Telethonin与MSTN在进行性肌营养不良患者肌肉中的表达

目的Telethon in是一种重要的肌节蛋白,肌肉抑制素(myostatin,MSTN)是骨骼肌生长发育抑制因子,本文主要目的是探讨Telethon in和MSTN基因与进行性肌营养不良病理发生的相关性。方法采用W estern b lot方法分析肌营养不良患者中Telethon in和MSTN蛋白的表达水平;为进一步分析Telethon in蛋白对肌营养不良病理发生的作用,构建了Telethon in的反义表达载体,转染肌原性细胞系C2C12,研究阻断Telethon in基因表达(Knockdown)对成肌细胞增殖分化的影响。结果发现在一些肌营养不良患者中Telethon in蛋白表达缺失,而在这些患者的肌肉组织中MSTN蛋白表达正常但存在加工障碍;此结果提示,Telethon in蛋白可能参与MSTN蛋白的加工成熟过程。采用反义技术阻断Telethon in基因表达后,C2C12细胞增殖受到明显抑制。结论Telethon in和MSTN可能与一些类型肌营养不良的病理发生密切相关。     

DEAD box1基因与相关肿瘤的研究进展

DEAD box基因,DEAD box 1(DDX1),位于染色体2p24,过表达于视网膜母细胞瘤(retinoblastoma,RB)中,并与MYCN基因共同扩增在神经母细胞瘤(neuroblastoma,NB)和原发性肿瘤的细胞系中.最近研究发现在鼠的子宫内膜癌细胞中DDX1基因与MYCN基因共同扩增.经研究发现在多数生物体中都存在DEAD box蛋白.正如我们所意料,DDX1存在解旋酶区域,在体外DDX1蛋白表现有ATP酶和解旋酶的活性.目前,DDX1确切的功能和在肿瘤中的作用还在进一步的研究当中.现将DEAD box蛋白家族和DEAD box 1基因与肿瘤的关系进行综述.

Abstract：

DEAD box gene, DEAD box 1 ( DDX1 ) ,a gene mapping to the 2p24 region, was identified to be overexpressed in retinoblastoma and co-amplified with MYCN in neuroblastoma cell lines as well as in primary tumor specimens. DEAD box proteins are found in most organisms. As expected from the presence of the helicase domain, DDX 1 shows in vitro ATPase and RNA helicase activities. The exact function of DDX 1 and its role in the pathogenesis of cancer are still under investigation. Here, we review the DEAD box proteins family and the relationships with between DEAD box1 gene and tumor.     

先天性厚甲症Ⅱ型一家系KRT17基因突变研究

目的 研究1个先天性厚甲症Ⅱ型家系的基因突变情况.方法 收集该家系的详细临床资料,外周血提取基因组DNA,PCR扩增KRT17热点突变区,通过PCR扩增产物直接测序方法对该家系患者、正常成员和100名无亲缘关系的正常人进行KRT17基因突变检测.结果 在该家系患者KRT17基因的第1外显子上发现了1个错义突变(296 T→C),导致KRT17的1A区亮氨酸由脯氨酸替代(L99P),而家系中正常成员和家系外100名正常对照中均未能发现该突变.结论 该家系患者的临床表现为KRT17发生突变(L99P)所致,结合文献复习证实部分PC-Ⅱ家系基因型与表现型之间存在一定相关性.

Abstract：

Objective To investigate the keratin 17 gene (KRT17)mutation in a pedigree with pachyonychia congenita type 2 (PC-Ⅱ ). Methods DNA was extracted from the blood samples of the patients, unaffected members of the pedigree, and 100 unrelated healthy controls. PCR was performed to amplify the hot spots in KRT17 gene. PCR products were directly sequenced to detect mutation. Results A heterozygous 296T--C mutation was found in all the affected members of this family, which resulted in the substitution of leucine by proline in codon 99 (L99P) in the 1A domain of the KRT17, but not in the healthy individuals from the family and the 100 unrelated controls. Conclusion The mutation of KRT17 may play a major role in the pathogenesis of this pedigree with pachyonychia congenita type 2.     

