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101.
102.
Wang Tao Liang Zhihou Sun Shenggang Cao Xuebing Peng Hai Cao Fei Liu Hongjin Tong E-tang 《华中科技大学学报(医学英德文版)》2003,23(2):145-147
Summary To investigate the distribution of possible novel mutations from parkin gene in variant subset of patients with Parkinson’s
disease (PD) in China and explore whether parkin gene plays an important role in the pathogenesis of PD, 70 patients were
divided into early-onset group and late-onset group; 70 healthy subjects were included as controls. Genomic DNA from 70 normal
controls and from those of PD patients were extracted from peripheral blood leukocytes by using standard procedures. Mutations
of parkin gene (exon 1–12) in all the subjects were screened by PCR-single strand conformation polymorphism (SSCP), and further
sequencing was performed in the samples with abnormal SSCP results, in order to confirm the mutation and its location. A new
missense mutation Gly284Arg in a patient and 3 abnormal bands in SSCP electrophoresis from samples of another 3 patients were
found. All the DNA variants were sourced from the samples of the patients with early-onset PD. It was concluded that Parkin
point mutation also partially contributes to the development of early-onset Parkinson’s disease in Chinese.
WANG Tao, male, born in 1961, Associate Professor
This work was supported by grants from the key program of the special scientific project of Scientific & Technologic Agency
of Hubei Province (Serial No. 2001AA308B01) and the Hygienic Research Project of Hygienic Agency of Hubei province (Serial
No. WJ 01529). 相似文献
103.
Sry监测体外扩增造血细胞植入效果的实验研究 总被引:2,自引:0,他引:2
目的:探讨Y染色体性别决定基因(Sry)作为评价和追踪造血细胞移植后植入状态检测指标的可行性。方法:根据Sry DNA序列设计引物及制备探针,然后进行PCR检测、斑点杂交和原位杂交.动态追踪经不同条件下体外扩增的纯系雄性小鼠BMMNC回输至雌性小鼠后的植入状态。结果:PCR结果显示在各移植组小鼠的骨髓有核细胞、脾细胞及外周血白细胞中均有Y染色体特异性序列的存在;斑点杂交结果显示在各回输组间并无明显差别,但用脾脏组织作原位杂交的结果则发现基质细胞支持扩增回输组的阳性颗粒数目与输注新鲜细胞组相似,但略少于雄性小鼠;而输注细胞因子扩增细胞实验组小鼠则明显少于雄性动物的阳性对照标本和基质细胞支持扩增回输组。结论:(1)经重复检测表明上述方法的重复性好,结果可信.可作为检测性别不同时造血干细胞移植效果的一种检测手段;(2)证实基质细胞支持下的体外扩增的造血细胞具有较好的植入能力。 相似文献
104.
Beeri Rachel; Gnatt Averell; Lapidot-Lifson Yaron; Ginzberg Dalia; Shani Moshe; Soreq Hermona; Zakut Haim 《Human reproduction (Oxford, England)》1994,9(2):284-292
Gene amplification occurs frequently in tumour tissues yet is,in general, non-inheritable. To study the molecular mechanismsconferring this restraint, we created transgenic mice carryinga human butyrylcholinesterase (BCHE) coding sequence, previouslyfound to be amplified in a father and son. Blot hybridizationof tail DNA samples revealed somatic transgene amplificationswith variable restriction patterns and intensities, suggestingthe occurrence of independent amplification events, in 31% (11/35)of mice from the FII generation but in only 3.5% (2/58) of theFII and FIV generations. In contrast, >10-fold amplificationsof the BCHE transgene and the endogenous acetylcholinesteraseand c-raf genes appeared in both testis and epididymis DNA from>80% of FIII mice. Drastic, selective reductions in testisBCHEmRNA but not in actin mRNA were detected by the PCR amplificationof testis cDNA from the transgenic mice, and apparently resultedin the limited transmission of amplified genes. The testicularamplification of the BCHE transgene may potentially representa general phenomenon with clinical implications in human infertility. 相似文献
105.
人抗HBsAg噬菌体抗体Fab段基因的序列分析及表达 总被引:3,自引:0,他引:3
对已建的噬菌体抗体库分离出来的人抗-HBs克隆进行了序列分析和表达研究,发现4个克隆中3个克隆的重链和轻链完全相同,DNA序列分析表明VH分别属于VH1亚群和Ⅱ亚群,其轻链VL分别属于VλⅡ亚群和VλⅠ亚群。构建了可溶性Fab段表达载体,显示出在细菌中表达的Fab段抗体与HBsAg特异性结合,这说明所筛选出来的噬菌体抗体具有HBdisplay status 相似文献
106.
