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中国人戈谢病基因突变的分析 总被引:1,自引:0,他引:1
目的 回顾及分析中国人戈谢病(Gaucher disease,GD)的基因突变类型,观察其与临床表型的相关性.方法 用基因分析的方法包括用特异限制性内切酶酶切PCR产物,检测中国人戈谢病患者已知突变位点;对含有未知突变基因的个体采用长链PCR方法,分段扩增葡萄糖脑苷脂酶的功能基因,再用巢式PCR分别扩增功能基因的外显子序列,进行DNA序列测定.结果 总结本实验室检测到的40种突变类型,常见的突变等位基因为L444P,占突变基因的33.O%,其他较常见的突变为F213I、N188S、V375L和M416V.结论 中国人GD患者中起码存在40种突变类型,基因突变类型谱与白种人有明显的区别.目前已明确70%的基因突变类型,通过基因分析进行GD的临床诊断和产前诊断已成为可能. 相似文献
114.
Pulmonary nodules and the CT halo sign 总被引:7,自引:0,他引:7
115.
Possible signs of paratracheal lymphadenopathy on the posteroanterior (PA) chest radiograph were assessed in 98 patients and correlated with computed tomography (CT). The nodes were normal in size in 62 patients and enlarged (greater than 15 mm) in 36. Among the latter group, widening of the right paratracheal stripe was seen in 11 (31%) and enlargement of the azygos node in 15 (42%). While the lateral contour of the superior vena cava (SVC) was convex in 46 patients (47%), 81 (83%) had an increased density in the region of the SVC. When all four parameters were combined, lymphadenopathy could be detected on the PA view in 87 patients (89%). CT demonstrated that the enlarged nodes were anterolateral rather than directly lateral to the trachea and also immediately posterior to the SVC, explaining the findings on the PA radiograph. 相似文献
116.
Monoclonal antibody studies in non-Hodgkin's lymphoma 总被引:7,自引:0,他引:7
The cell lineage of suspensions prepared from 85 non-Hodgkin's lymphomas was investigated with a panel of 10 monoclonal antibodies and conventional surface marker techniques. Surface immunoglobulin, assessed with specific heteroantisera, proved to be the most useful characteristic and defined the clonal character and B-cell lineage of 63 specimens: almost all nodular lymphocytic (21 of 22) and diffuse lymphocytic (11 of 13) lymphomas, most diffuse histiocytic (29 of 33) and diffuse mixed (2 of 2) lymphomas, and a few nodular mixed (2 of 12) and nodular histiocytic (0 of 3) lymphomas. Monoclonal antibodies provided useful ancillary surface marker criteria. Thus, positivity with OKT1 (which detects both thymic and peripheral T cells) in the absence of reactivity with monoclonal antisera, which detect only peripheral T cells (OKT3, OKT4, OKT8, and OKT11), was seen only in diffuse lymphocytic lymphoma of B lineage. Ia-like antigen could be demonstrated in all B-cell lymphocytic lymphomas and most B-cell diffuse histiocytic lymphomas. Approximately one-half of diffuse histiocytic lymphomas also reacted with OKT9, which detects the transferrin receptor, while few lymph nodes involved by other conditions displayed this reactivity. Most diffuse histiocytic lymphomas and many non-Hodgkin's lymphomas of other subtypes reacted with OKT10, an antiserum that detects an antigen on replicating lymphoid cells. The lineage of approximately one-fourth of the lymphoma suspensions was not resolved conclusively: In most of these, T lymphocytes predominated with a normal proportion of inducer-helper (OKT4) and cytotoxic-suppressor (OKT8) cells. The inability to establish the clonal character of T-cell proliferation in cell suspensions remains an obstacle to completely defining the lineage of non-Hodgkin's lymphomas. 相似文献
117.
