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681.
The molecular basis of beta-thalassemia in Lebanon: application to prenatal diagnosis 总被引:7,自引:0,他引:7
A study of the molecular lesions of beta-thalassemia in Lebanon revealed the presence of eight different mutations in 25 patients with Cooley's anemia. The IVS1 position 110 mutation predominated with a frequency of 62% and was almost invariably associated with Mediterranean chromosome haplotype I. Five other mutations commonly found in the Mediterranean area occurred with frequencies of 2% to 8%. In addition a G----C substitution in IVS1 position 5 (a lesion previously found in Chinese and Asian Indians) was demonstrated in a patient with Mediterranean haplotype IX. A new mutation at codon 29 was found in two other patients with haplotype II. The characterization of these beta-thalassemia mutations should allow the implementation of a prenatal diagnosis program in that country. 相似文献
682.
B cell growth factor-induced proliferation of hairy cell lymphocytes and inhibition by type I interferon in vitro 总被引:4,自引:0,他引:4
Malignant B cells from hairy cell leukemia (HCL) patients are unable to proliferate when stimulated with standard B cell mitogens. Using chromatographically purified B cell growth factor (BCGF), HCL can be stimulated to proliferate as assessed by incorporation of tritiated thymidine [3HTdR] into DNA. Proliferation was found to be time dependent, with no detectable 3H-TdR incorporation in up to three days of culture, and significant stimulation evident at days 6 and 10. The presence of 10% BCGF in culture was an absolute requirement for HCL proliferation; however, this BCGF-induced DNA synthesis could be further augmented by the addition of anti-immunoglobulin heavy chain antibodies. BCGF-induced proliferation was abrogated in six of six patients by addition of 1,000 U/mL of recombinant alpha 2-interferon (IFN) at day 0, although 1,000 U/mL of recombinant gamma-IFN had no inhibitory effect in five of six patients studied. Specific cellular receptors for type I IFN were demonstrated in HCL by inhibition of binding of 125I-alpha 2-IFN by a 40-fold excess of unlabeled alpha 2 or beta IFN with no inhibition by unlabeled gamma-IFN. These data demonstrate that malignant HCL lymphoblasts express specific type I IFN receptors and that type I, but not type II IFN, can inhibit growth factor-induced DNA synthesis by hairy cells in vitro. They further suggest a direct antiproliferative mechanism of action for IFN in HCL and predict equivalent clinical activity by either alpha or beta, but not gamma IFN in this malignancy. 相似文献
683.
High-intensity focused ultrasound extracorporeal ablation of liver tissues in rabbits 总被引:1,自引:0,他引:1
HighintensityfocusedultrasoundextracorporealablationoflivertissuesinrabbitsCHENGShuQun1,ZHOUXinDa1,TANGZhaoYou1,YUYao1,B... 相似文献
684.
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study 总被引:8,自引:4,他引:8
Antonarakis SE; Rossiter JP; Young M; Horst J; de Moerloose P; Sommer SS; Ketterling RP; Kazazian HH Jr; Negrier C; Vinciguerra C 《Blood》1995,86(6):2206-2212
Twenty-two molecular diagnostic laboratories from 14 countries participated in a consortium study to estimate the impact of Factor VIII gene inversions in severe hemophilia A. A total of 2,093 patients with severe hemophilia A were studied; of those, 740 (35%) had a type 1 (distal) factor VIII inversion, and 140 (7%) showed a type 2 (proximal) inversion. In 25 cases, the molecular analysis showed additional abnormal or polymorphic patterns. Ninety-eight percent of 532 mothers of patients with inversions were carriers of the abnormal factor VIII gene; when only mothers of nonfamilial cases were studied, 9 de novo inversions in maternal germ cells were observed among 225 cases (approximately 1 de novo maternal origin of the inversion in 25 mothers of sporadic cases). When the maternal grandparental origin was examined, the inversions occurred de novo in male germ cells in 69 cases and female germ cells in 1 case. The presence of factor VIII inversions is not a major predisposing factor for the development of factor VIII inhibitors; however, slightly more patients with severe hemophilia A and factor VIII inversions develop inhibitors (130 of 642 [20%]) than patients with severe hemophilia A without inversions (131 of 821 [16%]). 相似文献
685.
