observations support the hypothesis that PRM in this strain may be indirect, i.e. caused by the light-induced additional division lag which enhances the dark repair of UV-premutations. Also spontaneous premutations which are apparently present in the stationary-phase cells seem to be influenced by the light in this way. 相似文献
8.
Abdullah Kutlar Ferdane Kutlar Li-Ghao Gu Sylvia M. Mayson Titus H. J. Huisman 《Human genetics》1990,85(1):106-110
Summary A recently developed high performance liquid chromatographic (HPLC) procedure using a weak cation exchanger (PolyCAT) in columns of different sizes was used to quantify fetal hemoglobin (Hb F) in blood of normal adults and -thalassemia (-thal) heterozygotes with ten different types of mutations. Preparative PolyCATHPLC greatly facilitated the characterization of isolated Hb F, i.e., the determination of the relative quantities of the G and A chains. The method is accurate and allows quantitation of Hb F at the 0.5% level; preparative PolyCAT-HPLC allows isolation of (nearly) pure Hb F from blood samples with low (< 1%) Hb F. Adult Hb F levels were determined in 69 normal adults (including 24 diabetics); Hb F levels fell below 1% except for subjects with abnormal -G-G arrangement and a CT mutation at position -158 relative to the Cap site of both G genes. The effect of the same mutation in the normal-G-A-arrangement was variable. Certain -thal mutations (namely, those at positions -29;-88; IVS-I-1; IVS-II-1) were associated with high Hb F levels in heterozygotes, while those at nucleotide (nt) positions IVS-I-6; IVS-I-110; codon 24; codon 39; codons 41/42; IVS-II-745 were not. G values varied and often fell into two groups (high G and low G); high G values were not associated with high Hb F values. The chromatographic procedure is ideally suited for Hb A2 quantitation. Average values of Hb A2 in -thal heterozygotes with any one of nine of the ten mutations were twice that of normals; the one exception was the -thal heterozygote with the IVS-I-6 (TC) mutation with an average low Hb A2 value of 3.6%. 相似文献
9.
Summary Five different types of experiment are described which make it possible to measure various relaxation rates of selected protons in crowded spectra of macromolecules such as proteins: longitudinal spin-lattice relaxation rates =1/T1, transverse relaxation rates =1/T2 measured under conditions of free precession, transverse relaxation rates 1
LOCK=1/T1
measured under conditions of spin-locking, and transverse relaxation rates DQC=1/T2
DQC and ZQC=1/T2
ZQC of double- and zero-quantum coherences. The surprisingly large discrepancy between the transverse rates t and t is discussed in detail. To separate overlapping proton signals, the experimental schemes involve one or several magnetization transfer steps, using a doubly selective homonuclear Hartmann-Hahn method. Numerous variants of the basic ideas can be conceived, depending on the extent of signal overlap and on the topology of the networks of scalar couplings. Applications are shown to H and H of Tyr23, to H, H and H of Cys30, and to H and H of Ala24 in bovine pancreatic trypsin inhibitor (BPTI). 相似文献
10.
Pirelli A Allavena P Rambaldi A Di Bello M Pirovano P Peccatori F Mantovani A 《Cytotechnology》1987,1(1):79-81
The lineage to which normal large granular lymphocytes/natural killer (LGL/NK) cells belong is controversial; in fact they share some surface markers and functional activities with monocytes, but also with T lymphocytes. The relationship of LGL to the T cell lineage by analysis with the T cell receptor (T-rec) gene has been investigated. Pure preparations of human LGL and their CD11+ CD8- and CD11- CD8+ subsets had the T gene in its unrearranged germline configuration. Expression of T and T genes was not detectable. The organization of T gene, which is of particular importance because it occurs early in T cell ontogeny, was also found in its germline configuration.A rare type of lymphoproliferative disorder, termed T-LPD, is characterized by expansion of cells very similar to LGL for morphology, phenotype, and functional activity. Of 17 patients with T-LPD studied for T-rec rearrangement, 15 displayed rearrangement of T and T loci and were CD3+ (14/15 had monoclonal rearrangement), while 2 cases were in germline configuration and were CD3–. Similarly to very small subsets of CD3+ LGL recently described, most T-LPD cases are CD3+ and have T-rec genes rearranged. These data suggest that either a subset of LGL or a particular step of differentiation may be related to the T cell lineage; they also demonstrate that, in contrast to previous views, most TLPD are monoclonal, presumably neoplastic, lymphoproliferative disorders.Abbreviations LGL
large granular lymphocytes
- NK
natural killer
- T-rec
T-cell receptor
- TLPD
T lymphoproliferative disease 相似文献
11.
