乙型肝炎病毒基因型与肝细胞癌发生关系的研究现状

目的总结目前国内外对乙型肝炎病毒X蛋白(HBx)、乙型肝炎病毒(HBV)基因亚型和肝细胞癌三者之间关系的研究现状,并对其在临床工作中的意义进行展望。方法查阅近年来国内外关于HBx、HBV基因亚型和肝细胞癌研究的相关文献并加以综述。结果 HBx和肝细胞癌的发生、发展、迁徙以及转移之间有着密切的关系,HBV基因亚型与肝细胞癌存在一定的关联,但具体机制尚未阐明。结论 HBx和HBV基因亚型在肝细胞癌的发生发展过程中扮演着重要的角色,随着分子机制的不断深入研究,必将推动乙型肝炎、肝硬化和肝细胞癌的诊治工作,为临床工作者提供更为个体化的干预手段。     

广西壮、汉族绝经后妇女维生素D 受体基因型与骨密度、骨代谢的关系

目的探讨维生素D受体基因(VDR)型在壮、汉族绝经后妇女中的分布及其与骨密度、骨代谢的关系.方法在广西居住20年以上的绝经后汉族妇女116名,壮族妇女82名.记录年龄、绝经年龄,测量身高、体重.采用双能X线吸收法测定骨密度(BMD);用聚合酶链反应-限制性片段长度多态性(PCR -RFLP)法测定受试者的VDR基因型;测定血清骨钙素(osteocalcin,OC)、尿脱氧吡啶啉(deoxypyridinoline,DPD)和尿肌酐(creatinine,Cr).结果壮、汉族妇女年龄、绝经年限、体重、体重指数、BMD、VDR基因型频率分布无显著性差异(P>0.05);BB、Bb、bb基因型检出率分别为6.57%、66.16%和27.27%;BB基因型组第2腰椎(L2)BMD比bb基因型组低10.03%,第4腰椎(L4)BMD分别较bb、Bb基因型组低9.63%和12.44%(P<0.05);BB基因型组骨质疏松发生率最高(46.15%),Bb基因型组次之(19.85%),bb基因型组最低(14.81%)(P<0.05);BB基因型组OC最低,与Bb、bb 基因型组比较也有显著性差异(P<0.05);三组间尿DPD排泄率(DPD/Cr)差异无统计学意义.结论 VDR基因型可作为预测广西壮、汉族绝经后妇女骨质疏松危险性的遗传学标志.     

Interferon treatment of chronic hepatitis C with cirrhosis

Summary. Among patients with hepatitis C who have cirrhosis the rate of sustained response following interferon therapy is only half that of patients without cirrhosis. Although it has been suggested that a higher dose regime in patients with cirrhosis may improve response, this remains largely untested. The results of a recent Australian study of cirrhotic patients who were given an intense interferon programme of 4.5 MIU daily for 24 weeks were compared with previous studies of patients with hepatitis C. Of 11 studies of interferon response in chronic hepatitis C comparison of pretreatment variables showed considerable differences. Identification of predictors of response by univariate and multivariate analysis regularly indicated the importance of age and fibrosis. Analysis of six studies with either a poor (5% or less) or a reasonable (14–19%) sustained response rate to interferon in patients with cirrhosis suggested that a higher dose or longer duration of therapy was associated with better results. The experience of the Australian study, where 14% of patients had a sustained biochemical response to interferon and side-effects were reasonably tolerated with careful monitoring, suggests that future studies in cirrhosis should be carried out exploring higher doses and longer durations of therapy.     

Is the mixture of human cytomegalovirus genotypes frequent in infants with congenital infection at birth in a high seroprevalence population?

It is still not well known, in a population with high human cytomegalovirus (HCMV) seroprevalence, whether a child with congenital infection harbors multiple viral strains at birth, and whether the prolonged viral excretion in these children is secondary to the persistence of the same viral strain. To verify the genomic diversity of HCMV detected in congenitally infected children, the nucleotide viral sequences from urine and/or saliva obtained at birth from 14 newborns with congenital infection and breast milk obtained from mothers of 5 of these children were analyzed. Among the 14 children, 10 had sequential samples until the median age of 10 months. The viral nucleotide sequences in the breast milk were compared with those identified in the respective children at birth. The differentiation of viral strains was based on the variability of 3 regions of viral genes (UL55/gB, UL144, and UL73/gN). In 13/14 children (92.8%), a single genotype was observed at birth. Different viral genotypes were found in 1 child (7.2%). Among the sequential samples from 10 children, the same genotype obtained at birth was detected in 9/10 (90%), and in 1 of them (10%), a genotype change in the urine was found. More than 1 HCMV strain in milk was observed in 2 mothers (2/5, 40%). In a population with high seroprevalence, a single genotype was found in the majority of infected children. Reinfection did not frequently occur in the first months of life. Maternal reinfection does not seem to be a rare event in transmitter mothers.     

