中国维吾尔族、彝族人群VDR和HFE基因多态性分布

目的：研究不同民族的维生素D受体（VDR）基因多态性和血色素沉着症（HFE）基因突变的等位基因分布频率。方法：采用聚合酶链式反应（PCR）和Bsm I,Rsa I限制性酶切片段长度多态性（RFLP）方法，分析了206名维吾尔族人和142名彝族人的VDR基因Bsm I多态性和HFE基因C282Y突变及等位基因分布频率。结果：（1）VDR基因型分布：维吾尔族人群，bb基因型占42．0％，Bb基因型占45．4％，BB基因型占12．6％；彝族人群，bb基因型85．9％，Bb基因型占13．4％，BB基因型占0．7％。维吾尔族和彝族人群的VDR基因型分布存在非常显著性差异，维吾尔族人群的VDR B等位基因分布频率为35％，显著高于彝族人群的VDR B等位基因分布频率（7％）。（2）HFE基因型分布：维吾尔族人群中，正常基因型占97％，C282Y突变杂合子占3％，未检测到C282Y突变杂合和纯合基因型。维吾尔族和彝族人群的HFE基因型分布存在显著性差异，维吾尔族人群的HFE C282Y突变等位基因分布频率（1．5％）高于彝族人群的HFE C282Y突变等位基因分布频率（0％）。（3）ALAD基因型与VDR基因型间相关分析：维族人群上述两基因的基因型间未见明显相关，但是在彝族人群中，携带ALAD1－1基因型的个体更有可能携带VDR bb基因型（OR＝4．41，95％的可信限范围为0．60－28．22）。结论：维吾尔族人群的VDR基因Bsm I多态性等位基因和HFE基因C282Y突变等位基因分布频率与文献报道的高加索人群相近。彝族人群VDR基因Bsm I多态性等位基因和HFE基因C282Y突变等位基因分布频率与文献报道的亚洲人群相近。VDR和HFE基因在维吾尔族和彝族人群中的分布均存在明显的种族差异。彝族人群中发现ALAD基因型与VDR基因型间可能存在关联。     

530例中国汉族人口δ-氨基乙酰丙酸脱水酶基因多态性分析

目的 了解汉族人口中δ-氨基乙酰丙酸脱水酶(ALAD)等位基因和基因型的分布的背景资料。方法 采集530名中原地区汉族人口的血液样品,采用聚合酶链反应-限制性片段长度多态性方法对ALAD基因多态性进行基因分析。结果 在中国汉族人口中ALAD1-1纯合子基因型占93．58％,ALAD1-2杂合子占6．23％,而ALAD2-2纯合子仅占0．19％。ALADl和ALAD2等位基因频率分别为0．967和0．033。结论 中国汉族人口的ALAD2等位基因频率与献报道的亚洲人群的结果相近,而低于高加索人口。     

δ-氨基乙酰丙酸脱水酶基因多态性对职业铅接触工人血铅和锌原卟啉的影响

[目的 ]研究δ 氨基乙酰丙酸脱水酶 (ALAD)基因多态性对职业铅接触工人血铅 (PbB)和锌原卟啉 (ZPP)的影响。 [方法 ]采集 170名上海市某蓄电池厂职业铅接触工人外周静脉血样 ,多聚酶链式反应 (PCR)和限制性内切酶 (MspⅠ )限制性片段长度多态性 (RFLP)方法进行ALAD基因分型分析 ,用PE 80 0型原子吸收分光光度计和ZPP 3 80 0型血液锌原卟啉测定仪分别测定PbB和ZPP含量 ,并分析其与基因型的关系。 [结果 ]①ALAD11纯合子基因型者有 15 4名 ,占90 5 9% ;ALAD12杂合子基因型者有 16名 ,占 9.41% ;未检出ALAD2 2纯合子基因型者 ;②ALAD1和ALAD2等位基因分布频率分别是 95 .2 9%和 4.71% ;③在同等外暴露条件下 ,ALAD12杂合子基因型组工人血铅水平 ( 1.0 4± 0 .48μmol/L)明显高于ALAD11纯合子基因型组工人血铅水平 ( 0 .78± 0 .3 4μmol/L) ,且差异有统计学意义 ;④ALAD12基因型工人锌原卟啉(ZPP)含量比ALAD11基因型者稍低 ,但差异没有统计学意义 ,前者为 ( 0 .42± 0 .2 4) μmol/L ,后者为 ( 0 .46± 0 .41) μmol/L。[结论 ]ALAD2等位基因频率与文献报道的亚洲人群的结果相近 ,符合Hardy Weinberg平衡 ,在同样职业铅暴露环境下 ,具有ALAD2等位基因的工人血铅水平增高 ,ALAD2等位基因可加重工人体内的铅     