The twelve Cys and eight of the non-Cys residues are invariant in the glycoprotein hormone subunits from a variety of mammalian species. -Gin-54 of human lutropin (hLH) and choriogonadotropin (hCG) is one of these invariant amino acid residues. A single AG mutation in the LH gene of a patient presenting with hypogonadism resulted in the replacement of Gin-54 with Arg [1]. The authors also reported that an expressed mutant of hLH, with Arg replacing Gin-54, associated with the subunit, but there was no demonstrable binding of the mutant hormone to receptor. We have replaced Gin-54 in hCG with Glu and with Lys using site-directed mutagenesis. The expression plasmids pRSV-hCG (wild-type and mutants) were transiently transfected into CHO cells containing a stably integrated gene for bovine , and the media were analyzed for holoproteins, which were characterizedin vitro using competitive binding and steroidogenic assays with MA-10 cells. hCG(Glu-54) bound to almost as well as hCG wild-type, and the resulting heterodimer competed with [125l]hCG binding to the LH/CG receptor and stimulated progesterone production to the same extent as the wild-type control. However, the apparent potencies, as judged by ED50s, were less than those of the wild-type control, the effect being more pronounced in binding than in steroidogenesis. In contrast, hCG(Lys-54) associated very poorly with . Our results suggest that while Gin-54 in hCG participates in receptor binding, its major function appears to involve binding. Such dual functionality leads to interesting models for holoprotein formation and receptor binding. 相似文献
12.
Jae-Suk Choi Ji-Young Cho Long-Guo Jin Hyung-Joo Jin Yong-Ki Hong 《Journal of applied phycology》2002,14(2):115-121
In order to maintain axenic seedstock cultures axenically of thecommercially important red seaweed, Porphyra yezoensis, aprocedure was developed for axenic isolation and culture of conchocelis andmonospores. For axenic isolation of the conchocelis, contaminated microalgaewere most effectively removed by filtering contaminated samples through a100-m mesh after sonication. Removal of bacteria and otheralgaewas accomplished using a mixture of 5 agents (0.02% chitosan, 100 gml–1 GeO2, 10 gml–1 ampicillin, 40 gml–1 kanamycin and 200 gml–1 streptomycin). Axenic single colonies wereisolatedfrom a semi-solid medium prepared from 1% transfer gel. After collectingmonospores from the 40–50% density layer on a percoll-gradient, removalofbacteria and fungi from the monospores was accomplished using a mixture of 5antibiotics (3.5 g ml–1 nystatin, 2 mgml–1 ampicillin, 400 gml–1 kanamycin, 50 gml–1 neomycin and 800 gml–1 streptomycin). Axenic single juvenile blades wereisolated from a semi-solid medium prepared from 0.5% transfer gel. 相似文献
13.
Biofilm development on AISI-1020 carbon steel coupons installed at the outlet of a heat exchanger was evaluated at the thirtieth and the sixtieth days of exposure. Water temperature varied between 41 and 60°C. The most probable number technique (MPN) was applied to quantify mesophilic and thermophilic species of aerobic, anaerobic, and sulphate-reducing bacteria (SRB) in planktonic and sessile phases. The results showed predominance of thermophilic aerobic bacteria in both phases, corresponding to 9.5±0.8×106cells/ml in the planktonic phase. In biofilms, maximal aerobic cell concentration, 7.8±0.6×108cells/cm2, was registered at the sixtieth day. An increase in the number of thermophilic anaerobic and SRB with elapsed time was also observed. The results obtained after 60 days were 5.8±0.4×107 and 8.9±0.9×104cells/cm2 for anaerobic and sulphate-reducing bacteria, respectively. Scanning electron microscopy showed a varied composition of species in the biofilms and corrosion on the carbon steel surfaces after biofilm removal. 相似文献
14.
M. T. Boisseau-Lebreuil 《Mycopathologia》1977,61(2):85-91
The 22 strains of Emmonsia Ciferri & Montemartini 1959, inoculated intranasally to laboratory mice are not equally virulent. One month after the inoculation, 15 of the strains had produced adiaspores 120 to 190 m in diameter in the lung. Another strain produced adiaspores measuring 44 m and 2 others measuring 20 m or 10 m. The remaining 4 strains did not develop in the lung tissue. Four thermophilic strains, which in vitro have adiaspores measuring 8 to 15 m, had adiaspores reaching 120–180 m in vivo. Neither budding nor endosporulation could be observed in any adiaspore.
