干扰素诱导跨膜蛋白3基因rs12252多态性与新型冠状病毒肺炎关联性研究

目的:了解干扰素诱导跨膜蛋白3（IFITM3）基因rs12252多态性与新型冠状病毒感染之间的关联。方法:选择2020年1月至2021年1月北京市监测发现的新型冠状病毒肺炎病例及无症状感染者446例和健康对照人群65例。提取呼吸道样本基因组DNA,使用Sanger测序法检测IFITM3基因rs12252多态性。结果:无...     

干扰素诱导跨膜蛋白3基因多态性与小儿流感严重程度相关性研究

目的分析轻症和重症流感患儿干扰素诱导跨膜蛋白3基因(IFITM3)rs12252T/C基因多态性的分布特点,探讨其基因多态性与小儿流感严重程度的相关性。方法选择符合流感诊断标准的患儿60例,其中重症流感患儿和轻症流感患儿各30例,通过从患儿外周血提取DNA扩增相应的目的片段并测序,检测IFITM3基因rs12252单核苷酸多态性分布情况,统计学分析小儿流感遗传易感性、严重程度相关的基因型和等位基因。结果 IFITM3基因rs12252 CC基因型在重症组患儿中占70.00%而在轻症组仅占26.67%;在隐形遗传模型中,CC纯合子比TT纯合子和CT杂合子有6倍大的风险患重症流感(OR=6.42,95%CI为2.08~19.76)。结论 IFITM3基因rs12252T/C基因多态性对中国人群流感的流行病学具有重要影响,CC基因型可能与儿童流感的严重程度相关。     

单核苷酸多态性的研究进展

单核苷酸多态性 (SNPs)是指存在于某一人群或个体基因组内的单个碱基发生突变 ,正是由于这些突变 ,导致了群体与群体及个体与个体之间的差异。许多疾病的易感性、个体的药物敏感性等均与SNPs有关。建立快速高效的SNPs检测方法和强大的数据库 ,能为人类基因组功能研究和SNPs的应用研究提供坚实的基础。     

ADAM33 基因rs2280090, rs487377, rs2787094 多态性与哮喘的相关性研究

目的:探讨ADAM33 基因多态性与青岛地区汉族成人哮喘的相关性。方法:采用SNaPshot 方法检测研究对象ADAM33 基因rs2280090、rs487377、rs2787094 共3 个位点的基因多态性。结果:rs2280090、rs487377 和rs2787094 基因型频率在哮喘组与对照组间差异无统计学意义(P>0.05)。结论:ADAM33 基因rs2280090、rs487377 和rs2787094 多态性与青岛地区汉族成人哮喘无相关关系。     

广西汉族人群中缺氧诱导因子3A基因rs11672731和rs2072491 的多态性

目的 探讨缺氧诱导因子3A(HIF3A)在广西汉族人群中的分布特征,并比较它们与不同人群的分布差异.方法 我们对纳入本研究的286例广西人rs1 1672731和rs2072491位点采用单核苷酸多态性分型检测(SNPscan)技术进行基因分型检测,统计学分析基因型和等位基因频率与人类基因组单体型图(HapMap)公布...     

miR-143/145启动子区rs17723799多态性与宫颈癌易感性的相关性研究

目的:探讨miR-143/145启动子区rs17723799多态性与宫颈癌的关系.方法:选取242例宫颈癌患者及249例健康志愿者作为对照,采用SnaPshot和Sanger测序法对rs17723799进行多态性检测,对临床数据进行分层分析,qRT-PCR检测宫颈癌组织中miR-143/145相对表达.结果:rs172...     