慢性乙型肝炎表面抗原携带者前S1基因的高度异质性 总被引:1,自引:0,他引:1
应用半巢式聚合酶链式反应(PCR)从一例慢性HBsAg携带者血清中扩增出HBV前S1基因,将其克隆于噬菌体M13mp19中进行序列分析。结果发现:与同源性最好的HBVadr野生林相比,所测的10个克隆均有替代和插入突变,9个克隆有缺失突变,10个克隆的核苷酸变异率为5.0%-17.0%,氨基酸的变异率为13.0-60.0%;10个克隆之间的核苷酸变异率为2.3%-24.3%,氨基酸的变异率为14. 相似文献
107.
SM6是我国检测E1Tor霍乱弧菌是否带有溶源性噬菌体的指示菌株。江苏的6株E1Tor霍乱弧菌和SM6都属于噬菌体-生物分型的1d型,而在噬菌体分型中SM6为1/2型,江苏的6株菌株则为1/2/3型;霍乱毒素(CT)基因测定也表明两者的不同,SM6不含CT基因,江苏的6株都含有CT基因,显示噬菌体分型可将噬菌体-生物分型的型别进一步划分,SM6的特性也为霍乱的进一步研究提供了资料。 相似文献
108.
M. Müller R. Heicappell F. Habermann M. Kaufmann U. Steiner K. Miller 《Urological research》1997,25(3):187-192
CD44 is the principal cell surface receptor for hyaluronate. Variant forms of the receptor, produced by alternative splicing, have been found to be associated with tumor progression in a variety of cancers. Based on investigations at the RNA level, it has recently been proposed that expression of CD44 variant V2 was present in urothelial cancer but not in normal urothelium. Since a distinctive marker for urothelial cancer would be extremely useful, frozen sections of normal urothelium and urothelial cancer were examined for expression of standard CD44 and CD44V2. Frozen sections of specimens of 35 patients with transitional cell carcinoma of the bladder, 16 specimens of normal bladder and 5 ureters were examined. Immunohistochemical staining was performed using a polyclonal antibody to CD44V2 (PAB CD44V2), a monoclonal antibody to CD44V2 (MAB CD44V2) and a monoclonal antibody to CD44S (MAB CD44S). CD44V2 and CD44S were also measured in lysates of urine sediments from 21 patients by enzyme-linked immunoabsorbent assay (ELISA). All investigated transitional cell carcinomas expressed CD44V2. There was no differentiation between invasive and noninvasive carcinoma. CD44V2 was also expressed in normal urothelium. Standard CD44 was expressed by the transitional cell carcinoma, normal urothelium, musculature and interstitial tissue. The amount of CD44V2 and CD44S in lysates of urine sediments is not correlated to diagnosis. In contrast to investigations at the RNA level, CD44V2 on the protein level seems not to be a distinctive marker for urothelial cancer. Therefore, CD44V2 will not be a useful diagnostic marker for detection of transitional cell carcinoma. 相似文献
109.
应用对应于Dystrophin基因缺失热区的二对PCR引物和一对内对照无关引物,在同一反应体系中扩增,检测66例DMD/BMD患者。发现其中25例存在17号或49号外显子缺失,与同时采用cDNA探针杂交检测出的35例基因缺失相比.检出率达71.4%。说明该扩增系统能够作为快速筛查缺失型DMD/BMD患者的有效手段。这对指导合理选用探针,尤其在产前诊断方面,具有重要意义。 相似文献
110.
Soluble CD14 but not interleukin-6 is a new marker for clinical activity in atopic dermatitis 总被引:4,自引:0,他引:4
Summary Levels of soluble IL-2 receptors, IL-6, soluble CD23, soluble CD14 and ECP (eosinophilic cationic protein) were measured as markers of T-cell, B-cell, monocyte and eosinophilic leucocyte activation in 26 patients with atopic dermatitis (AD) on admission to (A) and at discharge from (D) the Department of Dermatology in Zurich. The serum levels of sIL-2R, IL-6, sCD23, sCD14 and ECP were significantly elevated in AD patients in comparison with the normal values of healthy donors. A significant decrease in sIL-2R (p=0.0093) and in sCD14 (p=0.0134) levels was demonstrated between A and D, correlating with the improvement in the skin intensity score (SIS). In addition, a significant correlation of the sCD14 levels and the SIS at A was demonstrated (p=0.0415). These results also incriminate monocytes in the pathogenesis of AD, indicating that, besides sIL-2R and ECP, SCD14 could also be a possible marker for the disease activity. 相似文献