Differents comportements de 22 souches d'Emmonsia Cifferi et Montemartini, 1959, champignon moniliace, dans les poumons de souris de laboratoire, Comparaison avec leur morphologie parasitaire es vitro
Résumé Vingt deux souches d'Emmonsia Ciferri et Montemartini, 1959, inoculées par instillations nasales à des souris de laboratoire, ne présentent pas toutes la même virulence. Un mois après l'inoculation, quinze d'entre elles donnent dans le parenchyme pulmonaire des adiaspores de 120–190 m de diamètre, une souche, des adiaspores de 44 m, une autre, des adiaspores de 20 m et une autre, des adiaspores de 10 m. Les quatre dernières ne se développent pas dans les poumons. Quatre souches thermophiles, donnant in vitro de petites adiaspores de 8–15 m, différencient in vivo des adiaspores de 120–180 m. Aucun phénomène de bourgeonnement ou d'endosporulation n'est observé sur aucune adiaspore.相似文献
15.
Christakopoulos P. Mamma D. Kekos D. Macris B.J. 《World journal of microbiology & biotechnology》1999,15(4):443-446
Production of acetyl esterase (EC 3.1.1.6) by Fusarium oxysporum strain F3 was enhanced by optimization of growth conditions. Under optimal conditions, activities as high as 0.89U/ml of culture medium were obtained. The culture filtrate was equally active on p-nitrophenyl acetate and acetylxylan. The enzyme produced 71% deacetylation of acetylxylan in 2h at 40C. Activity was optimized at pH6.5 and at 55C. The respective Km values for p-nitrophenyl acetate and acetylxylan were 0.25mM and 1.05% (w/v) and the Vm values were 0.65 and 0.43mol acetate/min/mg protein. 相似文献
16.
We used ultrasonic telemetry to examine movement patterns of 11 bat rays, Myliobatis californica, in Tomales Bay, California. Tomales Bay is long (20km) and narrow (1.4km), and is hydrographically separated into outer and inner bay regions. The outer bay (the outermost 8km) is characterized by oceanic conditions while the shallow inner bay (the innermost 12km) features wide seasonal temperature shifts. Five rays were tracked monthly from October 1990 to November 1991 and six rays (four of which carried temperature-sensing transmitters) were tracked daily from 30 June to 16 July 1992. Mean bat ray movement rate was 8.84mmin–1 (range 4.49 to 13.40mmin–1) and was not significantly affected by size (p=0.592), tidal stage (p=0.610), or time of day (p=0.327). Movement direction was unrelated to tidal stage (p=0.472) but showed a highly significant diel pattern (p<0.001). From 2:50–14:50h, rays moved toward the warmer and shallower inner bay, while from 14:50–2:50h they moved toward the cooler and deeper outer bay. These telemetry data, along with known bat ray foraging patterns and respiratory temperature-sensitivity, argue for behavioral thermoregulation as the primary influence on this movement pattern. 相似文献
17.
T. H. J. Huisman F. Kutlar T. Nakatsuji A. Bruce-Tagoe Y. Kilinç M. N. Cauchi C. Romero Garcia 《Human genetics》1985,71(2):127-133
Summary The occurrence of the AT chain (i.e. A75 Ile Thr) in different populations was evaluated through a study of 4250 cord blood samples and blood samples from more than 350 SS1 patients. High frequencies were observed in Italy, Yugoslavia, Turkey, Holland, but also in Japan, Vietnam, and India. The chain is (nearly) absent in the Black population of Ghana and Kenya, and low frequencies were observed in China and Australian aborigines. Only a few adult SS patients (18 out of 357) were AT heterozygotes. The chromosomes with the AT globin gene were mapped through an evaluation of the presence of 10 different restriction sites. The AT chromosomes from different populations were closely related and had the same subhaplotypes of [--++-+] (Hinc II 5 to ; Xmn I 5 to G; Hind III in G and A; Hinc II in and 3 to ), quite different from the subhaplotypes seen for AT negative chromosomes.2 This suggests a common ancestor which may have originated in Southern Europe. An evaluation of the chain production by both chromosomes in SS patients and -thalassemia heterozygotes was possible for subjects with an AT heterozygosity. It was concluded that in -thalassemia trait, the chain synthesis is directed for about two-thirds by the thalassemic chromosome and for about onethird by the normal chromosome; the contribution by the normal chromosome decreases with a decrease in total chain production.This is contribution #0890 of the Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, GA 30912, USA 相似文献
18.
