子宫内膜癌及非典型增生患者血清载脂蛋白AI水平及其模拟肽L4F对子宫内膜癌细胞增殖的抑制作用

 目的 探讨在中国汉族人群中精神分裂症（schizophrenia,SCZ）患者中并发2型糖尿病（type 2 diabetes mellitus,T2DM）与五羟色胺2C受体（serotonin 2C receptor,5-HTR2C）基因多态性（rs2192371、rs5988072）的关联性。方法 纳入服用氯氮平伴有T2DM（共病组257例）或不伴有T2DM （单纯SCZ组288例）的长期住院SCZ患者,单纯T2DM患者（单纯T2DM组264例）以及正常人群（对照组625例）为研究对象,采用Taqman基因分型技术对5-HTR2C基因的单核苷酸多态性（single nucleotide polymorphism,SNP）位点（rs2192371、rs5988072）进行基因分型,比较各研究组的等位基因、基因型及单体型分布频率有无差异。结果 （1）单位点分析显示：共病组与对照组比较,rs2192371（χ²=19.799,df=2,P<0.001;χ²=7.437,df=1,P=0.006）和rs5988072 （χ²=28.682,df=2,P<0.001;χ²=24.127,df=1,P<0.001）基因型频率和等位基因频率分布差异均有统计学意义;单纯T2DM与对照组比较,rs2192371基因型频率分布差异有统计学意义（χ²=13.715,df=2,P=0.001）,而等位基因频率分布差异无统计学意义,rs5988072等位基因和基因型频率分布差异均有统计学意义（χ²=11.378,df=2,P=0.003;χ²=7.142,df=1,P=0.007）。单纯SCZ组与对照组相比,rs2192371基因型频率及等位基因频率分布差异均无统计学意义（P>0.05）,rs5988072基因型频率分布差异为边缘性（χ²=6.026,df=2,P=0.049）,而等位基因频率分布虽然有差异（χ²=4.964,df=1,P=0.025）,但经过Bonforrnie校正后无差异。而在SCZ患者中,共病组与单纯SCZ组相比,rs2192371 （χ²=11.279,df=2,P=0.003;χ²=8.061,df=1,P=0.004）和rs5988072 （χ²=7.013,df=2,P=0.030;χ²=5.931,df=1,P=0.014）基因型频率和等位基因频率分布差异均有统计学意义。（2）单体型分析显示：共病组和单纯SCZ组比较,由rs2192371-rs5988072组成的单体型AC （OR=1.351,χ²=5.841,P=0.015）和GT （OR=0.692,χ²=7.592,P=0.004）差异有统计学意义,单体型AT差异无统计学意义。共病组和单纯T2DM组比较,两组间单体型AC、GT和AT差异均无统计学意义。结论 在中国汉族人群中,SCZ并发T2DM与5-HTR2C基因多态性（rs2192371、rs5988072）存在关联,其可能是SCZ患者伴发T2DM的易感基因。     

贵州江口土家族男性葡萄糖-6-磷酸脱氢酶缺陷症的基因频率调查

目的 调查贵州省江口土家族男性葡萄糖-6-磷酸脱氢酶（G6PD）缺陷症的基因频率。方法 2002年10-11月随机选取227名江口当地土家族男性居民，采用四氮唑蓝（NBT）纸片定性法初筛G6PD缺陷症。G6PD／6PGD比值法定量确诊。结果 对贵州省江口县227名土家族男性进行筛查，共检出17例G6PD缺陷阳性。其基因频率为0．0749。结论 通过对贵州土家族G6PD缺乏症基因频率的调查和分析，初步了解了贵州省土家族G6PD缺乏症的分布特征。为该地区预防该疾病、指导临床、提高少数民族的素质及研究该民族起源提供了一定的依据。     

