三个新的PAH基因短串联重复序列多态性及其在苯丙酮尿症产前诊断中的应用

目的提高经典型苯丙酮尿症的产前诊断的成功率。方法在苯丙氨酸羟化酶（phenylalanine hydroxylase，PAH）基因附近选择了3个新的短串联重复序列（short tandem repeat，STR）位点（PAH26、PAH32和PAH9），进行扩增长度片段多态性分析，确定它们在中国人群的分布及在诊断中的应用价值。结果3个新的STR位点的多态信息含量分别为0．518（PAH26）、0．413（PAH32）和0．362（PAH9）。这3个位点之间，PAH9与第3内含子中的STR位点（TCTA）n之间存在连锁不平衡，其他位点组合不存在连锁不平衡。联合第3内含子中的STR位点（TCTA）n和2个新的位点，可以对家系中突变基因标记进行95％N断，并成功地用于4例产前诊断中。结论选择性地应用PAH基因中的3个STR位点组合，可以95％地区分经典型苯丙酮尿症家系中父母的两个基因，从而准确地进行快速产前诊断。     

细胞因子对T细胞生长激素基因表达的影响

目的 探讨各种细胞因子对T细胞生长激素（GH）基因表达的影响。方法 构建含人GH调控序列的荧光素酶报告基因质粒pGL2-GH-luc，然后转染入T淋巴细胞系Jurkat E6-1细胞中，在培养液中分别加入各种细胞因子。结果 生理浓度的IL－1β，TNF－β和IFN－γ，对Jurkat细胞中荧光素酶的表达具有抑制作用（P＜0．05）。结论 细胞因子参与了调节淋巴细胞GH基因的表达。     

Recombination pattern of the TCR γ locus in human peripheral T-cell lymphomas

The recombination events of the γ and β T-cell receptor (TCR) loci were analysed in a series of 39 peripheral T-cell lymphomas (PTCLs) in association with the expression of TCR chains. In TCR αβ PTCLs, 22/23 cases showed a γ-gene rearrangement while only 18/23 showed a concomitant β-gene rearrangement. The germline configuration of the β locus was found in angioimmunoblastic lymphadenopathy and lymphoepithelioid lymphomas. Three γδ PTCLs rearranged both γ and β genes. TCR silent PTCLs showed three different patterns of γ- and β-gene rearrangements. Three cases were in germline configuration for both loci; five cases had a rearranged γ and a germline β locus; and five cases had the two loci rearranged. Regarding the variable genes in the γ-rearranged alleles, members of the VγI subgroup were the most frequently presented (39/50), followed by VγII, VγIII, and VγIV (9/50, 1/50, and 1/50, respectively). Joining segment usage was as follows: J1 or J2 (32/50), JP1 or JP2 (17/50), and JP (1/50). Taken together, these data demonstrate that the γ locus is more frequently rearranged whatever the TCR expression. The γ-locus analysis provides a better diagnostic yield than the β locus in the study of PTCL clonality.     

The hormonal responses to repetitive brief maximal exercise in humans

Summary The responses of nine men and nine women to brief repetitive maximal exercise have been studied. The exercise involved a 6-s sprint on a non-motorised treadmill repeated 10 times with 30 s recovery between each sprint. The total work done during the ten sprints was 37,693±3,956 J by the men and 26,555±4,589 J by the women (M > F,P<0.01). This difference in performance was not associated with higher blood lactate concentrations in the men (13.96± 1.70 mmol·^–1) than the women (13.09±3.04 mmol·l^–1). An 18-fold increase in plasma adrenaline (AD) occurred with the peak concentration observed after five sprints. The peak AD concentration in the men was larger than that seen in the women (9.2 +- 7.3 and 3.7 ± 2.4 nmol · l^–1 respectively,P<0.05). The maximum noradrenaline (NA) concentration occurred after ten sprints in the men (31.6±10.9 nmol·l^–1) and after five sprints in the women (27.4 ± 20.8 nmol · l^–1). Plasma cardiodilatin (CDN) and atrial natriuretic peptide (ANP) concentrations were elevated in response to the exercise. The peak ANP concentration occurred immediately postexercise and the response of the women (10.8 ± 4.5 pmol · l^–1 was greater than that of the men (5.1 ± 2.6 pmol · l^–1,P<0.05). The peak CDN concentrations were 163 ± 61 pmol · l^–1 for the women and 135 ± 61 pmol · l^–1 for the men. No increases in calcitonin gene related peptide (CGRP) were detected in response to the exercise. These results indicate differences between men and women in performance and hormonal responses. There was no evidence for a role of CGRP in the control of the cardiovascular system after brief intermittent maximal exercise.     