p16、DAPK和RARβ基因启动子CpG岛甲基化与非小细胞肺癌临床特征的关系

目的 研究非小细胞肺癌(non-smal celllung cancer,NSCLC)患者p16、DAPK和RARβ启动子区CpG岛甲基化对临床特征的影响,探讨其与吸烟的关系.方法 应用甲基化特异性PCR检测200例原发性NSCLC组织和相应正常组织中p16,DAPK和RARβ基因启动子区CpG岛甲基化状况.结果 p16、DAPK和RARβ基因甲基化在癌组织中的检出率分别为51.0%、60.0%和58.0%,均高于其在正常组织中的检出率(分别为12.5%,11.5%和15.0%;P＜0.05).非条件Logistic回归显示,癌组织p16基因甲基化与年龄和病例组织类型有关(P＜0.05);癌组织DAPK基因甲基化与年龄、性别、临床分类有关(P＜0.05);而癌组织RARβ基因甲基化与临床分类和TNM(tumor node metastasis)分期相关(P＜0.05).癌组织p16基因甲基化与DAPK基因甲基化之间存在交互作用(OR=1.987,95%CI:1.055～3.743).吸烟者癌组织p16和DAPK基因甲基化的OR值分别为3.139(95%CI:1.046～9.419)和3.585(95%CI:1.270～10.123),未发现癌组织RARβ基因甲基化与吸烟有关.结论 p16,DAPK和RARβ甲基化与NSCIC患者临床特征关系密切.吸烟与p16和DAPK基因甲基化有关.

Abstract：

Objective To investigate the effects of promoter methylation of p16 , death-associated protein kinase (DAPK) and retinoic acid receptor-β (RARβ) genes on clinical data in non-small cell lung cancers, and to study the effect of smoking on the risk of gene methylation. Methods The promoter methylation of p16 , DAPK and RARβ genes in 200 primary non-small cell lung cancers and the corresponding nonmalignant lung tissues were determined by methylation-specific PCR. Results Methylation in the tumor tissues was detected in 51.0% for p16 , 60.0% for DAPK, and 58. 0% for RARβ gene, with significant differences (P ＜ 0. 05) when compared with those in the corresponding nonmalignant tissues (12. 5%,11.5% and 15.0%) respectively. p16 gene methylation in tumor tissue was associated with age significantly in unconditional logistic regression analysis (P＜0.01) and histologic type (P＜0. 05). DAPK gene methylation in tumor tissue was associated significantly with age (P＜0. 05), gender (P＜0.05) and clinical type (P＜ 0.05 ). RARβ gene methylation in tumor tissue was associated with clinical type (P＜0. 05) and tumor stage (P＜0. 05) significantly. The interaction odds ratio (OR) for the gene-gene interaction in tumor tissue between p16 and DAPK was 1. 987 (95%CI: 1. 055-3. 743). The results of the gene-smoking analyses revealed that a relationship existed between cigarette smoking and p16 gene methylation (OR= 3. 139, 95 % CI: 1. 046-9. 419), the OR for the relationship of DAPK gene methylation and cigarette smoking was 3. 585(95%CI: 1. 270-10. 123)in tumor tissue. The RARβ gene methylation did not differ based on the smoking status of patients in tumor tissue. Conclusion Thep16 , DAPK and RARβ genes methylation are strongly associated with clinical data of non-small cell lung cancer, and methylation of p16 and DAPK genes are associated with tobacco smoking.     

肿瘤标志物测定胃癌的诊断与随访价值（文献综述）

肿瘤标志物(Tumor markers, TM)是表示肿瘤存在并反映其一定的生物特性的生化物质。从临床角度出发,主要指那些在血液、体液及组织中可检测到的与肿瘤相关的物质。早在1846年,Bence-Jones首先从尿中发现了可检测多发性骨髓瘤的特异性蛋白(一种免疫球蛋白的轻链)。到二十世纪初,学者们又先后提出了与肿瘤有关的异位激素促肾上腺皮质激素(ACTH)、绒毛膜促性腺激素(HCG)等。随后,在1933年和1959年陆续发现了与前列腺肿瘤有关的前列腺酸性磷酸酶(PAP)及组织分化同功酶等。以上这些成果可视为TM研究的第一阶段。1963年苏联学者Abelev发现了原发性肝癌的标志物甲胎蛋白(AFP),1965年加拿大学者Gold和Freedman又发现了另一个重要的直肠癌标志物癌胚抗原(CEA),AFP和CEA的发现是TM研究的第二阶段。此后,TM的概念才与肿瘤细胞的“分泌     