四川彝族人群HIV-1辅助受体CCR5△32和CCR2-64I基因多态性分析

目的了解中国四川彝族人群艾滋病病毒-1(HIV-1)辅助受体CCR5△32和CCR2．64I基因多态性特点。方法提取119份彝族正常人和88份HIV-1感染人群外周血基因组DNA。用聚合酶链反应(PCR)方法检测CCR5△32突变,阳性产物经克隆、测序进一步证实;用PCR-限制性片段长度多态性技术检测CCR2．64I突变,并测序验证。结果119份正常人样本中,CCR5 wt／△32等位基因突变杂合子2例(1．68％),未检测到CCR5△32／△32突变纯合子,CCR5△32等位基因频率为0．0084;CCR2-64I突变杂合子26例(21．85％),突变纯合子2例(1．68％),等位基因频率为01261。88份HIV-1感染者样本中,未检测到CCR5△32突变;CCR2．64I突变杂合子12例(13．64％),突变纯合子7例(7．95％),等位基因频率为0．1327。统计分析表明,上述等位基因多态性在该群体中均呈Hardy-Weinberg平衡分布;两种等位基因的突变频率在正常人和感染人群中的差异均无统计学意义。结论研究获得了中国四川彝族人群CCR5△32、CCR2-64I等位基因多态性资料,结果有助于综合评估中国人群对HIV-1感染的遗传易感性,同时为深入研究HIV-1抗性基因在中国不同民族的HIV感染及发病机制中的作用奠定基础。     

中国维吾尔族和彝族人群δ-氨基乙酰丙酸脱水酶基因多态性与铅遗传易感性的关系

目的　探讨我国维吾尔族、彝族人群δ 氨基乙酰丙酸脱水酶 (ALAD)基因多态性与铅遗传易感性的关系。方法　采用多聚酶链式反应 (PCR)和限制性内切酶 (MspI)限制性片断长度多态性(RFLP)方法分析 2 14名新疆维吾尔族人和 14 4名云南彝族人的ALAD基因多态性及等位基因分布 ;运用单因素和多因素分析探讨了维吾尔族和彝族人群ALAD基因多态性与血铅水平的相关关系 ,及影响血铅水平的因素。结果　维族人群ALAD1和ALAD2 等位基因分布频率分别是 0 .91和 0 .0 9;彝族人群ALAD1和ALAD2 等位基因频率分别是 0 .98和 0 .0 2。维族人群的血铅均值为 (76± 4 ) μg/L ,血铅≥10 0 μg/L的比例为 2 5 .7% ;彝族人群的血铅均值为 (5 0± 16 ) μg/L ,血铅≥ 10 0 μg/L的比例为 6 .3%。未见本研究人群ALAD等位基因的多态性与血铅水平有相关关系。结论　ALAD基因多态性对铅毒性影响的方式可能与机体铅的负荷量密切相关     

渔民apoB基因3等位基因多态性与血脂水平关系

目的 研究海岛地区渔民人群载脂蛋白B（apoB)基因3′端高可变区等位基因的多态性与血脂水平的关系。方法 采用聚合酶链反应和聚丙烯酰胺梯度凝胶电泳方法分析PCR产物。比较不同基因型人群血脂水平的差异。结果 247份DNA样品中分离到10种等位基因，其频率分布以HVE32和HVE34最为常见，其基因频率为44．33％和33．6％。BS基因型人群apoC3及apoc2水平略低于SS基因型人群，apoB基因杂合子人群其apoB及apoC2水平高于纯合子人群。结论 渔民人群apoB基因3′高可变区（VNTR）等位基因多态性具有基因种类少，大等位基因频率较低等特点。     

