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91.
The hepatitis B virus (HBV) genome is known to contain four conserved and overlapped open reading frames (ORFs) encoding the viral core, polymerase (P), surface (S), and X proteins. Whether HBV encodes other proteins has long been a major interest in the field. Using (32)P-labeling of an introduced protein kinase A site attached to the N- or C-terminus of the HBV polymerase gene, a 43-kDa P-S fusion protein was detected in cell lysate, secreted virions, and 22-nm subviral particles. Immunobiochemical studies showed that the 43-kDa protein contains the epitopes of the N-terminus of polymerase and most parts of the surface proteins. This 43-kDa protein was shown to be a glycoprotein, similar to the surface protein. RT-PCR and sequence analyses identified a spliced mRNA which was derived from pregenomic RNA with a deletion of 454 nucleotides (nt) from nt 2447 to 2902. This splice event creates a P-S fusion ORF. This finding is consistent with the result obtained from an immunobiochemical study. Mutations at the splice donor or acceptor site on the HBV genome abrogated the production of the 43-kDa protein. These mutants had no effect on viral replication in transfected HuH-7 cells. However, this P-S fusion protein is able to substitute for the LS protein in virion maturation. On the basis of these results, we conclude that the 43-kDa protein is a polymerase-surface fusion protein encoded by a spliced RNA. Similar to the LS protein, the 43-kDa P-S fusion protein is a structural protein of HBV and might play a role in the HBV life cycle. 相似文献
92.
Trisomy 8 in myelodysplasia and acute leukemia is constitutional in 15-20% of cases. 总被引:2,自引:0,他引:2
Emanuela Maserati Fiorenza Aprili Fabrizio Vinante Franco Locatelli Giovanni Amendola Adriana Zatterale Giuseppe Milone Antonella Minelli Franca Bernardi Francesco Lo Curto Francesco Pasquali 《Genes, chromosomes & cancer》2002,33(1):93-97
The trisomy 8 found in malignancies may derive from a constitutional trisomy 8 mosaicism (CT8M), and in these cases the trisomy itself may be regarded as the first mutation in a multistep carcinogenetic process. To assess the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8, an informative sample of 14 patients was collected. The data ascertained included chromosome analyses of fibroblast cultures and of PHA-stimulated blood cultures in patients with normal blood differential count, as well as possible CT8M clinical signs. One patient showed trisomy 8 in all cell types analyzed and undoubtedly has a CT8M; a second patient consistently showed trisomy 8 in PHA-stimulated blood cultures when no immature myeloid cells were present in blood and should be considered as having CT8M; a third patient, with Philadelphia-positive chronic myelocytic leukemia, was more difficult to interpret, but the possibility that she had CT8M is likely. A few clinical signs of CT8M were also present in these three patients. Our data indicate that the frequency of CT8M in hematological dysplastic and neoplastic disorders with trisomy 8 is approximately 15-20%. 相似文献
93.
E D'Alessandro V Santiemma M L Lo Re C Ligas G Del Porto 《American journal of medical genetics》1992,44(2):220-222
A woman with a history of recurrent abortions, idiopathic hypoprolactinemia, and an apparent 6p partial deletion mosaicism is described. The breakpoint in the short arm of chromosome 6 was in the p23 region. This deletion could have been caused by a fragile site in 6p23. 相似文献
94.
