Competition between TRAF2 and TRAF6 Regulates NF-κB Activation in Human B Lymphocytes

Objective To investigate the role of TNF receptor-associated factor 2 (TRAF-2) and TRAF6 in CD40-induced nuclear factor-κB (NF-κB) signaling pathway and whether CD40 signaling requires TRAF2. Methods Human B cell lines were transfected with plasmids expressing wild type TRAF2 or dominant negative TRAF2,TRAF2-shRNA,or TRAF6-shRNA. The activation of NF-κB was detected by Western blot,kinase assay,transfactor enzyme-linked immunosorbent assay (ELISA),and fluorescence resonance energy transfer (FRET). Analysis of the role of TRAF-2 and TRAF-6 in CD40-mediated NF-κB activity was examined following stimulation with recombinant CD154. Results TRAF2 induced activity of IκB-kinases (IKKα,IKKi/ε),phosphorylation of IκBα,as well as nuclear translocation and phosphorylation of p65/RelA. In contrast,TRAF6 strongly induced NF-κB activation and nuclear translocation of p65 as well as p50 and c-Rel. Engagement of CD154-induced nuclear translocation of p65 was inhibited by a TRAF6-shRNA,but conversely was enhanced by a TRAF2-shRNA. Examination of direct interactions between CD40 and TRAFs by FRET documented that both TRAF2 and TRAF6 directly interacted with CD40. However,the two TRAFs competed for CD40 binding. Conclusions These results indicate that TRAF2 can signal in human B cells,but it is not essential for CD40-mediated NF-κB activation. Moreover,TRAF2 can compete with TRAF6 for CD40 binding,and thereby limit the capacity of CD40 engagement to induce NF-κB activation.

Human papillomavirus in upper digestive tract tumors from three countries

AIM: To clarify human papillomavirus (HPV) involvement in carcinogenesis of the upper digestive tract of virological and pathological analyses. METHODS: The present study examined the presence of HPV in squamous cell carcinomas of the oral cavity (n = 71), and esophagus (n = 166) collected from Japan, Pakistan and Colombia, with different HPV exposure risk and genetic backgrounds. The viral load and physical status of HPV16 and HPV16-E6 variants were examined. Comparison of p53 and p16INK4a expression in HPV-positive and HPV-negative cases was also made. RESULTS: HPV16 was found in 39 (55%) oral carcinomas (OCs) and 24 (14%) esophageal carcinomas (ECs). This site-specific difference in HPV detection between OCs and ECs was statistically significant (P < 0.001). There was a significant difference in the geographical distribution of HPV16-E6 variants. Multiple infections of different HPV types were found in 13 ECs, but multiple infections were not found in OCs. This difference was statistically significant (P = 0.001). The geometric means (95% confidence interval) of HPV16 viral load in OCs and ECs were 0.06 (0.02-0.18) and 0.12 (0.05-0.27) copies per cell, respectively. The expression of p16INK4a proteins was increased by the presence of HPV in ECs (53% and 33% in HPV-positive and-negative ECs, respectively; P = 0.036), and the high-risk type of the HPV genome was not detected in surrounding normal esophageal mucosa of HPV-positive ECs. CONCLUSION: Based on our results, we cannot deny the possibility of HPV16 involvement in the carcinogenesis of the esophagus.

Anal human papilloma viral infection and squamous cell carcinoma:Need objective biomarkers for risk assessment and surveillance guidelines