凝集素的双功能性质:凝集素新定义

1888年,Hermann Stillmark从蓖麻抽提物中发现一个血球凝集素(他称之为蓖麻毒蛋白,ri(?)in)。从那时起,已从动物和植物中分得了大量的糖结合蛋白,并在多方面作了研究。出于对这一领域的持续的兴趣,人们召开了一些会议并出版刊物庆祝凝集素研究100周年(见另文)。在这些场合里,人们一致认为,尽管凝集素作为试剂广泛地应用于生物学研究,但是对其内源性     

血管内皮细胞功能相关基因多态性与子痫前期的遗传易感性研究

目的探讨血管内皮细胞功能相关基因即内皮型一氧化氮合成酶(eNOS/NOS3)、血管内皮生长因子(VEGF)、胰岛素样生长因子(IGF1)基因的单核苷酸多态性(SNP)与子痫前期(PE)发病的相关性。方法选取2014年7月至2015年5月于南方医科大学附属深圳妇幼保健院分娩的汉族妇女442例,采用SNapshot技术对eNOS、VEGF、IGF基因5个位点进行检测,分析两组间基因型及等位基因频率的差异。结果 (1)深圳地区汉族妇女中暂未发现存在IGF1基因rs5742620位点、NOS3基因27bp-VNTR in intron 4位点的多态性。(2)PE组NOS3基因rs2070744位点AA基因型、A等位基因频率明显低于对照组(95.5%vs99.3%,P=0.007,OR=0.14,95%CI为0.03-0.73;97.4%vs99.7%,P=0.003,OR=0.13,95%CI为0.028-0.632)。(3)PE与对照组比较,NOS3基因rs1799983位点GG、GT、TT基因型及等位基因分布无显著差异;VEGF基因rs3025039位点GG、AG、AA基因型及等位基因分布无显著差异。结论 (1)NOS3基因rs2070744位点可能与深圳地区汉族妇女PE发生有关。(2)NOS3基因rs2070744位点AA基因型、A等位基因可能是本群体PE发病的保护因素。(3)IGF1基因rs5742620位点、NOS3基因27bp-VNTR in intron 4位点为本群体的罕见突变。     

干血片苯丙氨酸检测中最佳洗脱时间选择

目的探讨新生儿苯丙酮尿症(PKU)筛查血片中苯丙氨酸(Phe)的洗脱问题。方法应用化学荧光法检测干血片中Phe的含量。结果(1)血片放置1w内检测与两周后检测Phe的结果分别为0.9504±0.2878mg/d l和0.7562±0.2564mg/d l,经t检验P<0.01,有显著性意义;(2)振荡5m in与振荡10m in、15m in Phe含量分别为4.9188±0.5094mg/d l、5.5175±0.4184mg/d l、5.5463±0.4413mg/d l,经t检验,振荡5m in与振荡10~15m in的Phe含量有显著性差异。结论本研究显示,采用在第四步加蒸馏水后振荡至少10m in能进一步将血片中的Phe洗脱,更好地保证实验结果的准确性。     

CYP17及 ERα基因多态性与南方妇女子宫内膜异位症的相关性

目的 探讨细胞色素氧化酶17基因(cytochrome P450c17 gene,CYP17)和雌激素受体α基因(estrogen receptor α gene,ERα)多态性与中国南方妇女子宫内膜异位症(endometriosis,EM)的相关性.方法 应用高分辨率溶解曲线(high resolution melting curve,HRM)技术对432例EM患者和499例无EM的妇女 CYP17基因5′端非翻译区rs743572位点多态性(34T/C)和 ERα基因rs932233 位点多态性(-397T/C)进行分析.结果 两组均存在 CYP17 T/C和 ERα T/C多态性,但两组中基因型频率比较差异均无统计学意义(P>0.05),且在患病组和对照组中也未发现两个基因的相互作用与疾病相关.结论 CYP17基因启动子区rs743572位点多态性(34T/C)和 ERα基因rs932233 位点多态性(-397T/C)与中国南方妇女EM发病无明显相关.