δ-氨基-γ-酮戊酸脱水酶基因多态性与维吾尔族、汉族儿童铅中毒遗传易感性

目的探讨维吾尔族和汉族儿童δ-氨基-γ-酮戊酸脱水酶(ALAD)基因多态性及其与铅中毒遗传易感性的关系。方法PCR-RFLP方法对新疆乌鲁木齐市的维吾尔族443名和汉族469名儿童ALAD基因多态性进行分析。应用单因素和多因素分析探讨了维吾尔族和汉族儿童ALAD基因多态性与血铅水平的关系,及影响血铅水平的因素。结果在维吾尔族人群中,ALAD1和ALAD2等位基因频率分别为90.52%和9.48%;在汉族人群中,ALAD1和ALAD2等位基因频率分别为95.73%和4.27%;两者差异有统计学意义(P<0.01)。维族儿童血铅浓度为(55.86±2.23)μg/L,铅中毒流行率为23.25%;汉族儿童血铅浓度为(53.05±2.24)μg/L,铅中毒的流行率为23.31%,两民族血铅水平和铅中毒流行率之间均无统计学意义(P>0.05)。结论维吾尔族和汉族儿童ALAD基因多态性与血铅水平间无相关关系。     

ALAD基因多态性对职业铅接触工人甲状腺激素水平的影响

[目的]研究δ-氨基乙酰丙酸脱水酶（ALAD）基因多态性对职业铅接触工人甲状腺激素水平的影响。[方法]采集171名上海市某蓄电池厂职业铅接触工人外周静脉血样，用放射免疫测定法（RIA）测定工人甲状腺激素水平，包括T3、FT3、T4、FT4和TSH。聚合酶链反应-限制性片段长度多态性（PCR—RFLP）对ALAD基因进行分型分析，限制性内切酶为MspⅠ，并分析甲状腺激素水平与ALAD基因型的关系。[结果]171名工人中ALAD1-1纯合子基因型工人156名，基因型频率为91．23％；ALAD1-2杂合子基因型工人15名，基因型频率为8．77％；未检测出有ALAD2-2纯合子基因型工人。等位基因ALAD1和ALAD2的频率分别为95．61％和4．39％。协方差分析，ALAD1-2基因型工人PbB水平为1．06（0．87-1．24）μmol／L，明显比ALAD1-1基因型工人PhB水平0．77（0．72—0．83）μmol／L高，（F=8．14，P〈0．05）。高血铅组工人（PbB≥0．97μmol／L）与低血铅组工人（PbB〈0．97μmol／L）相比，甲状腺激素中除了FT4水平略有升高以外，T3、FT3、T4和TSH均是高血铅组工人低干低血铅组工人。ALAD1-2基因型组工人和ALAD1-1基因型组工人相比．T3、FT3和TSH的水平下降比较明显，而T4和FT4水平没有很大差异或是略有升高。低血铅组和高血铅组，都是ALAD1-2基因型工人的T3、FT3和TSH比ALAD1-1基因型工人的低，而T4和FT4的平均水平差不多或是略有升高。[结论]ALAD2等位基因可使工人体内血铅水平增高，增加体内铅负荷；在相同铅负荷下，ALAD2等位基因有加重铅对工人甲状腺功能影响的趋势，但需要扩大样本量进行验证。     

Aγ-珠蛋白基因DNA多态性研究

目的：研究Aγ-珠蛋白基因的多态性。方法：采用PCR-RFLP技术对35例日本人Aγ-珠蛋白基因领域DNA多态性进行了检测。结果：Aγ-Gg*1纯合子表型频率为0.1143，Aγ-Gg*2纯合子表型频率是0.2857，Aγ-Gg*1/ Aγ-Gg*2杂合子表型频率是0.60，Aγ-Gg*1基因频率0.4143，Aγ-Gg*2基因频率0.5857，而所有基因座经检验均符合Hardy-Weinberg平衡。结论：该扩增体系在日本人群等位基因分布较好。     