High grade anal intraepithelial neoplasia due to human papilloma viral(HPV)infections is a precursor lesion for squamous cell carcinoma especially in high risk populations.Frequent examination and anal biopsies remain unpopular with patients;moreover they are also risk factors for chronic pain,scarring and sphincter injury.There is lack of uniform,surveillance methods and guidelines for anal HPV specifically the intervals between exam and biopsies.The aim of this editorial is to discuss the intervals for surveillance exam and biopsy,based on specific HPV related biomarkers?Currently there are no published randomized controlled trials documenting the effectiveness of anal screening and surveillance programs to reduce the incidence,morbidity and mortality of anal cancers.In contrast,the currently approved screening and surveillance methods available for HPV related cervical cancer includes cytology,HPV DNA test,P16 or combined P16/Ki-67 index and HPV E/6 and E/7 mRNA test.There are very few studies performed to determine the efficacy of these tests in HPV related anal precancerous lesions.The relevance of these biomarkers is discussed in this editorial.Longitudinal prospective research is needed to confirm the effectiveness of these molecular biomarkers that include high risk HPV serotyping,P16 immuno-histiochemistry and E6/E7 mRNA profiling on biopsies to elucidate and establish surveillance guidelines.

Effects of 4-(3-Chloro-Benzyl)-6,7-Dimethoxy-Quinazoline on Kinetics of P120-Catenin and Periplakin in Human Buccal Mucosa Squamous Carcinoma Cell Line

In order to detect molecular markers for the epidermal growth factor inhibitor 4-(3-chloro-benzyl)- 6,7-dimethoxy-quinazoline (tyrphostin), we investigated the kinetics of p120-catenin and periplakin in the human buccal mucosa squamous cancer cell line BICR 10 treated with 3 nM tyrphostin. Growth of BICR 10 cells was inhibited by treatment with tyrphostin. Although changes were not observed in the expression of EGFR and p120-catenin, expression of Akt, Src and periplakin in BICR 10 treated with 3 nM tyrphostin tended to decrease. In addition, phosphorylation of EGFR, Akt and Src was inhibited by treatment with tyrphostin. On immunocytochemical staining, immunoreactions with phosphorylated EGFR, phosphorylated Akt and phosphorylated p120-catenin were weak in BICR 10 treated with tyrphostin. There was a slight immunocy to chemical reaction to periplakin in BICR 10 cells induced by tyrphostin. In conclusion, the decrease in phosphorylation in EGFR and p120-catenin by tyrphostin, following the decrease in Src or Akt phosphorylation, may inhibit expression of several growth factors associated with the proliferation and migration of cancer cells.

Characterization of functional domains of human p100 protein interacting with signal transducer and activator of transcription-6 (STAT-6)

In the present study, the interaction of human p100 protein with signal transducer and activator of transcription-6 (STAT-6) was investigated. It was proved that the staphylococcal nuclease (SN)-like and tudor (TD) domains containing in p100 protein acting as a adaptor to recruit STAT-6 to the basal transcription machinery, enhanced the STAT-6 mediated transcription activity. The interaction between STAT-6 and the p100 protein was mediated by the full-length of the SN-like domain, whereas individual fragments of SN-like domain showed no binding activity to STAT-6. In line with these results, the SN-like domain was directly engaged in the enhancement of STAT-6 mediated activation of gene transcription in vivo. Yet the TD domain had no ability to increase the transcription activation, but it was still required for the sufficient activation of transcription.

Modulatory Effect of Distillate of Ocimum sanctum Leaf Extract (Tulsi) on Human Lymphocytes Against Genotoxicants