Abstract：

Objective To investigate the association of single nucleotide polymorphisms in cytochrome P450 17 (CYP17) and estrogen receptor alpha (ERα) genes with the risk of endometriosis among southern Chinese women. Methods Two SNPs rs743572 (CYP17 gene 34T/C) and rs9322331 (ERα gene -397T/C) were genotyped by high resolution melting curve in 432 endometriosis patients and 499 matched controls. Results There was no significant difference in the genotype frequencies of the two loci between endometriosis patients and the control subjects (P>0.05). And there was no significant interaction effect of these two genes on the disease either. Conclusion CYP17 gene and ERα gene may not be genetic risk factors for endometriosis among southern women in China.     

肿瘤抑制基因PTEN/MMACl与Cowden病

<正> PTEN/MMAC1基因于1997年3月被美国两个独立科研小组同时发现.该基因定位在第10号染色体上,其编码的蛋白质与磷酸酶和细胞质张力蛋白同源,并在许多肿瘤中伴有第10号染色体的同源性丢失,故命名为第10号染色体同源丢失性磷酸酶-张力蛋白基因(phosphatase and tensin homologydeleted on chromosome ten,Pten)PTEN基因又名MMAC1基因,是因为Steck等发现在许多进展晚期的肿瘤中有该基因的突变,因而命名为多发性进展期癌基因(mutated in multiple advance cancer 1,MMAC1).     

磷脂酰肌醇蛋白聚糖3等抗体在高分化肝细胞肝癌中的表达及其鉴别诊断意义

目的 探讨磷脂酰肌醇蛋白聚糖3(GPC3)、CD10、CD34及甲胎蛋白(AFP)在高分化肝细胞肝癌(HCC)、高级别异型增生性结节(H-DN)、低级别异型增生性结节(L-DN)、肝硬化结节、局灶性结节状增生(FNH)和肝腺瘤中的表达及临床应用价值.方法 应用免疫组织化学(EliVision法)对80例HCC(30例高分化HCC、50例进展期HCC)、30例DN(18例H-DN、12例L-DN)、36例肝硬化结节、20例FNH及20例肝腺瘤分别进行GPC3、CD10、CD34及AFP抗体标记,分析这些抗体在肝结节性病变中的鉴别诊断价值.结果 (1)GPC3的阳性表达率在进展期HCC中为92%(46/50),在高分化HCC中为66.7%(20/30),在H-DN中为2/18,在L-DN、肝硬化结节、FNH和肝腺瘤中无表达.GPC3在高分化HCC中的阳性表达率低于进展期HCC,而高于H-DN、L-DN、肝硬化结节、FNH、肝腺瘤,表达差异有统计学意义(P＜0.05).(2)CD10在进展期HCC中的失表达率为78%(39/50),阳性细胞比率＞50%的仅为2%(1/50);在高分化HCC中失表达率为43.3%(13/30),阳性细胞比率＞50%的为16.7%(5/30),而在H-DN、L-DN、肝硬化结节中失表达率分别为0、0、2.8%(1/36),阳性细胞比率＞50%分别为15/18、11/12、80.6%(29/36);在FNH和肝腺瘤中失表达率均为20%(4/20),阳性细胞比率＞50%均为60%(12/20).CD10在高分化HCC中的阳性细胞比率高于进展期HCC,而低于在H-DN、L-DN、肝硬化结节、FNH和肝腺瘤中的表达,表达差异有统计学意义(P＜0.05).(3)GD34在进展期HCC、高分化HCC中的表达范围绝大部分在25%～100%,阳性细胞数＞50%的为76.0%(38/50)和70.0%(21/30);而在H-DN和L-DN中的表达范围多集中在5%～25%,阳性细胞数＜25%的分别为16/18、10/12;在肝硬化结节表达范围在0～5%,阳性细胞数＜25%的为27.8%(10/36).在FNH与肝腺瘤中的表达范围在25%～50%.CD34在高分化HCC中的阳性细胞数与进展期HCC中无明显差异(P＞0.05),但高于H-DN、L-DN、肝硬化结节、FNH和肝腺瘤中的阳性细胞数,差异有统计学意义(P＜0.05).(4)AFP在高分化HCC中阳性表达率为20%(6/30),在进展期HGG中阳性表达率为44%(22/50),在H-DN、L-DN、肝硬化结节、FNH和肝腺瘤中均未见表达.AFP在高分化HCC中的阳性表达率低于进展期HCC,而高于肝硬化结节、FNH和肝腺瘤,差异具有统计学意义(P＜0.05).结论 GPG3、CD10、CD34及AFP在高分化HCC的诊断与鉴别诊断中,GPC3是一个较敏感及特异的标记物,其与CD34、CD10及AFP联合使用对诊断高分化HCC以及鉴别其与DN、FNH、肝腺瘤、肝硬化结节具有较高的应用价值.