张家口市汉族围孕期女性细胞色素P450和谷胱甘肽硫转移酶基因多态性分析

目的了解河北省张家口市汉族围孕期女性细胞色素P450 1A1基因(CYP1A1)和谷胱甘肽硫转移酶基因M1(GSTM1)、T1(GSTT1)和P1(GSTT1)多态性分布特征。方法选取2018年8月-2020年10月在张家口市妇幼保健院进行围孕期保健的327名汉族健康女性为研究对象。采集口腔黏膜上皮脱落细胞,提取基因组DNA。使用荧光定量PCR方法检测CYP1A1、GSTM1、GSTT1和GSTP1基因多态性,并进行统计分析。结果 CYP1A1 Ile462Val基因位点野生纯合子AA基因型频率为64.2%,突变杂合子AG基因型频率为30.9%,突变纯合子GG基因型频率为4.9%,A等位基因频率为79.7%,G等位基因频率为20.3%;GSTP1 A313G基因位点野生纯合子AA基因型频率为59.3%,突变杂合子AG基因型频率为35.5%,突变纯合子GG基因型频率为5.2%,A等位基因频率为77.1%,G等位基因频率为22.9%; GSTM1缺失基因型频率为46.5%,非缺失基因型频率为53.5%,GSTT1缺失基因型频率为41.6%,非缺失基因型频率为58.4%。结论获取张家口市汉族围孕期女性细胞色素P450基因和谷胱甘肽硫转移酶系相关基因多态性的群体遗传学特征,其中GSTM1和GSTT1相关基因位点缺失人群占比较高,此类人群对环境毒物的解毒能力低下,更应主动规避不良环境暴露,并采用个体化营养干预来抵抗环境毒物带来的不良后果。     

The human drama of genetics: 'hard' and 'soft' media representations of inherited breast cancer

This paper examines media coverage of 'breast cancer genetics', and explores its implications for public understanding. We present a content analysis of coverage in British newspapers and look at a variety of popular forms, including women's magazines, television soap opera and radio drama. Genetic/inherited risk receives a great deal of coverage across a wide range of media formats and outlets. Much of this attention has focused on individuals from 'high risk families' and dilemmas around prophylactic mastectomies. Through examining media coverage, combined with interviews with media personnel and their sources, we show why this story proved so attractive to the media and highlight the different production values which influence coverage. Finally, we introduce preliminary findings from focus group discussions to demonstrate how such 'human interest' framing has engaged audience attention and influenced public understandings. The paper concludes by highlighting the implications for analysing, predicting, and engaging with, media representations of science.     

Worker education in the primary prevention of occupational dermatoses

This paper reports the evaluation of a skin care education programmeconducted on a fine chemicals manufacturing site where over1,000 employees are located. Approximately 60% are involvedin chemical manufacture. Over a 12 month period production staffreceived training in prevention of occupational dermatoses linkedto a site-wide poster initiative. The incidence of new casesof occupational dermatoses fell from 0.055 (70 cases in 1,277employees) to 0.021 (27 cases in 1,277 employees) before andafter the intervention respectively (p<0.0001). After otherfactors such as chemicals handled, observer bias and changesin reporting related to socioeconomic climate were taken intoaccount it is concluded that this study demonstrates the importanceof worker education as a tool for primary prevention of disease.Training materials such as video and poster presentations maybe effectively used in the chemical manufacturing industry asan adjunct to prevention and control of exposure to substanceshazardous to the skin. Such methods may also be used in otherindustries where there are significant risks of dermatoses.     

Regional Variation in Travel-related Illness acquired in Africa,March 1997–May 2011

To understand geographic variation in travel-related illness acquired in distinct African regions, we used the GeoSentinel Surveillance Network database to analyze records for 16,893 ill travelers returning from Africa over a 14-year period. Travelers to northern Africa most commonly reported gastrointestinal illnesses and dog bites. Febrile illnesses were more common in travelers returning from sub-Saharan countries. Eleven travelers died, 9 of malaria; these deaths occurred mainly among male business travelers to sub-Saharan Africa. The profile of illness varied substantially by region: malaria predominated in travelers returning from Central and Western Africa; schistosomiasis, strongyloidiasis, and dengue from Eastern and Western Africa; and loaisis from Central Africa. There were few reports of vaccine-preventable infections, HIV infection, and tuberculosis. Geographic profiling of illness acquired during travel to Africa guides targeted pretravel advice, expedites diagnosis in ill returning travelers, and may influence destination choices in tourism.     