686.
687.
Zhang JW; Song WF; Zhao YJ; Wu GY; Qiu ZM; Wang FN; Chen SS; Stamatoyannopoulos G 《Blood》1993,81(6):1624-1629
We have identified and molecularly characterized a novel deletion in the beta-globin gene cluster that is associated with elevated fetal hemoglobin in the adult. The propositus is a homozygote from the Yunnan province of China. The deletion spans about 90 kb of DNA and removes the A gamma, delta, and beta-globin genes. The 5' breakpoint of the deletion is located about 0.13 kb upstream from the A gamma-globin gene, whereas the 3' breakpoint is located about 66 kb downstream from the beta-globin gene, about 13 kb upstream from the breakpoint of the Chinese (A gamma delta beta)zero-thalassemia. Heterozygotes for this Yunnanese form of (A gamma delta beta)zero-thalassemia express between 9% and 17% of fetal hemoglobin, whereas the homozygote present with a mild anemia (Hb = 10.7 g/dl). Comparison of the sites of 3' breakpoints of the Yunnanese and the Chinese (A gamma delta beta)zero-thalassemia mutants is compatible with the hypothesis that an enhancer element is located between the 3' breakpoints of these two mutants. Juxta-position to the G gamma gene of this element may be responsible for the efficient gamma-gene expression in the Yunnanese mutant. 相似文献
688.
Clonal origin of human erythro-eosinophilic colonies in culture 总被引:10,自引:0,他引:10
We have observed the presence of erythropoietic bursts containing eosinophils and their precursors in methylcellulose culture of human peripheral blood and marrow nucleated cells in the presence of erythropoietin and medium conditioned by phytohemagglutinin-stimulated leukocytes (PHA-LCM). It was possible to identify these bursts (colonies) in situ in methylcellulose culture on the basis of their unique red and black colors. Transmission electron microscopy revealed that the constituent erythroid and eosinophilic cells lay intermixed with each other, and through close intercellular connections formed compact colonies and bursts consisting of several sub-colonies. Differential counts of individual erythro-eosinophil colonies (EEo colonies) revealed only a small percentage of blast cells in most of the colonies. Replating experiments of single EEo colonies yielded only eosinophilic colonies and clusters and erythroid colonies. The clonal nature of the EEo colonies was documented by analysis of Y-chromatin- positive cells in individual EEo colonies derived from cocultures of male and female peripheral blood mononuclear cells. Comparison of conditioned media indicated that PHA-LCM is the best stimulator for EEo colonies. These studies suggest that the differentiation capabilities of the progenitors for EEo colonies are restricted to erythroid and eosinophilic differentiation. 相似文献
689.
M R Johnson G P Brayden E E Ericksen S M Collins D J Skorton D G Harrison M L Marcus C W White 《Circulation》1986,73(3):467-475
Although immediate and late changes in coronary stenoses after percutaneous transluminal coronary angioplasty (PTCA) have been reported, most investigators have employed qualitative or semiquantitative techniques to analyze the angiograms. Such data is not optimal because of considerable interobserver variability and the use of relative instead of absolute changes in lesion geometry. Analysis is further compounded by the indistinct edges that characterize coronary lesions immediately after angioplasty. To quantify the changes in minimal cross-sectional area (MCSA) of the coronary lumen that occur during and after PTCA, we analyzed the angiograms of 23 patients before PTCA, immediately after PTCA, and at 7.2 +/- 3.0 (mean +/- SD) months follow-up using two computer-assisted methods of angiographic analysis--quantitative coronary angiography (QCA) and videodensitometry (VID). QCA provides an absolute measure of the area of the lumen; VID is a nongeometric method that is not dependent on exact border recognition. Based on these quantitative methods, we found that successful angioplasty is associated with about a three-fold increase in the MCSA of the lesion (from 1.0 to 3.2 mm2). This area is, however, well below normal and is less than half of the average MCSA of the inflated dilating balloon. Analysis of follow-up angiograms demonstrated that eight of 23 patients had a substantial late increase in the MCSA of the lesion (from 2.7 to 4.1 mm2) after the angioplasty procedure. Clinical, hemodynamic, and angiographic characteristics immediately after PTCA were not predictive of MCSA of the lumen at follow-up.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
690.