Abstract：

Objective To study the expression and significance of GPC3, CD10 and CD34 in hepatocellular carcinoma (HCC), dysplastic nodules ( DN), cirrhotic regenerative nodules (CRN), focal nodular hyperplasia (FNH) and hepatocellular adenoma (HA). Methods Immunohistocheicical study for GPC3, CD10,CD34 and AFP was performed on 80 cases of HCC (30 cases of well-differentiated HCC and 50 cases of advanced HCC), 30 cases of DN (18 cases of high-grade DN and 12 cases of low-grade DN),36 cases of CRN, 20 cases of FNH and 20 cases of HA. Results (1)The positive expression rate of GPC3was 92% (46/50) in advanced HCC, 66. 7% (20/30) in well-differentiated HCC, 2/18 in high-grade DN, and 0 in low-grade DN, CRN, FNH and HA. The expression rate of GPC3 in well-differentiated HCC was lower than that in advanced HCC and higher than that in high-grade DN (P＜0.05). (2) The negative expression rate of CD10 was 78%(39/50) in advanced HCC, 43.3% (13/30) in well-differentiated HCC,20% (4/20 and 4/20) in both FNH and HA, 2.8% (1/36) in CRN and 0 in both high-grade DN and low-grade DN. The occurrence of CD10-strongly positive cells was 2%(1/50) in advanced HCC, 16.7%(5/30) in well-differentiated HCC, 15/18 in high-grade DN, 11/12 in low-grade DN, 80.6% (29/36) in CRN and 60%(12/20 and 12/20) in both FNH and HA. The positive expression rate of CD10 in well-differentiated HCC was higher than that in advanced HCC and lower than that in high-grade DN,low-grade DN, CRN, FNH and HA(P＜0.05).(3) The positive expression rates of CD34 in advanced HCC and well-differentiated HCC ranged from 25% to 100% [and strongly positive in 76% (38/50) and 70%(21/30), respectively]. The rates in high-grade DN and low-grade DN ranged from 5% to 25% (and weakly positive in 16/18 and 10/12, respectively). In CRN, the rate ranged from 0 to 5% [and weakly positive in 27.8%(10/36)]. In FNH and HA, the positive rates ranged from 25% to 50%. The positive expression rate of CD34 in well-differentiated HCC was significantly higher than that in high-grade DN,low-grade DN, CRN, FNH and HA (P＜0.05). (4) The positive expression rate of AFP was 44%(22/50) in advanced HCC, 20% (6/30) in well-differentiated HCC, no expression in DN, LCN, LCN,FNH and HA. The positive expression rate of AFP in well-differentiated HCC was lower than that in advanced HCC and higher than that in LCN, FNH and HA. The different expression had statistical significance (P＜0.05). Conclusions GPC3 is a relatively sensitive and specific marker in pathologic diagnosis of HCC. When coupled with immunohistochemical results of CD34, CD10 and AFP, GPC3 is useful in differentiating HCC from DN, LCN, FNH and HA.     