Thimdee W. Deein G. Sangrungruang C. Matsunaga K. 《Wetlands Ecology and Management》2004,12(2):135-144
Stable carbon (13C) and nitrogen (15N) isotopes were used to elucidate primary food sources and trophic relationships of organisms in Khung Krabaen Bay and adjacent offshore waters. The three separate sampling sites were mangroves, inner bay and offshore. The 13C values of mangrove leaves were –28.2 to –29.4, seagrass –10.5, macroalgae –14.9 to –18.2, plankton –20.0 to –21.8, benthic detritus –15.1 to –26.3, invertebrates –16.5 to –26.0, and fishes –13.4 to –26.3. The 15N values of mangrove leaves were 4.3 to 5.7, seagrass 4.3, macroalgae 2.2 to 4.4, plankton 5.7 to 6.4 , benthic detritus 5.1 to 5.3, invertebrates 7.2 to 12.2 , and fishes 6.3 to 15.9. The primary producers had distinct 13C values. The 13C values of animals collected from mangroves were more negative than those of animals collected far from shore. The primary carbon sources that support food webs clearly depended on location. The contribution of mangroves to food webs was confined only to mangroves, but a mixture of macroalgae and plankton was a major carbon source for organisms in the inner bay area. Offshore organisms clearly derived their carbon through the planktonic food web. The 15N values of consumers were enriched by 3–4 relative to their diets. The 15N data suggests that some of aquatic animals had capacity to change their feeding habits according to places and availability of foods and as a result, individuals of the same species could be assigned to different trophic levels at different places. 相似文献
19.
Summary Simple pseudo-3D modifications to the constant-time HSQC and HCACO experiments are described that allow accurate (±0.5 Hz) measurement of one bond JCH coupling constants in proteins that are uniformly enriched with 13C. An empirical ,-surface is calculated which describes the deviation of 1JCH from its random coil value, using 203 1JCH values measured for residues in the proteins calmodulin, staphylococcal nuclease, and basic pancreatic trypsin inhibitor, for which and are know with good precision from previous X-ray crystallographic studies. Residues in -helical conformation exhibit positive deviations of 4–5 Hz, whereas deviations in -sheet are small and, on average, slightly negative. Data indicate that 1JCH depends primarily on , and that 1JCH may be useful as a qualitative probe for secondary structure. Comparison of 1JCH coupling constants measured in free calmodulin and in its complex with a 26-aminoacid peptide fragment of myosin light-chain kinase confirm that the calmodulin secondary structure is retained upon complexation but that disruption of the middle part of the central helix is even more extensive than in free calmodulin.
Supplementary material available from the authors: One table listing 352 1JCH and 1J-values, together with ,-values for 203 residues of known conformation. Two figures showing (a) a Ramachandran plot of the ,-values of 203 residues used in deriving 1J(,), and (b) the r.m.s.d. 1J(,) distribution. 相似文献
20.
The stable isotope ratios of nitrogen were measured in the mysid,Neomysis intermedia, together with various biogenic materials in a eutrophic lake, Lake Kasumigaura, in Japan throughout a year of 1984/85. The mysid, particulate organic matter (POM, mostly phytoplankton), and zooplankton showed a clear seasonal change in 15N with high values in spring and fall, but the surface bottom mud did not. A year to year variation as well as seasonal change in 15N was found in the mysid. The annual averages of 15N of each material collected in 1984/85 are as follows: surface bottom mud, 6.3 (range: 5.7–6.9); POM, 7.9 (5.8–11.8); large sized mysid, 11.6 (7.7–14.3); zooplankton, 12.5 (10.0–16.4); prawn, 13.2 (9.9–15.4); goby, 15.1 (13.8–16.7). The degree of15N enrichment by the mysid was determined as 3.2 by the laboratory rearing experiments. The apparent parallel relationship between the POM and the mysid in the temporal patterns of 15N with about 3 difference suggests the POM (mostly phytoplankton) as a possible food source ofN. intermedia in this lake through the year. 相似文献