Deoxyribonucleoside triphosphate accumulation by leukemic cells 总被引:1,自引:0,他引:1
The toxicity of the deoxyribonucleosides, 2'-deoxyadenosine, 2'- deoxyguanosine, and thymidine, for human T lymphoblasts is mediated by the accumulation of the corresponding deoxyribonucleoside triphosphate (dATP, dGTP, or dTTP, respectively). We have examined whether leukemic cells of non-T-cell origin are capable of accumulating deoxyribonucleotides in culture and whether this capability correlates with the activities of purine metabolizing enzymes in these cells. We have found that non-T, non-B acute lymphoblastic leukemia cells with low ecto-5'-nucleotidase and high adenosine deaminase activities increase their dATP pools by greater than tenfold when exposed to deoxyadenosine and an inhibitor of adenosine deaminase in culture. Cells from 2 of 9 patients with chronic lymphocytic leukemia and 4 of 11 patients with acute nonlymphoblastic leukemia achieved similar elevations in dATP, but there was no relationship between dATP accumulation and adenosine deaminase, purine nucleoside phosphorylase, or ecto-5'-nucleotidase activities. Treatment of four individuals with acute lymphoblastic leukemia with the adenosine deaminase inhibitor, 2'- deoxycoformycin, resulted in elevations in plasma deoxyadenosine concentrations and in increments in lymphoblast dATP levels that were similar to those measured in lymphoblasts cultured with deoxyadenosine and deoxycoformycin prior to treatment. In vitro incubations of leukemic cells with deoxyribonucleosides may provide a rational basis for the use of these compounds as chemotherapeutic agents. 相似文献
118.
A simple method for preparation of C3c fragment from trypsinized serum- reacted zymosan 总被引:2,自引:0,他引:2
A simple method for preparing relatively pure C3c fragment from serum- reacted zymosan is described. Although hyperimmunization studies indicate contamination of the "C3c" product by C3d and immunoglobulin antigenic materials, these are present in such small amounts that they do not impair the effectiveness of the product as a reagent for absorbing anti-C3c reactivity from polyspecific antisera. Furthermore, two of the three hyperimmune sera contained such weak anti-C3d that they could serve as monospecific anti-C3c antiglobulin reagents if used at moderate dilution. Neutralization of accompanying anti-IgG and weak anti-IgM is easily accomplished with readily available purified immunoglobulins. Preliminary studies indicate that the C3c product should be adaptable to quantitative radioimmunoassay of anti-C3c antibody concentrations and equilibrium constants. 相似文献
119.
RA Sacher ; RG Strauss ; NL Luban ; M Feil ; HB Anstall ; A Barnes Jr ; VS Blanchette ; SH Butch ; HA Hume ; SV Kevy ; et al. 《Transfusion》1990,30(3):271-276
A questionnaire to determine patterns of neonatal red cell transfusion practice during 1985 was mailed to 2200 blood banks of American Association of Blood Banks (AABB) institutional members and children's hospitals. There were 915 responses (41.6%); 785 responses (86%) contained sufficient data for analysis. The majority (70.6%) of 785 responding hospitals were community/urban institutions. However, more highly specialized, pediatric hospitals were also represented by 92 university/tertiary-care hospitals (11.7% of respondents) and 29 children's hospitals (3.7% of respondents). Two-thirds of hospitals performed a major antiglobulin crossmatch (rather than an abbreviated one) before all neonatal red cell transfusions. The red cell preparation most frequently selected for small-volume transfusions was ABO and Rh group-specific red cell concentrates. When performing only large-volume exchange transfusions, 19.2 percent of hospitals used whole blood; all others prepared reconstituted units of red cells plus fresh-frozen plasma, a practice that frequently causes exposure to two donors per unit. Another practice likely leading to multiple donor exposure is the use of fresh-frozen plasma to adjust the hematocrit of red cell preparations to a predetermined value prior to a small-volume transfusion. Over one-half of hospitals adjusting hematocrits used plasma, presumably from one donor, to dilute packed red cells from another donor, a practice that has no apparent medical benefit. Most hospitals (63.4%) provided red cells with a reduced risk of transmitting cytomegalovirus; blood from seronegative donors was selected by 65 percent of hospitals. The majority of hospitals, including most of the community/urban hospitals, did not irradiate blood products before transfusion.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
120.