献血员隐匿性乙型肝炎病毒感染的分子流行病学

目的 了解献血员中隐匿性HBV感染的发生率,从S基因变异角度探讨隐匿性HBV感染可能的分子机制.方法 收集经血站筛查HBsAg阴性的合格献血员血浆594份,ELISA法检测HBV血清学标志物,套式PCR检测血清HBV DNA.对筛查出的隐匿性HBV感染者再次用雅培试剂定量检测HBV血清学标志物,并对其S区进行测序,发现可能与HBV隐匿性感染有关的变异位点.随机收集11例HBsAg阳性的HBV感染者作为阳性对照,对其S区进行测序,比较其与隐匿性HBV感染之间的关系.结果 在594例献血员中有15例为隐匿性HBV感染,隐匿性HBV感染的发生率为2.5％.未发现HBV血清学标志物检测结果与隐匿性HBV感染有相关性.15例隐匿性HBV感染者中有10例进行了S区测序,结果HBV均有不同程度的变异,其中3例在“a”决定簇内出现氨基酸突变,分别为1126T(1例)、T140I(2例).与隐匿性HBV感染者相比,阳性对照在“a”决定簇内仅出现了1例T131N变异.结论 常规检测HBsAg阴性的献血员中存在隐匿性HBV感染,且这些病毒可能存在变异.     

湖北省汉族人类免疫缺陷病毒感染人群白细胞介素28B的基因多态性

目的 了解湖北省汉族HIV、HCV合并感染人群IL28B基因型的分布.方法 纳入100例抗HIV、抗-HCV均阳性的汉族人群,荧光定量PCR检测HCV RNA,基因测序法对IL28B进行基因分型.数据行x2检验.结果 目标人群IL-28B基因型中,95例为C/C基因型,C/C基因型频率为96.0％,其中,HCV RNA阴性20例,占21.1％;5例C/T和T/T基因型患者中,无HCV RNA阴性病例(x2=1.043,P-0.588).结论 湖北省汉族HIV、HCV合并感染人群IL-28B 基因型中C/C基因型所占比例较高.     

基于核心基因、非结构基因5B序列的丙型肝炎病毒基因分型法与线性探针技术对广东地区慢性丙型肝炎患者基因分型的比较

目的 利用核心基因(core)、非结构基因5B(NS5B)序列与线性探针技术(LiPA)研究广东地区慢性丙型肝炎患者HCV的基因型分布,探讨LiPA基因分型的准确性.方法 分别采用core和NS5B片段序列和INNO-LiPA 2.0对广东地区110例慢性丙型肝炎患者进行基因分型.使用SPSS 10.0统计软件对数据进行分析,两样本间的比较采用x2检验.结果 110份HCV样本中有97份扩增到core区段序列,62份扩增到NS5B区段序列,同时扩增到core、NS5B序列的样本有57份.core与NS5B序列的分型结果一致,102份标本被分为1b、2a、3a、3b、6a 5个亚型,分别占61.8％、9.8％、3.9％、3.9％和20.6％.在基因型水平,除6型外,其他基因型均能通过INNO-LiPA2.0正确分型;在亚型水平,除1b和3b型,其他亚型未能被准确区分,其中81.5％的6a型被错分为1b型.结论 6a型已成为广东地区慢性丙型肝炎患者中第二大基因型,LiPA技术是否能准确区分6a型与1b型,有待进一步研究.     

贵州地区发现的一株疑似基因Ⅰ型乙型肝炎病毒分析

根据HBV全基因核苷酸序列的异质性≥8％或S区基因序列差异≥4％,将HBV分为A-H 8种基因型[1].除了这些已知的基因型外,还有一些新基因型未被列入其中,包括HBV-Ⅰ和HBV-J[2-3].HBV基因型的分布具有明显的地域特征,HBV基因型不仅能反映核苷酸变异程度和病毒种系的发生关系,还可能与感染者的临床表现、预后及疗效有一定的关系.现报道在贵州发现的1例HBV病毒株可能为新的基因型HBV-Ⅰ.     

延安地区乙型肝炎病毒基因型与干扰素抗病毒治疗的效果

目的 了解延安地区不同HBV基因型临床特征及其干扰素抗病毒治疗的效果.方法 用PCR鉴定延安地区130例慢性乙型肝炎患者的HBV基因型,并对患者应用干扰素α-2b抗病毒治疗12个月,随访12个月,对治疗及随访资料进行回顾性分析.统计学处理采用x2检验.结果 延安地区HBV基因型以B、C基因型为最常见;B基因型HBeAg阳性率明显低于C基因型,且B+C基因型HBeAg阳性率也明显低于C基因型;B基因型与B+C基因型、B基因型与D基因型、C基因型与D基因型、D基因型与B+C基因型的HBeAg阳性率比较,差异均无统计学意义.B基因型对干扰素的完全应答率、持续应答率明显高于C基因型,而无应答率低于C基因型;B+C基因型的干扰素应答率低于B、C基因型.结论 延安地区B、B+C基因型HBeAg阳性率明显低于C基因型;B基因型对干扰素的完全应答率高于C基因型,B+C基因型的干扰素应答率低于B、C基因.     

