Objective: To investigate the relationship between vascular endothelial growth factor(VEGF) polymorphisms and psoriasis in north of China.Methods: DNA genotyping was performed on peripheral blood leukocytes in 246 patients of psoriasis and 271 controls.One common polymorphism(2578) of VEGF gene was analyzed by PCR-RFLP.Results: In patients,the allele frequencies of the 2578 were as follows: C,74.80%;T,25.20%.In controls,the allele frequencies of 2578 were 76.59% and 23.41%,no significant difference of the genotype frequencies and allele frequencies in the polymorphic site was observed between the two groups.Conclusion: VEGF gene-2578 C/A polymorphism was probably not associated with the psoriasis susceptibility.
Macrophage migration inhibitory factor(MIF),which is a cytokine of many biological activities,plays a key role in the immunoregulatory system.The MIF levels produced in vivo directly influence susceptibility and severity of some diseaseg.Polymorphisms exist in the promoter region of the MIF that alters its expression.In this review,we discuss the biological role of MIF,and summarize the recent findings describing the MIF promoter polymorphisms as well as its correlation with the susceptibility and severity of diseases.
A mutant allele of the chemokine receptor gene CCR5 bearing a 32-basepair deletion (delta 32CCR5) could increase the resistance to HIV-1 infection or delayed progression to AIDS. The frequency of this mutation is higher in Europeans than in Asians. To investigate the distribution of this polymorphism in China, 715 individuals from 11 Chinese populations were screened by PCR, including the Han and 10 other ethnic groups. The delta 32CCR5 gene was found in 16 individuals from 5 ethnic groups. All of them were heterozygous. The frequency of the mutant alleles of delta 32CCR5 is low in China and reflects (or might reflect) ancestral gene flow from Europe to Chinese ethnic groups and recent intermarriage within the ethnic groups.
目的探讨6号染色体长臂上8个肿瘤候选基因与非小细胞肺癌发生发展的关系.方法应用多重PCR对41例非小细胞肺癌中6号染色体长臂上的8个肿瘤候选基因的20个微卫星位点进行扩增.PCR产物应用聚丙烯酰胺凝胶电泳分离,电泳结果用Gene ScanTM,GenotyperTM软件进行分析.结果有7个基因的14个微卫星位点杂合性缺失频率超过20%.分别是CCNC(M74091,34.5%;stSG41342,100%),FYN(stSG29818,22.2%;GDB:187104,38.5%),IGF2R (stSG1519,21.1%;stSG6298,80%),MLLT4 (N26539,25.7%;sts-AA010818, 38.7%),NMBR(stSG6334,50%), PDCD2 (SGC31353, 27.60%;sts-N37094,50%),THBS2(stSG6890,25%;AA131691,29.60%;stSG35838,44.40%).结论这7个肿瘤候选基因可能与非小细胞肺癌发生、发展有关.
Fourteen YSNPs loci and YAP locus were genotyped in 80 healthy male samples in Fujian Han population in China. YAP Locus and eleven loci of YSNPs displayed different variations ,including M9、M50、M110、M15、M134、M122、M95、M89、M119、M111、M88, while the other 3 YSNPs loci displayed no variation, including M7、M45、M103. In all the individuals studied for the fourteen YSNPs loci and YAP locus , seven Y haplotypes were obtained , including H1、H3、H4、H5、H6、H8、H9. These haplotype frequencies are 22.5%、1.3%、1.3%、1.3%、30.0%、28.8% and 15.0% respectively.The genetic characters of Fujian Han population belong to typical south Chinese populations and it has some characters of north population. We obtain some genetic evidences of Fujian Han population in this research.
肿瘤的染色体改变对其行为有重要影响,这不仅表现在恶性肿瘤的分型、预后上,对阐明肿瘤的发生机理也有重要作用.直至90年代,占全部肿瘤5%的血液和淋巴系统肿瘤的染色体研究资料已占全部肿瘤的90%,相反,占全部肿瘤80%的实体瘤,其染色体研究资料,仅占全部肿瘤的10%,而这些资料又大部分来源于对实体瘤细胞系的研究,原发性实体瘤的资料仅占全部肿瘤染色体研究资料的1%.
目的检测胃癌患者19号染色体微卫星位点的杂合性缺失(less of heterozygosity, LOH),以初步确定19号染色体上与胃癌相关基因连锁最密切的微卫星多态位点.方法应用多重PCR对44例原发性胃癌患者中覆盖19号染色体上的22个微卫星位点(遗传距离在1.1~10.9 cM之间)进行扩增.聚丙烯酰胺凝胶电泳分离PCR产物,Gene ScanTM,GenotypeTM软件进行分析.结果 19个位点(19/22)检测出LOH阳性,总LOH频率为59%(26/44),其中D19S571位点的LOH频率最高(21.43%).结论高频的LOH位点附近,可能存在未知的胃癌相关基因.
In order to investigate the suppression effect of tumor suppressor genes in lung adenocarcinoma, we trans- fected P21 expression vector into a pair of lung adenocarcinoma cell lines with different metastasis potential:A-nip973 (high metastasis potential) and AGZY83--a (low metastasis potential). The suppression effects of p21 were evaluated by cell growth curve, cloning efficiency assay, flow cytometric analysis and Tunel technique. We found that increased expression of p21 in both cell lines was associated with significant lengthening of G1 phase, decreased proliferation potential and decreased cloning efficiency. No apoptosis was found in the cell lines with overexpressed P21 gene. The results showed that increased expression of P21 gene suppressed the lung adenocarci-noma cells by G1 arrest and P21 gene proved a candidat egene in lung adenocarcinoma gene therapy.
本文采用EBV(Epstein Barr Virus)上清液转化B淋巴细胞,并加入环胞霉素A(Cyclosporine A)抑制T淋巴细胞,成功地对中国东北地区鄂温克族、鄂伦春族及达斡尔族的部分个体建立了永生细胞系,其中鄂温克族49株,鄂伦春族40株,达斡尔族51株,总计140株.永久保存我国特有民族的基因组,为分析其遗传学差异奠定了基础.
目的 探讨p16 基因在非小细胞肺癌发生发展过程中所起作用。方法 应用 P C R 与双链 D N A 直接测序技术对40 例非小细胞肺癌中p16 基因外显子2 的纯合缺失与序列改变进行了研究。结果40 例非小细胞肺癌中有2 例存在p16 基因外显子2 的纯合缺失;14 例肿瘤 D N A 样品中检出p16 基因外显子2 的19 个点突变和1 个移码突变。其中8 个突变位于121 位密码子中380 位碱基处。结论 p16 基因点突变在非小细胞肺癌中发生频率较高,是参与非小细胞肺癌发生发展的主要突变形式。非小细胞肺癌中p16 基因的突变热点为121 位密码子中380 位碱基的转换与颠换。