慢性乙肝患者HBV核心基因一组单核苷酸多态性与血清HBV DNA水平的相关性研究

目的 研究慢性乙肝患者HBV核心基因的单核苷酸多态性(SNP)与血清HBV DNA水平的相关关系.方法 采用PCR-RFLP和限制性内切酶Tsp509I榆测HBV核心基因的SNP,采用双脱氧终止法对核心基因进行序列测定,实时荧光PCR技术用于HBVDNA水平的定量检测.结果 慢性乙肝人群中发现5种典型的PCR-RFLP图谱,分别是RFLP-C、RFLP-D、RFLP-E、RFLP-G和RFLP-C/G,各种RFLP图谱的分布频率依次为61.5%、2.6%、9.6%、16.7%和9.6%.A165T、A336C、A336T、T337C和T385C等5种SNP与RFLP图谱的变化有关,但是只有SNP A336C和A336T会导致HBcAg第83位的Glu被Asp所替代.RFLP-C组患者的血清HBV DNA水平显著高于RFLP-G组(P=0.02)和RFLP-C/G组(P=0 006),而且RFLP-C/G组患者血清ALT的阳性率显著低于RFLP-C、RFLP-E和RFLP-G组;当HBeAg阳性时,RFLP-C组患者的血清HBV DNA水平显著高于RFLP-G组(P=0.015)和RFLP-C/G组(P=0.008).结论 本研究中使用的PCR-RFLP能够用于检测核心基因的SNP,RFLP-C组患者的血清HBV DNA水平显著高于RFLP-G组和RFLP-C/G组,可能与Glu83 Asp突变有关.

Abstract：

Objective To investigate the relation between a set of single nucleotide polymorphisms (SNP) in core gene of HBV in chronic hepatitis B patients and HBV DNA levels. Methods PCR restriction fragment length polymorphism(PCR-RFLP) assay and restriction enzyme Tsp509I were adopted to determine HBV SNP in HBV core gene. Nucleotide sequences of core gene were determined using the dideoxy chain termination method. HBV DNA levels were quantitated with real-time PCR. Results Five typical RFLP patterns, RFLP-C, RFLP-D, RFLP-E, RFLP-G and RFLP-C/G mixture were found and the distribution of HBV RFLP patterns was as follows: C, 61. 5% ; D, 2. 6% ; E, 9.6%; G, 16.7%; C/G mixture, 9.6%. Five SNPs, A165T, A336C, A336T, T337C and T385C, were found to be associated with RFLP patterns change and only SNP A336C or A336T caused the substitution of Glu-83 with Asp in HBcAg. The serum HBV DNA levels in RFLP-C group were higher than that in RFLP-G (P =0. 02) and RFLP-C/G group(P = 0. 006) , respectively, furthermore, the positive rate of serum ALT in RFLP-C/G group was lower than that in RFLP-C, RFLP-E and RFLP-G group, respectively. Under the condition of HBeAg-positive, the serum HBV DNA levels in RFLP-C group were higher than that in RFLP-G (P = 0. 015) and RFLP-C/G group(P =0.008) , respectively. Conclusion PCR-RFLP used in this study can be adopted to determine HBV SNPs, not genotypes in Chinese patients with chronic hepatitis B. The serum HBV DNA level in RFLP-C group higher than that in RFLP-G or RFLP-C/G group maybe associated with amino acid mutation, Glu83 Asp.     

SPARC与消化道肿瘤的浸润转移

SPARC (secreted protein, acidic and rich in cysteine) 即富含半胱氨酸的酸性蛋白,为一种多功能糖蛋白,在各种生理与病理过程中发挥作用,如调节细胞与细胞外基质(extracellular matrix, ECM)相互作用、溶解黏着斑完成抗黏附反应;抑制细胞增殖及调节生长因子活性等。SPARC在正常组织中低表达或不表达,而在肿瘤组织中表达活跃。近年来,国内外学者通过大量研究发现,SPARC与消化道肿瘤的发生发展密切相关。     

α-共核蛋白的结构和功能研究进展

α-共核蛋白(αlpha-synuc le in)是一种突触前终末蛋白。它的免疫学反应存在于一些神经退行性结构如阿耳茨海默氏病(AD)包涵体的淀粉样蛋白斑和帕金森病(PD)的莱维小体之中。在非神经系统疾病中也发现了α-共核蛋白表达上调。α-共核蛋白在信号传递,神经可塑性和调节细胞分化及成活方面起一定作用。     

