【目的】为建立一种简便、实用的DYF155S1位点多态性分析技术提供依据。【方法】采用扩增片段长度多态性(Amp-FLP)方法，调查中国汉族人群155个无关男性个体DYFl55sl位点长度的变异情况。PCR扩增产物用非变性聚丙烯酰胺凝胶电泳，银染显示条带。用循环测序法对该位点的10个等位基因进行正向和反向序列分析。【结果】以基因组DNA为模板，用一对引物可同时扩增出DYF155s1和DYF155S22个位点的等位基因。DYF155s1位点表现出有长度多态性，这些等位基因约1500～2500bp。DYF155S2位点表现出有或缺失的二态现象，缺失率约为7.1%。发现有4种变异的核心序列，其中3种与文献报道一致，被命名为1型、3型和4型，另一种为新发现的变异核心序列，暂命名为7型。10个等位基因具有相同的模块结构，在5´端表现为3型-1型-3型排列，在3´端则表现为4型-3型排列。【结论】中国汉族人群DYF155S1位点5´端序列较3´端的多态性高。

目的：探讨融合自杀基因pCEAcd-tk/前药体系的旁观者效应的机理。方法：质粒pCEAcd-tk提取后，脂质体介导的方法转染到SPCA-1细胞中，与未转染的SPCA-1细胞混合(2∶8)后接种到96孔培养板中(每孔3×103)，加前体药物5-氟胞嘧啶[5-Fluorocytesine，5-FC(5μmol/L)]和[丙氧鸟苷(Ganciclovir,GCV(10μmol/L)]，培养5天,MTT法测定细胞存活率而观察旁观者效应。利用细胞种植密度的稀密和取转导了pCEAcd-tk融合基因的SPCA-1细胞(处理细胞)加前体药物的培养液和细胞裂解液对未转染细胞SPCA-1的毒性探讨旁观者效应的传递方式。结果：融合基因pCEAcd-tk/前药体系的旁观者效应在细胞密度较低时更明显，处理细胞的细胞培养液具有细胞毒性。结论：融合自杀基因pCEAcd-tk/前药体系的旁观者效应的传递方式之一是通过细胞之间的某些介质传递。

ABO系统是人类发现最早的血型系统,其血清学分型简便、稳定、可靠,一般ABH抗原检测结果都符合孟德尔遗传 规律,因此ABO血型系统是亲权鉴定中使用得最早、最多、最经典的多态性遗传标记[1]。本文报道一例ABO血清学分型结果与孟德尔遗传规律矛盾、但DNA多态性分析结果却不排除亲权关系的亲子鉴定案例。

To enhance the specific cytotoxic effects caused by the transfer of the E. coli cytosine deamlnase (cd) and lISVl-tk to CEA (carcinoembryonic antigen)-produeing cells, the expression of the ed-tk fusion gene, driven by the CEA promoter, was investigated followed by treatment with 5-FC and GCV in combination with radiation. The expression vector pCEAcd-tk, based on pcDNA3, was introduced into CEA-produeing cells using liposomes. In CEA-producing cells, the CEA promoter could efficiently drive the expression of the fusion suicide gene. The expression activity of the E. colcoli ed gene driven by the CEA promoter was about tbree times higher than that driven by the CMVCMV promoter in transfeeted LoVo cells. A combination of 5-FC and GCV could cause higher cytotoxicity to the cells expressing CD and TK than the use of a single prodrug alone. The cytotoxic effect after combining the two prodrugs with radiation was the highest among all treatments in vitro. In vivo, the result of a subrenal capsule assay showed that tile inhibition rates for 5-FC (0.5mg/g) and GCV (0.1rag/g) to GLC-82 cells transfected witb pCEAcd-tk were 18.04% and 55.00%, respectively. A combination of the prodrugs at the same dose resulted in a 152.50% inhibition rate. In addition, the bystander effect exerted by the pCEAcd-tk/5-FC+GCV system in vilro was greater than that induced by cd/5-FC or tk/GCV alone.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a cotton X-linked hereditary enzymopathy. We describe here the techniques based on matrix-assisted later desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) and multiprimer extension (multi-PEX) to detect the most commnon Chinese G6PD mutations, which are the single-point mutations G-T at nt 1376, G-A at nt 1388, A-G at nt 95 G-T at nt 392. C-T at nt 1024, and C-T al nt 1311 Fifteen samples were genotyped using this method coupled with direct sequencing, after identification of G6PD mutations by ARMS. In this study, we identified a mutation G-Tat nt 1376, which had been G-A at nt 1388 using ARMS, while the result of seqnencthg corresponds with ours This indicates the reliability of this method. Furthermore. since it can scan six common Chinese G6PD mutations simultaneously in one mass spectrum, this approach could be used to fast diagnose these G6PD mutafions accurately in large-scale analysis.