恶性疟原虫抗原基因在鼠伤寒沙门氏菌中的表达及免疫原性的初步鉴定

将人工合成的恶性疟原虫杂合７４肽抗原基因克隆到表达载体ｐＷＲ４５０－１中，获得了重组质粒ｐＷＲＣ，将其先转化到减毒伤寒沙门氏菌ＬＢ５０００修饰后，再转化到ＳＬ３２６１，得到重组减毒鼠伤寒沙门氏菌ＳＬ３２６１（ｐＷＲＣ）。ｐＷＲＣ在ＳＬ３２６１中以β－半乳糖苷酶－杂合多肽抗原Ｃ融合蛋白（ＧＺ－Ｃ）形式表达，表达量约占菌体蛋白总量的１１．３％．Ｗｅｓｔｅｒｎｂｌｏｔ及免疫双扩散显示ＧＺ－Ｃ可与兔抗ＧＺ－Ｃ抗原的免疫血清发生特异反应。ＧＺ－Ｃ识别兔抗ＧＺ－Ｃ及鼠抗恶性疟原虫抗血清的ＥＬＩＳＡ滴度分别为１：３２００及１：５１２０。初步结果表明ＳＬ３２６１（ｐＷＲＣ）表达的ＧＺ－Ｃ具有抗原性。连续传代ＳＬ３２６１（ｐＷＲＣ）未见质粒ｐＷＲＣ丢失及对宿主有明显的毒性。     

Localization of parvalbumin mRNA in rat brain by in situ hybridization histochemistry

Summary Parvalbumin mRNA was localized in rat brain by in situ hybridization using a ³⁵S labelled rat parvalbumin cDNA and a synthetic oligodeoxyribonucleotide (corresponding to base sequences 140 to 183 of rat parvalbumin cDNA). Strongest hybridization signals were detected in the Purkinje cells of the cerebellum and in neurones of the reticular nucleus of the thalamus. Signal was also detected in the cerebral cortex, hippocampus, basal ganglia and brain stem in agreement with the distribution of parvalbumin immunoreactivity.     

Evidence for the involvement of HLA-DR antigens in restricted cytotoxicity by fetal calf serum-specific human T cells

Fetal calf serum (FCS) generated at least two distinct populations of human cytotoxic cells in vitro. One population expressed natural killer (NK) cell-like activity and lysed K562 and HSB-2 targets more effectively than autologous or allogeneic lymphoblastoid cell lines (LCLs). The other population contained FCS-specific cytotoxic T cells which preferentially lysed the autologous LCLs and showed minimal lysis of K562. E-rosette separation and cold target competition experiments clearly established that NK cells were not involved in the self-reactive lysis. Moreover, the lytic activity of the E-rosetted T cells was reduced by up to 95% when autologous target cells were grown in human AB serum rather than FCS, showing that FCS-associated determinants on targets were essential in the cytolytic phase. Autologous LCLs grown in FCS were also considerably stronger competitors than human serum-grown LCLs. The consistent self-preferred lysis suggested that HLA antigen-related restriction was involved, but the patterns of lysis did not implicate HLA-A or B antigens, and monoclonal antibody (W6/32) to an A, B, and C monomorphic determinant failed to block FCS-specific lysis. In contrast, monoclonal antibody (DA.2) to a monomorphic determinant of DR effectively blocked FCS-specific lysis. Cytotoxicity tests with a small panel of DR-typed donors indicated that strong cross-reactions were invariably associated with sharing of DR antigens, particularly DR2, and to a lesser but significant extent DR7. Although DR antigen sharing did not always result in lysis of allogeneic targets, the overall evidence strongly suggests that FCS-specific T-cell cytotoxicity in humans is restricted by products encoded by or associated with the DR genes.     

大鼠延髓内神经激肽B受体神经元对腹膜伤害性刺激的Fos表达——免疫组织化学双重染色研究

为探讨神经激肽Ｂ受体（ｎｅｕｒｏｋｉｎｉｎｂｒｅｃｅｐｔｏｒ，ＮＫＲ）神经元在大鼠延髓的定位及其在腹膜伤害性传入信息整合中的作用。应用免疫组织化学双重染色方法，显示ＮＫＲ神经元的分布并观察它们对腹膜化学伤害性刺激的Ｆｏｓ表达。结果表明：ＮＫＲ样免疫反应（ＮＫＲ－ＬＩ）神经元主要分布在孤束核（Ｓｏｌ）、延髓腹外侧区（ＶＬＭ）、三叉神经脊束核尾侧亚核（Ｓｐ５Ｃ）浅层和三叉旁核（Ｐａ５）。腹膜伤害性刺激激诱导的Ｆｏｓ表达神经元多数分布在Ｓｏｌ、ＶＬＭ、Ｐａ５和最后区。Ｓｏｌ、ＶＬＭ和Ｐａ５中约３０．１％的ＮＫＲ－ＬＩ神经元同时呈Ｆｏｓ样免疫反应。本研究提示：延髓内上述核团ＮＫＲ－ＬＩ神经元与腹膜伤害性初级传入信息的整合有关，可能参与内脏伤害性刺激的抗伤害性感受（ａｎｔｉ－ｎｏｃｅｃｉｐｔｉｏｎ）过程。