TPH2基因单核苷酸多态性与双相情感障碍及其自杀行为的关系

目的 探讨色氨酸羟化酶2(TPH2)基因rs7305115单核苷酸多态性与双相情感障碍及自杀行为的关系.方法 提取205例双相情感障碍患者和225名健康对照者基因组DNA,采用聚合酶链反应(polymerase chain reaction PCR)扩增包括TPH2基因rs7305115位点的312bp基因组DNA片段,PCR产物直接测序.结果 在第7外显子周围未发现其它的单核苷酸多态性.双相情感障碍患者和健康对照者TPH2 rs7305115基因型和等位基因频率无统计学意义的差别(P>0.05),但患者组内有自杀行为的个体携带基因型AA的频率及等位基因A的频率均较低,两组比较差异有统计学意义(P<0.05).结论 TPH2基因rs7305115单核苷酸多态性与双相情感障碍无明显关联,与自杀行为有关联,其可能与双相情感障碍自杀行为易感性相关.

Abstract：

Objective To explore the relation among single nucleotide polymorphism of a novel tryptophan hydroxylase isoform (TPH2) gene rs7305115,bipolar disorder and suicidal behavior. Methods Specimens of peripheral blood were collected from 205 bipolar disorder and 225 controls. A novel tryptophan hydroxylase isoform (TPH2) gene rs7305115 in length 312bp was amplitied by Polvmerase chain reaction (PCR), and the product was analyzed by direct sequencing. Results We did not discover new single nucleotide polymorphism. Compared with Control Group,no significant difference of genotypes and alleles of TPH2 gene rs7305115 single nucleotide polymorphism had been found in patient group(P>0. 05). However,there existed significant differences between suicide behavior and non suicide behavior in bipolar disorder patient in genotypea of TPH2 gene rs7305115A/A. Suicide behavior of bipolar disorder patients in AA genotypes was much lower than non suicide behavior of bipolar disorder patients (P<0. 05). Con-clusion TPH2 gene rs7305115 single nucleotide polymorphism may have no association with the susceptibility of bipolar disorder, but associated with suicide behavior in bipolar disorder. A allele may be one of the risk factors for suicide behavior in bipolar disor-der.     

Fascin与上皮组织肿瘤

Fasc in基因属于fasc ins家族,其蛋白质编码产物是一种结构独特、进化保守的肌动蛋白(actin)交联蛋白,位于细胞膜皱褶、微棘及应力纤维,在各种转化细胞中促使细胞膜突起并增加细胞运动性。近年来的研究发现,fasc in在许多上皮来源的肿瘤组织细胞中表达上调,在肿瘤的进展中起重要作用。本文综述了fasc in的研究现状及其在上皮组织肿瘤中的研究进展。     

骨形态发生蛋白-4的研究进展

骨形态发生蛋白(bone morphogenetic proteins,BMPs)属转化生长因子β(transforming growth factor-β,TGF-β)超家族成员,是1965年由Urist等首先从脱钙骨基质提取物中分离得到的一种具有独特异位骨和软骨诱导活性的酸性蛋白质。这种蛋白质具有使未分化的间充质定向分化为成骨细胞,并进而合成胶原、形成钙化骨组织的能力,因此命名为骨形态发生蛋白。在体(in vivo)和离体(in vitro)实验表明,     

深圳市2008-2009年A型H1N1季节性流感病毒神经氨酸酶抑制剂耐药性监测

目的 对深圳市2008-2009年分离到的H1N1季节性流感病毒神经氨酸酶(NA)抑制剂的耐药性进行监测.方法 根据原始临床样本的采集时间,按周抽取了55株2008-2009年分离到的H1N1季节性流感病毒,对其NA片段进行全长测序,选取WHO推荐的疫苗株和部分国内外分离到的H1N1季节性流感病毒作为参考株,运用Mega3.1软件进行种系发生树的构建、耐药相关位点及糖基化位点的分析.结果 对NA片段的序列分析发现2008年有2株(7.1%)出现了H275Y突变,但是2009年则有25株(92.6%)出现了该突变.提示H275Y达菲耐药突变株成为了2009年深圳市社区传播的优势株.同时还发现了一株Q136K变异株,显示对乐感清出现耐药.分子进化分析结果显示,H275Y变异成为了毒株在系统进化树上分布的主要依据.所有的深圳株NA片段上潜在的糖基化位点序列保守.结论 大量H275Y达菲耐药株的出现提示在今后的工作中应当密切关注流感病毒的耐药进展,进一步加强其耐药机制的研究.