eotaxin-3基因多态性与变应性哮喘的相关性

目的研究eotaxin-3基因多态性与变应性哮喘的相关性。方法用聚合酶链反应-单链构象多态性-四引物聚合酶链反应-限制性酶切的方法对湖北地区汉族成人eotaxin-3＋77C／T和＋2497T／G单核苷酸多态性与哮喘易感性、嗜酸性粒细胞（eosinophil，EOS）计数以及血浆总IgE水平的相关性进行了分析。结果eotaxin-3＋2497位哮喘组与对照组G等位基因的频率，哮喘组IgE浓度及EOS数量差异有统计学意义，P值分别为0．01l、0．021和0．029；＋77位哮喘组与对照组T等位基因的频率，哮喘组IgE浓度差异无统计学意义，P值分别为0．824和0．473；＋77位哮喘组EOS数量差异有统计学意义，P值为0．044。结论eotaxin-3＋2497T／G多态性与哮喘易感性、EOS数量及IgE水平相关，＋77位C／T基因多态性与哮喘EOS数量相关。     

黄体生成素受体rs61996318基因多态性与多囊卵巢综合征的相关性研究

目的探讨黄体生成素受体(Luteinizing hormone receptor,LHR)基因rs61996318多态性与PCOS的相关性。方法应用聚合酶链反应-限制性片段长度多态性(Polymerase chain reaction-restriction fragment length polymorphism PCR-RFLP)方法对北京大学第三医院及北京妇产医院生殖中心门诊患者进行LHR基因rs61996318多态性进行检测,并通过基因测序证实。结果 RFLP检测未发现rs61996318位点突变。通过基因测序证实无突变。结论 LHCGR的SNP位点rs61996318是中国人稳定的多态位点,与PCOS的发病无关。     

FTO rs8050136多态性与黑龙江地区汉族人群2型糖尿病的相关性

目的探讨FTO基因rs8050136单核苷酸多态性与2型糖尿病（T2DM）的相关性。方法采用病例对照研究：病例组为500例,对照组为500例。利用SNa Pshot方法检测基因型。研究FTO基因rs8050136等位基因、基因型和显性模型与T2DM的关系。结果 FTO基因SNP rs8050136等位基因A与C相比,在T2DM组和对照组间的分布频率有统计学意义（P〈0.05,OR：1.28,95%CI：1.12~1.54）;与CC基因型相比,CA基因型和显性模型CA＋AA在两组间的比较有显著差异（P〈0.05,OR：1.25,95%CI：1.03~1.59;P〈0.05,OR：1.29,95%CI：1.13~1.47）。结论 FTO基因SNP rs8050136增加我省人群患T2DM的风险。     

SNaPshot技术检测乙型肝炎病毒基因组P基因区单核苷酸多态性的研究

目的　建立SNaPshot技术对乙型肝炎病毒(HBV)基因组P基因区单核苷酸多态性(SNP)的分析。方法　针对HBVYMDD变异位置的上、下游设计引物,用PCR方法进行DNA扩增,产物直接测序或克隆测序。再针对变异位点74 1A G变异型(YVDD)和74 3G T变异型(YIDD)的紧邻上游设计高度特异的SNaPshot检测引物,用不同荧光标记的ddNTP对PCR产物进行一步延伸,然后置于310型DNA测序仪上观察荧光信号,可直观的检测上述两位点的单核苷酸多态性。结果　在拉米夫定治疗的慢性乙型肝炎患者中,经测序证实P基因区不仅存在74 1、74 3位点的变异,还存在5 14C A、5 2 3C A、5 6 2T A、6 6 7C A等位点的变异。对已证实P基因区变异的13例患者血清用SNaPshot技术检测YMDD结果与测序结果完全相同,显示SNaPshot技术高度的特异性。结论　SNaPshot技术检测HBV基因组SNPs具有快速、简便、准确特异的特点,还检测到野生株和变异株的混合存在。     

Recurrent Plastic Bronchitis in a Child with 2009 Influenza A (H1N1) and Influenza B Virus Infection

Plastic bronchitis is an uncommon disorder characterized by the formation of bronchial casts. It is associated with congenital heart disease or pulmonary disease. In children with underlying conditions such as allergy or asthma, influenza can cause severe plastic bronchitis resulting in respiratory failure. A review of the literature showed nine cases of plastic bronchitis with H1N1 including this case. We report a case of a child with recurrent plastic bronchitis with eosinophilic cast associated with influenza B infection, who had recovered from plastic bronchitis associated with an influenza A (H1N1) virus infection 5 months previously. To the best of our knowledge, this is the first case of recurrent plastic bronchitis related to influenza viral infection. If patients with influenza virus infection manifest acute respiratory distress with total lung atelectasis, clinicians should consider plastic bronchitis and early bronchoscopy should be intervened. In addition, management for underlying disease may prevent from recurrence of plastic bronchitis.     