Objective To study the modulatory effect of distillate of Ocimum sanctum （traditionally known as Tulsi） leaf extract （DTLE） on genotoxicants. Methods In the present investigation, we studied the antigenotoxic and anticlastogenic effect of distillate of Tulsi leaf extract on （i） human polymorphonuclear leukocytes by evaluating the DNA strand break without metabolic activation against mitomycin C （MMC） and hexavalent chromium （Cr^＋6） and （ii） human peripheral lymphocytes （in vitro） with or without metabolic activation against mitomycin C （MMC）, hexavalent chromium （Cr^＋6） and B[a]P by evaluating chromosomal aberration （CA） and micronucleus assay （MN）. Three different doses of DTLE, 50 μL/mL, 100 μL/mL, and 200 μL/mL were selected on the basis of cytotoxicity assay and used for studying DNA strand break, chromosomal aberration and micronucleus emergence. The following positive controls were used for inducing genotoxicity and clastogenicity MMC （0.29 μmol/L） for DNA strand break, chromosomal aberration and 0.51 μmol/L for micronucleus assay; Potassium dichromate （Cr^＋6） 600 μmol/L for DNA strand break and 5 μmol/L for chromosomal aberration and micronucleus assay; Benzo[a]pyrene （30 μmol/L） for chromosomal aberration and 40 μmol/L for micronucleus assay. The active ingredients present in the distillate of Tulsi leaf extract were identified by HPLC and LC-MS. Results Mitomycin C （MMC） and hexavalent chromium （Cr^＋6） induced statistically significant DNA strand break of respectively 69% and 71% （P〈0.001） as revealed by fluorometric analysis of DNA unwinding. Furthermore, the damage could be protected with DTLE （50 μL/mL, 100 μL/mL, and 200 μL/mL） on simultaneous treatment. Chromosomal aberration and micronucleus formation induced by MMC, Cr^＋6 and B[a]P were significantly protected （P〈0.001） by DTLE with and without metabolic activation. Conclusion Distillate of Tulsi leaf extract possesses antioxidants contributed mainly by eugenol, luteolin and apigenin as identified by LC-MS. These active ingredients may have the protective effect against genotoxicants.

Cloning, tissue expression pattern characterization and chromosome localization of human peptide methionine sulfoxide reductase cDNA

Oxidation and reduction of some amino acids are one of the molecular mechanisms for regulating the function of proteins. The oxidation of methionine (Met) to methionine sulfoxide (Met(O)) results in decreasing or loss of the biological activity of related proteins. It was found that peptide methionine sulfoxide reductase (msrA) can reduce Met(O) to Met and therefore restored the biological function of the oxidized proteins. To reveal the methionine oxidation-reduction mechanism in human body, in this study, the cDNA sequence of bovine msrA was used as an information-probe to screen the human EST database. Based on a contig assembled from homologous ESTs, a 1 256-bp human MSRA cDNA was cloned from several human cDNA libraries. The cDNA contains an open reading frame (ORF) of 705 bp in length, which encodes 235 amino acid residues. Homology comparison revealed that human MSRA shares 88% and 61% identities with bovine and Escherichia coli msrA protein respectively. Expression pattern analysis revealed a

PTEN与P-AKT在胃癌中的表达及意义

目的:检测人第10号染色体缺失的磷酸酶及张力蛋白同源基因(PTEN)与磷酸化丝氨酸/苏氨酸蛋白激酶B(P-AKT)在胃癌和癌旁组织中的表达,探讨它们在胃癌发生、发展中的作用。方法:应用免疫组织化学EliVision法,检测68例胃癌及其癌旁组织中PTEN和P-AKT蛋白表达水平,同时对68例胃癌和癌旁组织采用反转录-聚合酶链反应检测其中PTEN mRNA的表达。结果:PTEN蛋白在胃癌组织中表达低于癌旁组织(P<0.01),P-AKT蛋白在胃癌组织中表达高于癌旁组织(P<0.01),两者呈负相关关系(P<0.05)。胃癌组织中PTEN蛋白的表达在性别和年龄间差异均无统计学意义(P>0.05),但在分化程度、肿瘤大小、临床分期和淋巴结转移表达差异均有统计意义(P<0.01)。胃癌组织中P-AKT蛋白表达在性别、年龄和肿瘤大小间差异均无统计学意义(P>0.05),但在分化程度、临床分期和淋巴结转移间表达差异均有统计学意义(P<0.05)。胃癌组织PTEN mRNA的半定量表达明显低于癌旁组织PTEN mRNA的半定量表达(P<0.01)。结论:PTEN基因在胃癌组织中低表达,癌旁组织蛋白表达也明显高于胃癌组织,P-AKT蛋白在胃癌组织中的表达高于癌旁组织,两者在胃癌中的表达呈负相关。