重庆地区地中海贫血基因突变类型分析

目的了解重庆地区地中海贫血患者基因突变类型及分布,以指导优生优育。方法采用聚合酶链式反应(PCR)和膜杂交术,进行α-地中海贫血和β-地中海贫血基因检测。结果 2012年9月至2013年9月共检出349例地中海贫血患者,其中α-地中海贫血患者125例,α-地中海贫血患者的基因突变类型以缺失为主,缺失类型主要为东南亚型缺失--SEA/αα(占73.60%)和右侧缺失-3.7/αα(占19.20%)。检出β-地中海贫血患者211例,基因突变热点分别为CD17(A→T)(29.38%)、CD41-42(-TCTT)(28.91%)、IVS-Ⅱ-654(C→T)(27.49%)。α-地中海贫血兼β-地中海贫血13例。结论了解重庆地区地中海贫血基因突变类型及分布可以为该地区地中海贫血的遗传咨询和临床诊疗提供有价值的信息。     

Haptoglobin genotypes polymorphism as a risk factor for subclinical atherosclerosis in beta-thalassemia major children; a single center Egyptian study

Abstract

Background/Objectives

Haptoglobin (Hp) is an antioxidant protein. Its genotypic polymorphism had been proposed to influence vascular complications among diabetics, but no data are available about this association among thalassemia patients so far. We have investigated the assumption of an association between Hp genotypes and subclinical atherosclerosis among beta-thalassemia major (TM) children.

Methods

One hundred beta-TM children and 70 matched healthy controls were included. Serum ferritin level and fasting lipid profile were assayed. Haptoglobin genotyping was determined by amplification gel electrophoresis. Carotid intima media thickness (cIMT) was measured using high resolution ultrasound.

Results

The relative distribution of the three Hp genotypes among thalassemia group and the control group were 18 and 14.3% for Hp1-1; 38 and 37.1% for Hp2-1; and 44 and 48.6% for Hp2-2 respectively. There was no significant difference between patients and controls regarding Hp genotypes distribution. Hp2-2 genotype TM children had significantly higher cIMT compared to other genotypes (P < 0.0001). Elevated cIMT was significantly represented in Hp2-2 genotype patients (P < 0.0001) who had higher serum ferritin compared to their counterparts (P < 0.05). Hp2-2 patients were five times more likely to suffer from subclinical atherosclerosis than Hp1-1 and six times than Hp2-1 genotype patients (P = 0.008 and 0.001, respectively); a difference that persisted significant after adjustment for some risk factors compared to Hp2-1 patients (OR 3.96; P = 0.02).

Conclusions

Hp2-2 genotype is a significant predictor for premature atherosclerosis in TM children and confers them an increased risk for iron overload.     

福州市健康人群中乙肝病毒感染的检测分析

目的了解福州市健康人群中乙肝病毒感染情况及HBV流行株的基因分布特性,为福州市乙型肝炎防制工作提供科学依据。方法采用ELISA方法检测乙肝病毒免疫学标志物,应用荧光定量PCR检测HBV-DNA含量,用型特异性引物套式PCR进行乙型病毒基因分型。结果1710份样品中HBsAg、HBsAb、HBeAg、HBeAb、HBcAb阳性率分别为12.51%、50.23%、2.40%、16.73%、60.18%;201份HBsAg阳性样品中HBV-DNA阳性率为76.12%;HBV-DNA阳性标本中,B型62份(41.89%)、C型57份(38.51%)、B、C混合型7份(4.73%)、未能分型22份(14.86%)。结论福州市健康人群中HBsAg携带率为12.51%,高于全国平均水平,HBV基因型以B、C型为主,应该加强乙肝的预防控制工作。     

Distribution of HCV genotypes among risk groups in Serbia

Blood samples from 190 patients that were anti-hepatitis C virus (HCV) positive were genotyped and 165 were found to contain HCV–RNA. Genotyping was performed by PCR based on type-specific primers (117 isolates) and LiPA test (48 isolates) and verifying by sequencing. In Serbia, the most frequent genotype was 1b (49.1%), followed by genotype 3 (21.2%) and genotype 1a (8.5%). The frequency of genotypes 2 and 4 was below 5% and mixed infections were encountered in 9.1% of cases. Distribution of genotypes was monitored in different risk groups: intravenous drug abusers, patients under blood transfusion, patients with previous history of surgery, patients undergoing hemodialysis and those with unknown risk factors. Genotype distribution is essentially the same in all the groups, except for the patients undergoing hemodialysis and those with previous history of surgery where significant difference exists compared with the group with unknown route of transmission (p < 0.001 and p < 0.05, respectively). There exists significant age-dependent genotype 3 distribution in Serbian population (p < 0.01).