广西百色市苗族青少年脂肪发育和分布特点

目的:利用生物电阻抗法测量广西百色市苗族青少年身体各部脂肪含量的数值,探讨广西百色市苗族青少年脂肪分布特点与规律。方法:在知情同意的情况下,随机整群抽取广西百色市733例(女为303例,男为430例)11~17岁苗族健康青少年作为研究对象,应用体成分分析仪对所有受试者进行测量,所有数据均用SPSS 18.0统计软件进行统计学处理。结果:广西百色市苗族青少年各年龄段的脂肪总量、躯干脂肪量、四肢脂肪量,女性均大于男性。总体广西百色市苗族青少年的身体各部脂肪含量随年龄增长而增加,女性的增加趋势更加显著。结论:苗族青少年脂肪含量随年龄变化特点符合一般青少年发育的正常规律。苗族青少年脂肪发育和分布存在性别差异。     

贵州地区汉族人群GDF5基因单核苷酸多态性与成人终身高的关系

目的 探讨生长分化因子5(GDF5)基因rs143383、rs143384、rs6060369和rs224331位点单核苷酸多态性(SNPs)与贵州地区汉族人群成人终身高的相关性.方法 对贵州地区1 069例汉族健康体检者进行体格检查及问卷调查,收集抗凝血标本并提取DNA.用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF MS)方法检测GDF5基因的SNPs,并分析其与身高的相关性.结果 成年女性中,GDF5基因rs143383、rs143384、rs6060369和rs224331基因型分布可分别解释身高变异的1.4％、0.9％、1.1％和1.0％(P＜0.05);在GDF5基因rs143383和rs143384位点,携带GG基因型的个体平均身高均为最高,分别比AG和AA基因型个体高1.7 cm (P＜0.01)、2.3 cm (P＜0.05)和1.6 cm (P＜0.05)、2.1 cm(P＜0.01);在GDF5基因rs6060369位点,携带CC基因型的个体平均身高分别比CT和TT基因型个体高1.7 cm (P＜0.05)和2.2 cm (P＜0.01).但是在成年男性中未发现GDF5基因上述SNPs位点与身高的相关性.结论 GDF5基因单核苷酸多态性与贵州地区成年汉族女性身高有关,GDF5基因可能是影响中国汉族成人女性身高个体差异的基因.     

新疆维吾尔族、汉族结直肠癌患者中KRAS及BRAF基因突变差异及其与预后的关系研究

目的探讨新疆维吾尔族(维族)、汉族结直肠癌伴肝转移患者中KRAS基因及BRAF基因突变差异及其与临床病理特征和预后的关系。方法选择新疆医科大学第一附属医院2005年1月-2010年12月收治的100例新疆维、汉族结直肠癌伴肝转移患者,应用PCR及Pyrosequencing测序法检测分析KRAS基因及BRAF基因突变情况,分析其与临床病理特征和预后的关系。结果维、汉族结直肠癌伴肝转移患者的KRAS与BRAF基因突变率分别为28%(28/100)与5%(5/100)。50例汉族患者中KRAS基因突变18例,BRAF基因突变2例;50例维吾尔族患者中KRAS基因突变10例,BRAF基因突变3例。原发肿瘤组织学分级、区域淋巴结转移、脉管瘤栓、肝外侵犯或转移、KRAS和BRAF为结直肠癌的预后影响因素(P<0.05);多因素分析显示,脉管瘤栓(P=0.035)、KRAS基因(P=0.001)为结直肠癌的独立的预后因素。结论在新疆维、汉族结直肠癌伴肝转移患者中,脉管瘤栓及KRAS基因具有主要的预后价值。积极检测KRAS基因,可望延长患者生存期。     

Effect of manganese chloride and Verapamil on automaticity of digitalized Purkinje fibers.