Cloning and characterization of a novel gene (C17orf25) from the deletion region on chromosome 17p13.3 in hepatocelular carcinoma

Using a combination of hybridization of PAC to a cDNA library and RACE technique, we isolated a novel cDNA, designated as C17orf25 (Chromosome 17 open rea(ling frame 25, previously named it HC71A), from the deletion region on chromosome 17p13.3. The cDNA encodes a protein of 313 amino acids with a calculated molecular mass of 34.8 kDa. C17orf25 is divided into 10 exons and 9 introns, spanning 23 kb of genomic DNA. Northern blot analysis showed that the mRNA expression of C17orf25 was decreased in hepatocellular carcinoma samples as compared to adjacent noncancerous liver tissues from the same patients. The transfection of C17or25 into the hepatocellular carcinoma cell SMMC7721 and overexpression could inhibit the cell growth. The above results indicate that C17orf25 is a novel human gene, and the cloning and preliminary characterization of C17orf25 is a prerequisite for further functional analysis of this novel gene in human hepatocellular carcinoma.

An unusual enteropathy-associated T-cell lymphoma with MYC translocation arising in a Japanese patient:A case report

Enteropathy-associated T-cell lymphoma （EATL） is a rare peripheral T-cell lymphoma classified into 2 types, with or without celiac disease, based on histology. Type 2 EATL is less commonly associated with celiac disease, in which cells are characterized by being monomorphic and small- to medium-sized. Cells are characterized by CD8 and CD56 expression and c-MYC oncogene locus gain. We present an atypical case of type 2 EATL in the jejunum, with human T-lymphotropic virus-1 that was CD4- CDS＋ CD56- CD30- CD25- TIA-I＋ and granzyme B＋ on immunohistological staining. It also displayed translocation of chromosome 8p24 （c-MYC）, as de- termined by fluorescent/n situ hybridization. Mucosalspreading and intraepithelial invasion by lymphoma with villous atrophy were detected adjacent to the mucosal layer. The lymphoma may be derived from in- traepithelial CD8＋ T cells, similar to celiac disease.

HPV16/18E_6和P_(53)基因蛋白在喉鳞癌中的表达及其相关性研究

目的 探讨人乳头瘤病毒16 / 18型早期蛋白E6 (HPV16 / 18E6 )、P53基因蛋白在喉鳞癌(L SCC)中的表达及其相关性。方法 免疫组化SABC法检测HPV16 / 18E6 和P53基因蛋白在L SCC及声带息肉中的表达。结果 HPV16 / 18E6 在声带息肉中未见表达,在L SCC中的表达率为4 0 .0 % ,差异有显著性(P <0 .0 5 )。P53基因蛋白在声带息肉与L SCC中的表达率分别为6 .6 6 %和6 6 .2 % ,差异有显著性(P <0 .0 5 )。HPV16 / 18E6 及P53基因蛋白的表达与L SCC临床分期、淋巴结转移有关。二者的表达无明显相关性。结论 HPV 16 / 18型感染和P53基因异常与L SCC发生、发展有关。HPV16 / 18E6 与P53基因功能异常无明显相关性。

鳖甲煎丸含药大鼠血清对人肝癌HEPG2细胞Mg^(2+)-ATP酶、G-6-P酶活性影响的实验研究

[目的]研究鳖甲煎丸含药大鼠血清对人肝癌HEPG2细胞Mg^(2+)-ATP酶、G-6-P酶活性的影响。[方法]将实验大鼠随机分为4组:空白对照组、鳖甲煎丸煎剂组、顺铂组、鳖甲煎丸联合顺铂用药组。待人肝癌HEPG2细胞贴壁生长状态良好,加入含药大鼠血清及对照组大鼠血清,培养后取材制作标本。利用Mg^(2+)-ATP酶、G-6-P酶细胞化学染色方法对标本进行染色。运用光镜观察酶反应。[结果]光镜下,鳖甲煎丸煎剂组、顺铂组、鳖甲煎丸联合顺铂用药组Mg^(2+)-ATP酶、G-6-P酶活性减弱,与空白对照组相比较有明显差异,差别有统计学意义(P<0.05)。[结论]鳖甲煎丸含药大鼠血清对人肝癌HEPG2细胞Mg^(2+)-ATP酶、G-6-P酶活性的影响有减弱作用。