2015~2018年乌鲁木齐市B型流感病毒流行特征分析

目的 通过对近几年乌鲁木齐市流感病毒数据的分析,了解B型流感病毒的流行趋势,掌握其流行的特征和规律,为政府有效预防和控制提供科学依据。方法 采用描述性方法,从时空分布和人口特征学等方面对从中国疾病预防控制中心信息系统中导出的乌鲁木齐市2015年4月1日~2018年3月31日B型流感病毒核酸阳性检测结果进行统计分析。结果 2015~2018年乌鲁木齐市B型流感阳性检出率依次为29.02%、21.94%、37.65%,总阳性率在不同时间段之间的差异具有统计学意义（P＜0.05）。男性整体检出率高于女性,不同性别之间阳性标本阳性率差异具有统计学意义（P＜0.05)。以5岁以下低年龄组检出率最高（占68.99%）,6~15岁的年龄组次之,16岁以上年龄组最低,阳性标本在年龄之间的阳性率差异具有统计学意义（P＜0.05)。结论 乌鲁木齐市B型流感主要存在By和Bv两种系别的流行,流行季节以春、冬为主,男性易感于女性,5岁以下婴、幼儿为主要发病人群,加强流感的实时监测,特别是及时掌握已暴发中分离的流感毒株的变异情况,对于B型流感的预防控制有重要意义。     

Association of Polymorphism in MicroRNA 604 with Susceptibility to Persistent Hepatitis B Virus Infection and Development of Hepatocellular Carcinoma

MicroRNA polymorphisms may be associated with carcinogenesis or immunopathogenesis of infection. We evaluated whether the mircoRNA-604 (miR-604) polymorphism can affect the persistence of hepatitis B virus (HBV) infection, and the development to hepatocellular carcinoma (HCC) in patients with chronic HBV infection. A total of 1,439 subjects, who have either past or present HBV infection, were enrolled and divided into four groups (spontaneous recovery, chronic HBV carrier without cirrhosis, liver cirrhosis and HCC). We genotyped the precursor miR-604 genome region polymorphism. The CC genotype of miR-604 rs2368392 was most frequently observed and T allele frequency was 0.326 in all study subjects. The HBV persistence after infection was higher in those subjects with miR-604 T allele (P=0.05 in a co-dominant and dominant model), which implied that the patients with miR-604 T allele may have a higher risk for HBV chronicity. In contrast, there was a higher rate of the miR-604 T allele in the chronic carrier without HCC patients, compared to those of the HCC patients (P=0.03 in a co-dominant model, P=0.02 in a recessive model). The T allele at miR-604 rs2368392 may be a risk allele for the chronicity of HBV infection, but may be a protective allele for the progression to HCC in chronic HBV carriers.

Graphical Abstract

相似文献   

Autophagy-Related 5 Gene rs510432 Polymorphism Is Associated with Hepatocellular Carcinoma in Patients with Chronic Hepatitis B Virus Infection

Background: Despite the identification of autophagy-related protein 5 (ATG5) as a molecule involved in the activated autophagy machinery during hepatitis B virus (HBV) infection and hepatocarcinogenesis, the consequences of ATG5 mutation carriage for patients with chronic HBV infection remain unclear. This study examined the association of ATG5 polymorphisms with HBV-related diseases including hepatocellular carcinoma (HCC).

Patients and Methods: Two functionally relevant polymorphisms ATG5 rs573775 and rs510432 were genotyped by ligase detection reaction-polymerase chain reaction in 403 patients with chronic HBV infection (171 chronic hepatitis, 119 cirrhosis and 113 HCC) and 196 healthy controls. Univariate and multivariate logistic regression was performed to evaluate factors associated with HCC.

