基于核心家系的XRCC1基因多态性与鼻咽癌易感性的关联分析

目的 利用以核心家系为基础的关联研究探讨X射线修复交叉互补基因1(XRCC1)多态性与鼻咽癌易感性之间的关系.方法 收集457个广东鼻咽癌核心家系(包含2134名成员)作为研究对象.每一个家系由父母和至少有1名患鼻咽癌的子女构成.采用聚合酶链反应-限制性片段长度多态性方法对XRCC1基因中3个单核苷酸多态性(SNP)位点(其参考SNP编号分别为rs1799782、rs25489和rs25487)进行基因分型.运用家系为基础的相关性检验(family-based association test,FBAT)软件分析这3个SNP位点基因型及单体型与鼻咽癌易感性之间的关联性.结果 FBAT 分析结果显示:XRCC1基因的3个SNP位点基因型及单体型与鼻咽癌的易感性之间无显著相关性(rs1799782:x2=1.006,P=0.605;rs25489:x2=0.470,P=0.790;rs25487:x2=2.563,P=0.278;单体型:x2=3.004,P=0.557;全局统计).基于显性或隐性模式下,rs25487位点等位基因G或A从亲代传递给子代具有增加或减少的传递(Z=1.985/-1.985,P=0.047);然而,全局统计以及基于累加模式下并没有观察到传递的增加或减少.结论 以家系为基础的相关性研究没有发现XRCC1基因多态性与鼻咽癌的易感性之间具有显著相关性.     

细胞色素P450 CYP1A1基因多态与鼻咽癌易感性的关联分析

Objective To investigate the association between CYP1A1 gene polymorphisms and susceptibility of nasopharyngeal carcinoma in Cantonese nuclear families through family-based association study. Methods A total of 457 Cantonese nuclear families, consisting of 2134 members, were recruited as subjects. Each family included two parents and at least one offspring with nasopharyngeal carcinoma. Two single nucleotide polymorphisms (SNP) in CYP1A1 named m1 (rs4646903) and m2 (rs1048943) , were genotyped by PCR-RFLP assay and verified by directly sequencing. The genotype data were analyzed with family-based association test (FBAT) software to check the linkage and association between the two genetic markers and susceptibility of nasopharyngeal carcinoma. Results FBAT analysis showed that the minor allele frequencies (MAF) of the two SN P were 0. 442 (C) and 0. 339 (G) respectively. For m1 polymorphism in CYP1A1 gene was not significantly associated with nasopharyngeal carcinoma in our study population whether stratified with VCA-IgA or not (without stratification : X2=2. 399, P=0. 301 ; with stratification : Iow-titer group (VCA-IgA<1 : 80), MAF=0. 457 (C), X2=1.221, P=0.543 ; high-titer group (VCA-IgA ≥1 : 80), MAF=0. 427 (C), X2=2. 832, P=0. 243). For m2 polymorphism, when VCA-IgA<1 : 80, the G allele showed decreased transmission under additive and dominant model (MAF=0. 347 (G) ; Zadditive=-2. 120,Padditive=0. 034;Zdominant=-2. 303,Pdominant=0.021)and a boundary P value was got with global statistic (X2=5. 394, P=0. 067). Haplotype TG (0. 057), constructed by ml and m2, might decrease nasophargneal carcinoma risk (Z=-2. 002,P=0. 045). A boundary P value was also got with global statistic (X2=7. 067 ,P=0. 070). Conclusion There was no statistical significance between ml polymorphism and susceptibility of nasopharyngeal carcinoma in Cantonese nuclear families. And this study showed that m2 polymorphism might associated with the decrease of nasopharyngeal carcinoma in Cantonese nuclear families.     

家庭医师整合型服务及其医保支付制度:台湾地区的经验与启示

台湾地区的全民健保紧密围绕基层诊所和家庭医师核心功能,探索实践了家庭医师整合型照护计划,其以医保带动医疗服务体系整合的经验值得借鉴。本文首先从卫生筹资、医保支付制度、服务体系结构与市场化制度安排等方面,简要概括了台湾地区医疗卫生体制和基层医疗卫生服务体系概况。其次,对台湾地区"家庭医师整合型照护计划"的政策目标、组织结构、运行机制、服务模式、医保支付制度等方面进行全面介绍,对其经验进行归纳总结。最后提出,在我国卫生服务整合实践中,应以全科医生核心功能服务作为出发点和落脚点,系统设计整合服务计划,力争医疗与医保部门政策协同,提供资金资源和政策资源支撑,保障家庭医生制度和整合的卫生服务深入持续开展。     

最好的医生是自己

<正>机器旧了、坏了,需要经常除锈、上油、疏通、修理;人同此理,人生病了,需要吃药、打针、动手术——这就是治疗。特别是在科学技术越来越发达的今天,只要我们每个人能做到平时积极预防,有病坦然面对、正确治疗,就可以做到健康、快乐、长寿。很多人都对健康的四大基石了如指掌:合理膳食、适量运动、戒烟限酒、心理平衡。然而,现实生活中有不少人依旧在不健康的生活方式中"埋头苦干",吸烟、喝酒、大     

肝癌1号染色体等位基因杂合性缺失及临床意义

研究肝癌１号染色体等痊基因杂合性缺失（Ｌｏｓｓ ｏｆ ｈｅｌｅｒｏｚｙｇｏｓｉｔｙ,ＬＯＨ）及临床意义。方法采用ＰＣＲ及微卫星多态技术,对６５例肝癌１号染色体上２８个微卫生标志位点杂合性缺失进行检测。结果：６５例肝癌中６３例为杂合子,５７例至少在１个微卫星标志位点上发生ＬＯＨ,１号染色体ＬＯＨ率为９１％（５７／６３）,１ｐ７６％（４８／６３）,１ｑ８８％（５２／５９）;１ｐ３６．３２－ｐ３６．３３     

鼻咽癌高癌家族的监控和筛查

目的：通过对高癌家族成员的有效监控,探索筛查无明显症状的早期鼻咽癌病人的方法,以提高鼻咽癌早期发现、早期诊断和早期治疗。方法：选择在两代人中有３个以上鼻咽癌患者的“高癌家系”作为本组“监控家系”,对其有血缘关系的亲属（１～３级亲属）共１２１人作为本组的监控对象,对他们进行详细的鼻咽及头颈部临床检查、ＥＢ病毒血清学抗体检测、血标本作基因定位检测。定期（约６个月）进行追踪复查,对有可疑患癌者即作鼻咽光