Abstract：

Objective To analyze neuraminidase(NA) inhibitor resistance of seasonal H1N1 influenza A viruses isolated in Shenzhen during 2008 to 2009. Methods The NA gene of these viruses were sequenced. Phylogenetic analysis of the sequences was performed with Mega3. 1 software. Results In 2008, most isolates of the seasonal H1 N1 virus were susceptible to neuraminidase inhibitors, but the H275Y mutation in the neuraminidase gene region associated with high-level oseltamivir resistance had been detected in 92.6% of the strains isolated in 2009. Furthermore, a strain with Q136K was found, which showed the resistance to Zanamivir. Conclusion In the light of emerging resistance, close monitoring and understanding of the nature and dynamics of resistance mutations in influenza virus should be a priority.     

STAMP2基因多态性与新疆维吾尔族人原发性高血压的相关性研究

目的 探讨STAMP2基因功能区多态位点与新疆维吾尔族人原发性高血压的相关性.方法 采用以流行病学调查为基础的病例-对照研究,选取2047个维吾尔族人(包括810例高血压病患者和1237名对照)作为研究对象.首先在小样本维吾尔族高血压患者中测序筛查STAMP2基因功能区的变异位点,选取代表性变异位点应用TaqMan-PCR在大样本人群中进行基因型鉴定及病例-对照关联研究.结果 STAMP2基因的3个代表性变异位点rs8122、rs1981529及rs34741656基因型及等位基因分布在高血压组与对照组中差异无统计学意义(P＞0.05).Logistic回归分析发现3个位点不是高血压患病的危险因素(P＞0.05).rs8122、rs1981529及rs34741656不同基因型间收缩压、舒张压水平差异无统计学意义(P＞0.05).单倍型基因频率分布在高血压组与对照组中差异无统计学意义(P＞0.05).结论 STAMP2基因3个代表性单核苷酸多态性(rs8122、rs1981529及rs34741656)可能与新疆维吾尔族人原发性高血压无关.

Abstract：

Objective To investigate the relationship between the gene tic polymorphisms of the six transmembrane protein of prostate 2 gene (STAMP2)and essential hyper.tension in Xinjiang Uygur population. Methods The sequences of STAMP2 gene functional region were sequenced in Xinjiang Uygur population with hypertension. The representative variations selected were genotyped by TaqMan-PCR method in 2047 Uygur individuals, including 810 patients with hypertension and 1237 healthy subjects. The association of the genetic variations of the STAMP2 gene with hypertension in Uygur was analyzed. Results In the three representative variations (rs8122, rs1981529 and rs34741656) genotyped, there were no significant differences in genotype distribution and allele frequencies between the essential hypertension and control groups (P＞0. 05). In ANCOVA analysis, none of the polymorphisms was significantly associated with systolic blood pressure and diastolic blood pressure(P＞0.05). There were no significant differences in haplotype frequencies between the two groups either(P＞0. 05). Conclusion There was no association of the three polymorphisms (rs8122, rs1981529 and rs34741656) in the STAMP2 gene with essential hypertension in Xinjiang Uygur population.     

颅内的“胎儿内胎儿”一例

胎儿内胎儿(Foetus in foetu)是极罕见的畸形,文献中常与畸胎瘤或胚瘤混淆不清。Potter及Willis认为畸胎瘤是由混乱的三胚层组织构成的瘤,无脊柱等中轴结构。而胎儿则具有脊柱,有规律排列的组织或器官系统。Lord回顾了腹内的胎儿内胎儿,从1806—1956年共计41例。颅内的胎儿内胎儿更少。文献中仅三例。(1)Breslau等在一早产女婴膨大的颅内发现一胎儿,有可辨认的肢体、牙、口、眼及脐带等结构,且附有从女婴口中突