中国一先天性无虹膜家系的遗传分析及PAX6基因突变位点的检测

背景先天性无虹膜是双眼发病的遗传性疾病，目前的研究表明先天性无虹膜患者配对盒转录因子6（PAX6）基因突变位点具有多样性。目的通过目标序列捕获测序结合一代测序验证技术对1个中国先天性无虹膜家系进行基因突变位点的筛查和遗传分析。方法采用横断面研究方法，本研究组于2016年3月纳入在郑州大学第一附属医院确诊的1个中国汉族先天性无虹膜家系，并对该家系成员进行致病突变基因检测。该家系全体成员均接受神经系统、口服葡萄糖耐量试验等全身体格检查以及眼科相关检查。采集现存家系所有成员前臂静脉血10ml以提取基因组DNA，以先证者基因组DNA为模板行前房角发育异常致病基因的目标基因定点捕获测序分析，经与各基因库比对筛选出候选致病基因位点，采用PCR法对该家系成员行致病基因位点DNA片段扩增，采用Sanger测序技术在该家系除先证者以外的2例患病者和表型正常成员中进行候选致病基因验证。结果该家系共3代9名成员，I1去世，现存8位成员，包括患病者3例（112及其子代Ⅲ1、Ⅲ2）和表型正常者5人，符合常染色体显性遗传模式。所有家系成员未发现神经系统异常，口服葡萄糖耐量试验结果均呈阴性。3例患病者视力均明显下降且不能矫正，眼压平均值为21mmHg（1mmHg=0．133kPa），患者均存在虹膜完全缺如、角膜基质层混浊、眼球水平震颤、黄斑中心凹发育不良症状。此外，Ⅱ2患者存在左眼上睑下垂、右眼先天性白内障表现，Ⅲ2同时存在双眼先天性白内障、双侧晶状体不全脱位。先证者目标序列捕获测序分析及数据库比对显示，所有患病者PAX6基因第6号外显子上碱基替换e．183C〉A，经Sanger测序验证后证实突变基因与表型共分离。结论PAX6基因c．183C〉A突变是该先天性无虹膜家系的致病突变位点。

龙胆泻肝汤治疗慢性肛隐窝炎的临床疗效及对血清IL-6、MCP-1与SP、5-HT、CCK的影响

目的探讨龙胆泻肝汤治疗慢性肛隐窝炎的临床疗效及对血清IL-6、MCP-1与SP、5-HT、CCK的影响。方法选择2018年5月—2019年7月肛肠科就诊的慢性肛隐窝炎患者120例,随机分配为A组和B组各60例,A组采用常规药物保留灌肠治疗,B组在A组治疗基础上予以龙胆泻肝汤治疗,对比两组治疗前后生活质量评分及治疗后复发情况、临床疗效。结果 B组患者社会功能、躯体功能、饮食及心理健康评分均优于A组,B组复发率低于A组(χ^2=4.230,P=0.040),差异具有统计学意义;B组治疗后有效率明显高于A组(χ^2=4.180,P=0.041),差异具有统计学意义;治疗后,两组患者血清白介素-6(IL-6)、P物质(SP)、人单核细胞趋化蛋白-1(MCP-1)、5-羟色胺(5-HT)、血清胆囊收缩素(CCK)表达水平均较本组治疗前下降,且B组低于A组(P<0.05),差异均具有统计学意义;B组不良反应发生率高于A组(χ^2=0.540,P=0.464),但差异无统计学意义。结论龙胆泻肝汤可提高慢性肛隐窝炎患者治疗效果,降低血清IL-6、MCP-1、SP、5-HT、CCK表达水平。