Minelli A Maserati E Giudici G Tosi S Olivieri C Bonvini L De Filippi P Biondi A Lo Curto F Pasquali F Danesino C 《Cancer Genetics and Cytogenetics》2001,124(2):147-151
Two sisters are reported, both with a myelodysplastic syndrome (MDS) associated with partial monosomy 7. A trisomy 8 was also present in one of them, who later developed an acute myeloid leukemia (AML) of the M0 FAB-type and died, whereas the other died with no evolution into AML. Besides FISH studies, microsatellite analysis was performed on both sisters to gather information on the parental origin of the chromosome 7 involved in partial monosomy and of the extra chromosome 8. The chromosomes 7 involved were of different parental origin in the two sisters, thus confirming that familial monosomy 7 is not explained by a germ-line mutation of a putative tumor-suppressor gene. Similar results were obtained in two other families out of the 12 reported in the literature. Noteworthy is the association with a mendelian disease in 3 out of 12 monosomy 7 families, which suggest that a mutator gene, capable of inducing both karyotype instability and a mendelian disorder, might act to induce chromosome 7 anomalies in the marrow. We postulate that, in fact, an inherited mutation in any of a group of mutator genes causes familial monosomy 7 also in the absence of a recognized mendelian disease, and that marrow chromosome 7 anomalies, in turn, lead to MDS/AML. 相似文献
95.
Guiding the hand that feeds. Caring for the demented elderly 总被引:3,自引:0,他引:3
96.
Recent developments in fetal nucleic acids in maternal plasma: implications to noninvasive prenatal fetal blood group genotyping. 总被引:2,自引:0,他引:2
Y M D Lo 《Transfusion Clinique et Biologique》2006,13(1-2):50-52
The discovery of circulating cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. Fetal DNA in maternal plasma has been used for the noninvasive prenatal determination of the RhD status of fetuses carried by RhD-negative pregnant women. In such analysis, the possible need of an internal control for the presence of detectable amounts of fetal DNA in a particular maternal plasma sample has been actively discussed. Recently, the development of a robust method for discriminating single nucleotide differences in plasma DNA using single allele base extension reaction (SABER) followed by matrix-assisted laser-desorption and ionization time-of-flight mass spectrometry (MALDI-TOF MS) has opened up the possibilities of using a panel of single nucleotide polymorphisms as such a positive control. A second approach is the recent successful development of fetal epigenetic markers which can be developed into universal fetal DNA markers. These developments hold promise to allow the eventual widespread utilization of maternal plasma DNA analysis for the noninvasive prenatal diagnosis of blood group mismatches between the mother and fetus. 相似文献
97.
An adult patient presented with vesicular rash and abdominal pain of 5 days duration. His initial laboratory results showed elevated liver enzymes. A contrast enhanced CT scan demonstrated multiple small hypodense nodules in liver and spleen. His serum was reactive for Varicella Zoster IgM. Patient was treated with intravenous Acyclovir for 5 days and followed up with oral tablets for 2 weeks. At 3 weeks, CT scan showed resolution of hypodense nodules and his serum liver enzymes returned to normal at 6 weeks. Patient is on follow up and asymptomatic for 2 years. The CT appearances of nodules and their resolution following specific antiviral therapy are useful in diagnosis and in follow up of disseminated Varicella Zoster. 相似文献
98.
M Ferrari S Tardivo M E Zanolin M Olivieri G Lampronti C Biasin A Poli F Balestreri R de Marco V Lo Cascio 《Annals of allergy, asthma & immunology》1999,83(5):391-396
BACKGROUND: A number of epidemiologic studies have tried to establish whether respiratory tract infections in early childhood cause obstructive pulmonary disease in adult life. OBJECTIVE: To determine whether reported serious respiratory infection before the age of 5 years (SRI) is a significant risk factor for subsequent development of bronchial asthma and/or bronchial hyperresponsiveness in adults. METHODS: We investigated a random population sample of 1,104 subjects (aged 20 to 40 years), participating in the European Respiratory Health Survey in Italy. Bronchial response to methacholine and answers to a standardized questionnaire were analyzed. RESULTS: The prevalence of SRI (ie, a positive response to the question "Have you ever had a serious respiratory infection before the age of 5 years?") was significantly higher in the subjects with a positive family history of allergic diseases than in those with a negative one (O.R. 1.89; 95% C.I. 1.24 to 2.87, P < .01). No relationship was found between SRI and current adult asthma; however, asthma in the past was found in 20.5% of the SRI positive subjects and in 9.1% of SRI negative subjects (O.R. 2.47; 95% C.I. 1.47 to 4.15, P < .05). No difference in the response to methacholine and in FEV1, FEV1/FVC values was found between SRI positive and SRI negative subjects. CONCLUSIONS: We suggest that a positive family history of atopy is associated with a significantly higher prevalence of SRI. Furthermore our results indicate that exposure to SRI is a risk factor for asthma in the past (ie, asthma in childhood and adolescence) but not for adult asthma or for the development of bronchial impairment in adult life. 相似文献
99.