Apolipoprotein E s4 Allele and Outcomes of Traumatic Spinal Cord Injury

Abstract

Background/Objective: To test the hypothesis that apolipoprotein E (APOE) polymorphisms are associated with outcomes after spinal cord injury (SCI).

Methods: Retrospective cohort study, from rehabilitation admission to discharge.

Participants: Convenience sample of 89 persons with cervical SCI (C3-C8) treated from 1995 through 2003. Median age was 30 years (range 14-70); 67 were male (75%) and 83 were white (93%).

Main Outcome Measures: American Spinal Injury Association (ASIA) motor and sensory scores, ASIA Impairment Scale (AIS), time from injury to rehabilitation admission, and length of stay (LOS) in rehabilitation.

Results: Subjects with an APOE s4 allele (n = 15; 17%) had significantly less motor recovery during rehabilitation than did individuals without an s4 allele (median 3.0 vs 5.5; P < 0.05) and a longer rehabilitation LOS (median 106 vs 89 days; P = 0.04), but better sensory-pinprick recovery (median 5.0 vs 2.0; P = 0.03). There were no significant differences by APOE s4 allele status in sensory-light touch recovery, likelihood of improving AIS Grade, or time from injury to rehabilitation admission.

Conclusions: APOE ε4 allele was associated with differences in neurological recovery and longer rehabilitation LOS. Genetic factors may be among the determinants of outcome after SCI and warrant further study.     

A Novel Missense Mutation,Leu390Val,in the Cardiac ß-myosin Heavy Chain Associated with Pronounced Septal Hypertrophy in Two Families with Hypertrophic Cardiomyopathy

Objective: An examination of the genetic background and phenotypic presentation of familial hypertrophic cardiomyopathy (FHC) with respect to specific mutations in the MYH7     

胃十二指肠疾病儿童幽门螺杆菌cagA、vacA和iceA基因型分布

目的了解来自于江西地区胃十二指肠疾病儿童感染的幽门螺杆菌(H.pylori)临床分离菌株cag A、vac A和ice A基因亚型分布情况,并探讨H.pylori cag A、vac A和ice A基因亚型与儿童胃十二指肠疾病类型之间的关系。方法从来自江西地区的316例患有胃十二指肠疾病儿童的胃窦黏膜中,培养出107株H.pylori菌株,提取菌株基因组DNA,采用PCR法检测H.pylori ure A、cag A、vac A及ice A基因亚型。结果在107株H.pylori临床分离菌株中,H.pylori ure A基因和cag A基因检出率分别为100%(107/107)和94.4%(101/107)。vac A基因总检出率为100%(107/107),vac As1a、vac As1c、vac Am1和vac Am2基因检出率分别为74.8%(80/107)、25.2%(27/107)、29.9%(32/107)和69.2%(74/107),其中0.9%(1/107)H.pylori菌株同时检测出vac Am1和vac Am2基因型;在vac A基因的嵌合体中,vac As1a/m1、vac As1a/m2、vac As1c/m1和vac As1c/m2基因检出率分别为26.2%(28/107)、51.4%(55/107)、3.7%(4/107)和17.8%(19/107)(P0.001)。ice A1和ice A2基因阳性检出率分别为79.4%(85/107)和9.3%(10/107)(P0.001);ice A1和ice A2基因亚型均阳性的检出率为7.5%(8/107)。H.pylori各基因亚型在消化性溃疡、慢性胃炎和十二指肠球炎3组间的检出率比较差异无统计学意义(P0.05)。结论来自于江西地区胃十二指肠疾病儿童感染的H.pylori优势基因亚型是cag A、vac As1a/m2和ice A1;H.pylori感染存在不同基因型菌株混合感染;H.pylori基因亚型与胃十二指肠疾病类型无相关性。     

A Genetic Variant rs1020760at NFKB1 is Associated with Clinical Features of Psoriasis Vulgaris in a Han Chinese Population

Psoriasis vulgaris is a chronic inflammatory skin disease associated with complex genetic susceptibility. Recently, we identified a single‐nucleotide variant rs1020760 at NFKB1 significantly associated with psoriasis in a Han Chinese population in deep analysis of exome and targeted sequencing (P = 1.76 × 10^?8). To investigate the potential association between rs1020760 and phenotypes of psoriasis vulgaris, we performed a genotype–phenotype analysis. A total of 9946 cases and 9906 controls with detailed clinical and demographic information were involved in this study, while the genotype data of rs1020760 was available in the previous targeted sequencing study of psoriasis. Genotype‐based association testing revealed the additive model might provide the best fit for rs1020760 (P = 5.44 × 10^?8). Case‐only analysis showed that the distribution of allele G was significantly different between the cases with and without family history (P_allele = 4.07 × 10^?3,P_genotype = 5.75 × 10^?3). The differences in allele and genotype frequencies were observed between all the subphenotypes and controls except for the genotype frequency of the late onset subgroup, while no difference was found in case‐only analysis for the other two subphenotypes. Rs1020760 was preferentially associated with family history of psoriasis, implying that NFKB1 might not only play important roles in the development of psoriasis, but might also contribute to the special phenotypes of this disease.