同胞精神分裂症患者与染色体D6S274和D6S296位点的关联分析

目的 探讨精神分裂症与6号染色体上基因位点多态性之间的关系。方法 选取南京市及其周边地区共患慢性精神分裂症的同胞60对(120例)及散发性精神分裂症120例,分别与正常同胞60对(120名)及120名正常人进行对照。采用聚合酶链反应限制性片段长度多态性技术,观察其D6S274和D6S296位点多态性的分布。结果 精神分裂症患者和正常人D6S274和D6S296位点上等位基因频率的分布均符合Hardy Weinberg平衡。共患慢性精神分裂症同胞组D6S296的264bp和278bp等位基因频率分别为20 83%和21 67%,高于正常同胞组(分别为7 08%和14 17% ),差异均有统计学意义(χ2 =18 84和4 59,P<0 01和P<0 05);其他各等位基因频率的分布在各组之间的差异无统计学意义。结论 慢性精神分裂症可能与人类6号染色体上D6S296位点关联。

精神分裂症患者染色体D6S296等微卫星标志的多态性分析

目的 探讨人类第 6号染色体上与精神分裂症有关的易感基因位点。方法 研究对象为上海地区 1 78例精神分裂症患者 (其中 82例为病程在 1 0年以上的慢性精神分裂症患者 ) ,以 88名健康人为正常对照。应用扩增片段长度多态性技术 (AFLP) ,观察D6S470、D6S2 74、D6S2 96和D9S1 75等 4个微卫星标志多态性的分布。结果 精神分裂症患者和健康人D6S470、D6S2 74、D6S2 96和D9S1 75微卫星标志上各等位基因频率的分布均符合Hardy Weinberg平衡。慢性精神分裂症组患者D6S2 96的 2 64bp等位基因频率为 0 .1 688,而健康人组为 0 .0 390 ,差异有非常显著意义 (χ2 =1 7.68,P<0 .0 0 1 ) ;其他微卫星标志的各等位基因频率分布在各组之间的差异无显著意义。D6S2 96的 2 64bp等位基因与慢性精神分裂症间存在强烈关联 (RR =8.30 ,χ2 =1 3 .91 ,υ=1 ,P <0 .0 0 1 )。结论 人类 6号染色体上D6S2

弥漫性大B细胞淋巴瘤3q27染色体状态和不同亚型与预后的关系

目的从蛋白和基因水平研究弥漫性大B细胞淋巴瘤（DLBCL）的3q27染色体状态和不同亚型与预后的关系。方法应用免疫组织化学EnVision法对有随访资料的73例DLBCL进行CD3、CD10、CD20、bcl-6、MUM-1标记，根据Hans的分类方法分为生发中心B细胞型（GCB型）和非生发中心B细胞型（non-GCB型），其中54例应用荧光原位杂交（FISH）技术检测bcl-6基因所在的3q27染色体的断裂和扩增情况。结果73例DLBCL患者GCB型16例（21．9％），non-GCB型57例（78．1％）。54例DLBCL患者中3q27染色体断裂11例（20．4％），扩增14例（25．9％）。5年总体生存率GCB型（78％）高于non-GCB型（40％），差异有统计学意义（P=0．011）。bcl-6阳性表达较阴性者预后好（P=0．041）；3q27断裂阳性组病例总体生存率低于3q27断裂阴性组。结论DLBCL的GCB型比non-GCB型预后好。bcl-6蛋白表达有助于DLBCL的预后判断，3q27染色体断裂阳性病例总体生存率低于3q27断裂阴性组。目前仍有必要区分DLBCL的B细胞的起源。