The effects of manganese chloride (MnCl2) and verapamil on automaticity of digitlazied Purkinje fibers were studied using conventional microelectrode techniques. The stduied wer made in isolated, spontaneously beating Purkinje prearations. Quabain alone consistently increased the automatic rate, whereas no such increase was observed when the preparations were superfused with a mixture of ouabain adn MnCl2. MnCl2 was also shown to be effective is suppressing the enhanced automaticity induced by ouabain. Mncl2 alone did not have a significant effect on the spontaneous rate of Purkinje fibers. The effect of verapamil was similar to that of MnCl2 in preventing and suppressing the ouabain-induced increase in automaticity. MnCl2 and verapamil have been shown to inhibt tha slow inward calcium current of cardiac fibers. The results therefore suggest that an inward calcium ion current may play a role in the development of digitalis-induced increase in the stope of phase 4 depolarization in Purkinje fibers.     

藏汉两族人群内皮功能差异的研究

目的:探讨藏汉两族人群内皮功能(FMD)的差异。方法:在空腹状态下,使用B型超声对272例藏族男性和580例汉族男性进行肱动脉舒张功能检测。对比两组人群各项基本指标和FMD变化。结果:藏族人群肱动脉直径的绝对和相对变化低于汉族人群(P<0.001)。结论:藏汉两族人群内皮功能存在差异。     

Association between IL1B polymorphisms and the risk of rheumatoid arthritis

Rheumatoid arthritis (RA) is a chronic, inflammatory synovitis dominated systemic disease with unknown etiology. The purpose of this study was to determine the relationship between IL1B polymorphisms and RA risk in a Chinese Han population. Four single-nucleotide polymorphisms (SNPs) of IL1B, rs2853550, rs1143643, rs3136558 and rs16944 were genotyped in 508 RA cases and 494 healthy controls using the Agena MassARRAY method. A genetic model analysis was performed to evaluate the relationships between the variants and RA risk. Haplotype analysis was used to evaluate the potential relationship between the genetic block and RA risk. We determined that rs1143643 was linked to a reduced risk of RA based on the results of the co-dominant model (OR = 0.67, 95%CI: 0.50–0.89, p = 0.006) and the dominant model (OR = 0.73, 95%CI = 0.56–0.96, p = 0.025). On the other hand, rs16944 was associated with an increased risk of RA in the co-dominant model (OR = 1.71, 95%CI = 1.53–1.97, p = 0.029) and the recessive model (OR = 1.41, 95%CI = 1.05–1.88, p = 0.021). Among individuals older than 50 years, we observed that rs2853550 was associated with an increased risk of RA, and that rs1143643 decreased RA risk. Furthermore, rs1143643 was associated with a decreased RA risk in female patients. However, rs16944 increased RA risk in both the co-dominant and the additive models in different age subgroups. In addition, rs16944-GA increased RA risk in males in the co-dominance model and rs16944-AA increased RA risk in females in the additive model. These results suggested that rs2853550, rs1143643, and rs16944 in the IL1B gene are associated with RA risk.     

Forensic characteristics and phylogenetic analysis of the Chinese Han population from Chongqing Municipality,Southwest China

Chongqing Han is an important southern Han group, but investigations on its paternal genetic structure are still limited. Here, we analyzed the forensic and phylogenetic characteristics of the Chongqing Han population based on 27 Y-STR and predicted Y-SNP markers. Based on AMOVA, haplogroup distribution and network analysis, we explored the genetic relationship between Chongqing Han, other Chinese groups and some southern indigenous groups (speaking Kra-Dai, Austronesian, etc).     

武陵山区土家族儿童少年体表面积分析

目的:探讨武陵山区土家族儿童少年体表面积的发育规律.方法:采用人体测量学的方法,对武陵山区1 865例土家族儿童少年(男953例,女912例)的身高、体质量进行测量,用Stevenson公式和胡咏梅公式分别计算学生的体表面积.结果:土家族儿童少年体表面积随年龄增长而增长;男、女生体表面积发育曲线呈上升趋势并出现双交叉现象;胡咏梅法计算的体表面积值大于Stevenson法.结论:武陵山区土家族儿童少年体表面积的发育规律与其他民族学生的基本一致,但整体发育水平低于达斡尔族、侗族学生.两种方法计算的儿童少年体表面积值有差异.