The design of hazard risk assessment matrices for ranking occupational health risks and their application in mining and minerals processing

Two hazard risk assessment matrices for the ranking of occupational health risks are described. The qualitative matrix uses qualitative measures of probability and consequence to determine risk assessment codes for hazard-disease combinations. A walk-through survey of an underground metalliferous mine and concentrator is used to demonstrate how the qualitative matrix can be applied to determine priorities for the control of occupational health hazards. The semi-quantitative matrix uses attributable risk as a quantitative measure of probability and uses qualitative measures of consequence. A practical application of this matrix is the determination of occupational health priorities using existing epidemiological studies. Calculated attributable risks from epidemiological studies of hazard-disease combinations in mining and minerals processing are used as examples. These historic response data do not reflect the risks associated with current exposures. A method using current exposure data, known exposure-response relationships and the semi-quantitative matrix is proposed for more accurate and current risk rankings.     

Psychopathological features of a patient population of targets of workplace bullying

BACKGROUND: A strong association between workplace bullying and subsequent anxiety and depression, indicated by empirical research, suggests that bullying is an aetiological factor for mental health problems. AIMS: To evaluate levels of stress and anxiety-depression disorder developed by targets of workplace bullying together with outcome at 12 months and to characterize this population in terms of psychopathology and sociodemographic features. METHODS: Forty-eight patients (36 women and 12 men) meeting Leymann Inventory of Psychological Terror criteria for bullying were included in a prospective study. Evaluations were performed at first consultation and at 12 months using a standard clinical interview, a visual analogue scale of stress, the Hospital Anxiety and Depression (HAD) scale, the Beech scale of stress in the workplace and a projective test (Picture-Frustration Study). RESULTS: At first consultation, 81% of patients showed high levels of perceived stress at work and 83 and 52% presented with anxiety or depression, respectively. At 12 months, only 19% of working patients expressed a feeling of stress at work. There was a significant change in symptoms of anxiety while there was no change in symptoms of depression. Stress at work and depression influenced significatively capacity to go back to work. At 12-month assessments, workers showed a significantly better score on the HAD scale than non-workers. Over half the targets presented a neuroticism-related predominant personality trait. CONCLUSION: Workplace bullying can have severe mental health repercussions, triggering serious and persistent underlying disorders.     

The rise and fall in incidence of malignant mesothelioma from a British Naval Dockyard, 1979-1999

BACKGROUND: The incidence of malignant mesothelioma in Britain is predicted to rise over the next 15-25 years because of past failure to protect the workforce against inhalation of asbestos. In British Naval dockyards, alternative insulation materials and respiratory protection were introduced from the mid-1960s. Aims This study was carried out to investigate the effects of these control measures on mesothelioma deaths in dockyard workers. METHODS: Cases of mesothelioma of the pleura and peritoneum between 1979 and 1999 in workers from the Devonport Naval Dockyard, south-west England, were sought from coroners' and medico-legal records. RESULTS: Three hundred and one cases were identified, 7% peritoneal. The peak incidence occurred in 1991 with 25 cases per annum (quadratic model fit R(2) = 74.2%, P < 0.001) and we predict that by 2003 the incidence will fall to fewer than five cases per annum. The mean time between first exposure and presentation was 48.5 years [95% confidence interval (CI) = 47.3-49.8], but this was significantly shorter in the more heavily exposed trades, when compared with the less heavily exposed (42 years, 95% CI = 39.0-45.0, versus 49.5 years, 95% CI = 48.2-50.9). Those with higher exposure were also at significantly greater risk of peritoneal disease (P < 0.023, Fisher's exact test). CONCLUSION: The reduction in incidence of mesothelioma is greater than can be accounted for by reduction in numbers of dockyard workers over the last 50 years. Changes in insulation materials and improved industrial hygiene measures introduced into the Devonport Dockyard from the mid-1960s have resulted in an earlier decline in the incidence of malignant mesothelioma than that predicted for the British workforce as a whole.     