二例环6号染色体综合征病例染色体缺失片段及其与临床表型的关系

目的探讨环6号染色体综合征病例染色体缺失片段和定位于其中的基因与临床表型的关系。方法2013年就诊于北京大学第一医院的2例环6号染色体综合征病例纳入研究。其中病例1孕妇妊娠21^＋1周，因妊娠中期血清学唐氏综合征筛查高风险而行产前诊断，胎儿染色体核型分析结果为46，xY,r（6）[14]／46，XY,r（6；6）[1]／45，XY’-6[15]。病例2为8月龄女性婴儿，发育落后，面部畸形，染色体核型为46，XX，r（6）／47，XX，r（6）×2／46，XX，r（6；6）／45，XX，一6。应用多重连接探针扩增及比较基因组杂交技术检测2例病例6号染色体短臂和长臂末端亚端粒区的缺失情况及基因缺失片段位置及大小，复习相关文献。结果多重连接探针扩增技术确定2例均存在6号染色体短臂和长臂末端亚端粒区缺失。比较基因组杂交技术分析发现：病例1胎儿的6号染色体短臂末端6p25．3～25．2区缺失2．42Mb，主要包含已知的DUSP22、IRF4、EXOC2、FOXC1、FOXF2及FOXQ等基因；长臂末端6q26～27区缺失7．84Mb，主要包含已知的PARK2、PACRG、LOC28596和RPS6KA2等基因。病例2患儿6号染色体短臂末端6p25．3～25．1区缺失5．44Mb，主要包含已知的DUSP22、IRF4、EXOC2、FOXC1、FOXF2、FOXQ及SERPINB6等基因；长臂末端6q27缺失0．16Mb，主要包含PSMB1、TBP及PDCD2等基因。2个病例除表现出“环状染色体综合征”共同特点之生长发育落后外，病例1还合并小脑偏小，病例2合并小头畸形和双眼内斜。结论环6号染色体综合征患者临床特征的差异与染色体区带缺失部位和缺失大小密切相关。

6号染色体上可能存在银屑病易感基因

目的研究中国人寻常型银屑病与6p21.3区域内的六个微卫星标记和4q上的两个微卫星标记是否连锁,以寻找银屑病易感基因位点。方法利用选取的微卫星位点作为标记,采用微卫星荧光标记-基因扫描及分型技术,选取205例经确诊并符合寻常型银屑病诊断标准的患者,对其中14个银屑病家系进行连锁分析。结果在研究的家系中未发现4q上的微卫星标记与银屑病易感基因之间的连锁,而在染色体6p21.3区域存在着与之有连锁关系的微卫星标记位点(在D6S273位点上两点分析最大LOD值为1.26)。结论本研究表明在中国人银屑病患者中,染色体6p21.3区域可能存在银屑病易感基因。

前列腺癌及前列腺上皮内瘤6号染色体等位基因杂合子丢失分析

目的 检测原发性前列腺癌及高级别前列腺上皮内瘤 (PIN) 6号染色体等位基因杂合子丢失 (LOH)及其意义。方法 经显微切割技术获取前列腺癌及PIN各 10例患者DNA ,采用聚合酶链反应 (PCR)及微卫星多态性技术 ,对 6号染色体上的 2 0个微卫星标志位点LOH进行检测。结果 10例原发性前列腺癌中有 8例在 6号染色体上至少有 1个位点检测到LOH ,6q2 1 6q2 3及 6q2 5 6q2 7为2个高频LOH区。 10例高级别PIN检测 6号染色体 2 0个位点 ,有 5例各有 1个位点检测到LOH。结论 前列腺癌中存在 6号染色体的高频LOH区 ,分别位于 6q2 1 6q2 3、6q2 5 6q2 7区 ,编码细胞周期素C及胰岛素样生长因子Ⅱ受体的基因为此 2区候选的抑癌基因 ,它们可能与前列腺癌的发生发展有关。