Results: The rs573775 genotype and allele frequencies had no significant differences between patients with different clinical diseases. However, HCC patients had significantly higher frequency of rs510432 genotype AA (odds ratio [OR] 2.185, 95% confidence interval [CI] 1.042–4.581, P = 0.037, P value by Bonferroni correction [P_c] = 0.074) and allele A (OR 1.435, 95% CI 1.023–2.013, P_c = 0.036) than chronic hepatitis patients. In multivariate analyses, rs510432 allele A-containing genotypes (AA+GA) were independently associated with cirrhosis in comparison to chronic hepatitis (OR 1.927, 95%CI 1.011–3.017, P = 0.032). The rs510432 genotypes AA+GA were also independently associated with HCC in comparison to chronic hepatitis (OR 2.583, 95% CI 1.025–3.911, P = 0.006) or chronic HBV infection without HCC (OR 2.632, 95% CI 1.067–3.482, P = 0.032).

Conclusion: These results indicate that rs510432 genotypes AA+GA are associated with disease progression and HCC risk in chronic HBV infection, providing novel evidence for a role of ATG5 in the pathogenesis of HBV-related HCC.

Abbreviations: HBV: hepatitis B virus; HCC hepatocellular carcinoma; TNFSF10: tumor necrosis factor superfamily member 10; ATG5: autophagy-related protein 5; DNA: deoxyribonucleic acid; LDR-PCR: ligase detection reactions-polymerase chain reaction; PCR: polymerase chain reaction; SLE: systemic lupus erythematosus; BD: Behçet’s disease; IL-10: interlukin-10; LPS: lipopolysaccharide; PBMC: peripheral blood mononuclear cells; CWP: coal workers’ pneumoconiosis; TNF-α: tumor necrosis factor-α     

当前流行的乙型流感病毒血凝素蛋白的抗原性及其基因特性

通过抗原性分析弄清了近年来连续２次乙型流感病毒在我国人群中造成流感流行，是由于乙型流感病毒株发生抗原性变异所造成。通过毒粒基因分析发现，我国人群中流行的Ｂ／Ｐａｎａｍａ／４５／９０类毒株，其ＨＡＩ区氨基酸序列比国际代表性毒株Ｂ／Ｐａｎａｍａ／４５／９０病毒在１６５位点上多一个氨基酸（天冬酰胺），乙型流感病毒流行株可能具有地区性差异。     

乙型肝炎病毒感染与结直肠腺瘤的相关性研究

目的 探讨乙型肝炎病毒（HBV）感染对结直肠腺瘤发生发展的影响。方法 选取2016年1月~2018年1月于我院接受筛查或诊断性结肠镜检查符合入组标准的506例患者进行回顾性病历对照研究。按照乙肝五项定量结果分为非HBV感染组及HBV感染组,感染组人员依据HBV-DNA结果进一步分为HBV-DNA阳性组与HBV-DNA阴性组,比较乙型肝炎病毒感染不同状态与非感染者腺瘤发生率之间的差异及HBV活动对腺瘤发生部位,大小等的影响。结果 ①HBV感染组和非HBV感染组在年龄、性别、吸烟史、饮酒史、高血压史、糖尿病史、胆囊切除史、药物服用史等方面比较,差异均无统计学意义（P＞0.05）;②HBV-DNA阳性组腺瘤发病率高于非HBV感染组（37.10% vs 24.16%）差异有统计学意义（P＜0.05）;③HBV-DNA阳性组远端结肠腺瘤性息肉、腺瘤数目≥2个的发病率高于非HBV感染组（24.19% vs 12.47%）,差异均有统计学意义（P＜0.05）,HBV-DNA阳性组进展期腺瘤、＞10 mm及近端结肠腺瘤性息肉腺瘤发病率高于非HBV感染组,但差异无无统计学意义（P＞0.05）。结论 HBV感染患者远端结肠腺瘤发病率升高且全肠段易多发腺瘤,对于各类型慢性乙型肝炎患者或反复乙型肝炎再活动者应采取与普通人不同的结直肠腺瘤筛查及预防策略。     