Conotruncal anomalies in the trisomy 16 mouse: an immunohistochemical analysis with emphasis on the involvement of the neural crest 总被引:5,自引:0,他引:5
Waller BR McQuinn T Phelps AL Markwald RR Lo CW Thompson RP Wessels A 《The Anatomical record》2000,260(3):279-293
The trisomy 16 (Ts16) mouse is generally considered a model for human Down's syndrome (trisomy 21). However, many of the cardiac defects in the Ts16 mouse do not reflect the heart malformations seen in patients suffering from this chromosomal disorder. In this study we describe the conotruncal malformations in mice with trisomy 16. The development of the outflow tract was immunohistochemically studied in serially sectioned hearts from 34 normal and 26 Ts16 mouse embryos ranging from 8.5 to 14.5 embryonic days. Conotruncal malformations observed in the Ts 16 embryos included double outlet right ventricle, persistent truncus arteriosus, Tetralogy of Fallot, and right-sided aortic arch. This spectrum of malformations is remarkably similar to that seen in humans suffering from DiGeorge syndrome (DGS). As perturbation of neural crest development has been proposed in the pathogenesis of DGS we specifically focussed on the fate of neural crest derived cells during outflow tract development of the Ts16 mouse using an antibody that enabled us to trace these cells during development. Severe perturbation of the neural crest-derived cell population was observed in each trisomic specimen. The abnormalities pertained to: 1) the size of the columns of neural crest-derived cells (or prongs); 2) the spatial orientation of these prongs within the mesenchymal tissues of the outflow tract; and 3) the location in which the neural crest cells interact with the myocardium. The latter abnormality appeared to be responsible for ectopic myocardialization found in trisomic embryos. Our observations strongly suggest that abnormal neural crest cell behavior is involved in the pathogenesis of the conotruncal malformations in the Ts16 mouse. 相似文献
100.
Clinical profiling of recombinant follicle stimulating hormone (rFSH; Puregon): relationship between serum FSH and efficacy 总被引:9,自引:0,他引:9
Single-dose and multiple-rising dose studies of recombinantfollicle stimulating hormone (rFSH) in hypogonadotrophic maleand female volunteers demonstrated that the rate of FSH absorptionafter i.m. injection is higher in men than in women. In theabsence of endogenous FSH, a correlation between serum FSH andbody weight became apparent. The elimination half-life of rFSHwas not different between the sexes and was comparable withurinary FSH. However, the in-vitro bio:immuno ratio of serumFSH was significantly higher after the administration of rFSHthan after urinary FSH. When rFSH was administered daily witha fixed dose, steady state levels were reached within 3-5 days.Serum FSH concentrations increased in a dose-dependent mannerwhen the daily dose was increased weekly over 3 weeks from 75to 225 IU. In hypogonadotrophic women, rFSH induced normal folliculargrowth whereas oestrogen synthesis was impaired. In women pituitarysuppressed by a high-dose oral contraceptive, the daily administrationof 150 IU rFSH for 1 week induced more and larger antral folliclesthan the same regimen with urinary FSH, whereas the serum immunoactiveFSH concentrations measured 24 h after each dosing were similar.It is concluded that even though equal or lower serum immunoactiveFSH concentrations were obtained following the administrationof rFSH compared with urinary FSH, circulating bioactivity FSHconcentrations were higher. Therefore, the conventional ideathat serum immunoreactive FSH correlates positively with themagnitude of the ovarian response should be reconsidered. 相似文献