Organophosphate toxicity and occupational exposure

The ubiquitous organophosphates present a continuing health hazard in agriculture, public health eradication programmes and as chemical warfare agents. Despite significant progress in understanding the potential mechanisms of toxicity far beyond the commonly accepted mechanism of cholinesterase inhibition in intentional exposures, the precise health effects following occupational exposures are yet to be completely defined. A much greater understanding exists of the clinical features of organophosphate poisoning. These are characterized by a triphasic response involving an initial acute cholinergic phase, an intermediate syndrome (both associated with high mortality) and a disabling but non-lethal delayed polyneuropathy. The delayed polyneuropathy may occur in the absence of the cholinergic or intermediate phases. However, progress is still required in order to improve the quantification and assessment of occupational exposures and the implementation of appropriate preventive measures. Finally, evidence-based guidelines for appropriate or optimal therapeutic interventions following poisoning are required urgently and collaborative work with colleagues in developing countries, where the occurrence of organophosphate exposures is more frequent, may provide the answers.     

Miliaria rubra of the lower limbs in underground miners

This report documents a case series of miliaria rubra of the lower limbs in miners at a deep underground metalliferous mine in tropical arid Australia. During the summer months of February and March 1999, all cases of miliaria rubra of the lower limbs in underground miners seen at the mine's medical centre were clinically examined and administered a questionnaire. Twenty-five patients were seen, an incidence of 56.4 cases per million man-hours. Miliaria rubra was most often located between the ankle and knee (88% of cases). Twenty-four percent had concurrent folliculitis and 20% had concurrent tinea. Thirty-two percent had a personal history of asthma. Walking through ground-water and splashing of the legs was common. Three to 4 weeks of sedentary duties in air conditioning was generally required to achieve resolution of miliaria rubra. The incidence of miliaria rubra of the lower limbs is 38% of the incidence of heat exhaustion at the same mine. The length of disablement is greater, however. Atopics may be at increased risk of miliaria rubra. Control measures are discussed.     

Planning research

The starting point for any research project should be a question.Once this has been defined and the relevant scientific literaturereviewed, a protocol should be drawn up. This will be used notonly as a guide to the conduct of the study and in the preparationof the final report, but also in seeking any financial supportand approvals that are required for the investigation. A protocolis normally arranged in sections covering the background tothe study, the question(s) that it will address, the methodsthat will be used for the collection and analysis of data, thestatistical power of the investigation (where relevant), anyethical considerations, and the financial input that will beneeded. A pilot study is often helpful where aspects of thestudy method are untried or of uncertainvalidity.     

Stress in the Norwegian police service

BACKGROUND: High levels of stress have been attributed to the conditions of police work, but there is little empirical evidence for this. AIMS: To develop a new instrument to measure job stress in the police; to assess the most severe and frequent police stressors; to compare levels of stress according to the demographic and organizational factors; and to study stress in relation to personality traits, work locus of control and coping strategies. METHODS: A comprehensive nationwide questionnaire survey of 3272 Norwegian police at all hierarchical levels, including the Norwegian Police Stress Survey (NPSS), the Job Stress Survey, the Basic Character Inventory, the Work Locus of Control Scale, and the Coping Strategies Scale. RESULTS: Work injuries were appraised as the most stressful but least frequent stressor and job pressure was reported the least severe but most frequent stressor. Females experienced job stressors less frequently, but appraised them as more severe than men did. Older police officers reported more job pressure severity and fewer work injuries. The police in districts where peer support was planned but not implemented, and who worked in districts with more than 50,000 inhabitants, perceived the lack of support more severely than others. The correlations between stress and personality traits, work locus of control, and coping were moderate. CONCLUSIONS: The NPSS captures police-specific stressors that are not adequately measured by global stress instruments. The study of stress in police work should preferably involve a nationwide use of police-specific stress instruments.