Influenza A virus hemagglutinin is a B cell-superstimulatory lectin

Influenza A viruses display T cell-independent polyclonal B cell-activating properties which are mediated by the B cell-superstimulatory envelope glycoprotein hemagglutinin (HA). In this report, the receptor-binding requirements for B cell activation by influenza viruses were expected. Neuraminidase treatment of resting mature B cells from BALB/c mice abrogated late (proliferation/immunoglobulin synthesis), early (up-regulation of cell surface markers, including CD25, B220, and B7-1) and veryearly events (homotypic adhesion) in virus-responding B lymphocytes. Similarly, pretreatment of murine responder cells with different inhibitors ofN-glycosylation (tunicamycin, deoxymannojirimycin) significantly suppressed subsequent B lymphocyte activation by HA, but not control responses to lipopolysaccharide or anti-μ. Assays with chimeric HA transfectants, expressing the loop region of epitope B (amino acids 155–160) of the globular head of H2 (high B cell-stimulatory subtype) or H3 (medium-stimulatory subtype) on the protein backbone of a low-stimulatory subtype (H1) failed to alter the B cell-stimulatory activity of the virus, suggesting that the hypervariable loop region is not crucial in determining the B cell-activating properties of the protein. Collectively, our results imply that the B cell-superstimulatory function of influenza virus HA is not mediated by a direct protein/protein interaction, but via binding of HA to terminal sialic acid residues on cell surface receptor glycoproteins. These findings identify the influenza virus HA glycoprotein as the first viral lectin with lymphocyte-activating properties.     

Genetic Polymorphisms of LMP/TAP Gene and Hepatitis B Virus Infection Risk in the Chinese Population

Despite the availability of effective vaccines, hepatitis B virus (HBV) infection is still commonly seen worldwide. Several reports show that the human major histocompatability complex (MHC) systems were involved in the elimination of HBV via the restrictive antigen-processing pathway. We investigate whether LMP/TAP gene polymorphisms coded by MHC-II region were associated with HBV infection. A total of seven polymorphisms of LMP/TAP gene were identified by polymerase chain reaction (PCR) restriction fragment length polymorphism (RFLP) assays. Three hundred fifty-six patients and 326 unrelated healthy volunteers were included in the case-control study. Of the seven polymorphisms, three of which (LMP7 codons 145, TAP1 codons 637, and TAP2 codons 651) were observed to have statistically significant association with HBV infection (P < 0.05). We analyzed the three-locus haplotype constructed with three such polymorphisms and found that the frequency of haplotypes D and E increased significantly in patients, in comparison with that in controls (OR = 3.57, 95% CI: 2.09–6.12, P < 0.001; OR = 2.74, 95% CI: 1.35–5.56, P = 0.005, respectively). The results imply that LMP7-145, TAP1-637, and TAP2-651 sites were associated with the risk of HBV infection. Haplotypes D and E might be involved in the development of HBV infection. These data suggest a potential role of LMP/TAP gene as a candidate gene for susceptibility to HBV infection.     

流感病毒呼吸道黏膜感染免疫防御机制的研究进展

流感发病率高,流行广,是由流感病毒通过呼吸道黏膜感染引起的重要传染病。呼吸道黏膜不仅是流感病毒的感染部位,也是防御病毒感染的部位。在流感病毒侵入机体后天然免疫系统立即作出应急反应,如果病毒逃过了非特异性免疫系统,就会被获得性免疫系统加以反应性清除。     

1983-2013年B型流感病毒的重配研究

目的 研究1983-2013年间B型流感病毒的重配变异情况.方法 对GenBank数据库中1983-2013年间具有8个片段全基因组序列的B型流感病毒进行分析,利用Simplot软件筛选重配病毒,利用MEGA软件进行系统进化分析验证重配病毒.结果 获得432株B型流感病毒的全基因组序列,在66株代表病毒中,共计发现了22株重配株,其中9个为系内重配,13个为系间重配.在9个系内重配病毒中,2个B/Vic-87系内重配,7个B/Yam-88系内重配.Simplot软件结果和MEGA软件验证结果相似.结论 B型流感病毒间的重配事件频繁发生,既存在系内重配,也存在两系间的重配.Simplot软件可以用于快速筛选B型流感重配病毒.