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.     

广西三江县侗族新生儿UGT1A1基因变异分析北大核心CSCD

目的探讨广西柳州三江县侗族新生儿UGT1A1基因变异特点及其与侗族新生儿高胆红素血症发生的关系。方法前瞻性选取2021年1月至2022年1月于三江县人民医院新生儿科诊断不明原因高胆红素血症的新生儿84例为研究对象;另选取同期健康新生儿60例纳入健康对照组。提取两组新生儿外周血基因组DNA,对UGT1A1启动子区TATA盒和外显子1进行PCR扩增并进行基因测序。结果病例组检测出33例G71R错义突变,突变率为39%,A等位基因频率(21%)显著高于健康对照组(10%)(P<0.05)。携带G71R错义突变基因型的侗族新生儿发生高胆红素血症的风险是携带野生型的健康新生儿的2.588倍(P<0.05)。Hardy-Weinberg遗传平衡检验结果提示两组新生儿UGT1A1 G71R位点基因型符合遗传平衡(P>0.05)。结论UGT1A1 G71R突变是三江县侗族新生儿高频基因变异类型,且G71R错义突变与侗族新生儿发生高胆红素血症相关。     

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).     

海南文昌城市汉族成人Heath-Carter法体型观察

目的 探讨海南城市汉族体型特征。方法 采用Heath-Carter 人体测量体型方法,对海南文昌城市汉族成年人315例（男为150例,女为165例）进行体型评定。结果 1.海南城市汉族平均体型男性为内胚层-中胚层均衡体型（4.9-5.3-2.0）,女性为偏中胚层的内胚层体型（5.5-4.6-1.9）。2.随着年龄的增长,男性内因子值、中因子值显著增长,外因子值下降,尤以30岁前后这种变化最突出。女性体型30~39岁时较20~29岁身体的充实度有所提高,40~49岁以后则更加结实、丰满。3.男女间体型除20~29、30~39岁组存在显著性差异外,40~49岁以后男女体型差异不显著。4.与其他城市族群比较,海南城市汉族男女平均体型点与山东汉族最接近（男性SAD=0.60,女性SAD=0.40）。结论 海南城市汉族体型接近于中国北方族群。     

辽宁汉族6项不对称行为特征

目的 探讨辽宁汉族6项不对称行为特征的分布频率,为中国人体质调查积累资料。方法 在知情同意基础上,采用随机抽样方法,调查
了辽宁省锦州市380例（男186例,女194例）汉族健康成人的6项不对称行为（扣手、利手、交叉臂、交叉腿、利足、起步类型）。结果 辽宁汉
族扣手、利手、交叉臂、交叉腿、利足、起步类型右型（R型）率分别为52.37%、91.32%、45.53%、68.16%、92.89%、51.32%,均不存在性别差
异;除交叉臂外,其他5项均是R型高于左型（L型）。 辽宁汉族与蒙古族等15个民族R型率比较,其中有4项及以上不对称行为特征出现显著性
差异的有布依族、苗族、侗族、仫佬族。 聚类分析结果显示,辽宁汉族与蒙古族、鄂伦春族、鄂温克族等北方民族最为接近。辽宁汉族腿足特
征间的相关性优于手臂特征,且RR型组合的出现率明显高于LL型组合的出现率。结论 与国内外其他族群相比,辽宁汉族扣手、利手、利足、起
步类型R型率处于中等水平,交叉臂和交叉腿R型率处于较低水平。     

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.     

福建畲族成年男性DYS19、DYS389I、DYS393多态性与身高的关系

目的:探讨福建畲族男性DYS19、DYS389I、DYS393多态性与身高之间的关系.方法:调查福建畲族健康男性152例,测量其身高.应用AmpFlSTR(R) YfilerTM荧光标记复合扩增系统及自动测序法,对152例研究对象进行DYS19、DYS389I、DYS393的等位基因分型.结果:福建畲族成年男性的身高在DYS19、DYS389I基因座的不同基因型间差异有统计学意义,在DYS393基因座的不同基因型间无差异.结论:福建畲族DYS19、DYS389I的遗传多态性可能与福建畲族男性身高增长有关,DYS393对福建畲族男性身高影响不明显.     

线粒体DNA4个多态性与宁夏汉族乳腺癌无相关性

 目的 探讨线粒体DNA（mtDNA）np16 189、np16 223、np16 519和D310区多态性及其交互作用与宁夏汉族乳腺癌及其临床病理特征的相关性。方法 用病例-对照法和聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测195例乳腺癌患者和196例健康体检者各位点基因型,计算基因型频率,用χ2和OR（Odds ratio）检验分析单个、多个位点联合与乳腺癌的相关性,并分析各位点的基因型频率与乳腺癌临床病理特征的相关性。结果 1）mtDNA np16 189、np16 223和np16 519 3个位点的基因型频率在病例组和对照组中的分布无差异;D310区三种基因型在病例组高于对照组（OR=6. 6629,P＞0.05）,携带异质型的个体发生乳腺癌的危险性比携带突变型个体低（OR=0.216,95%CI为0.058～0.809）。2）4个多态性位点之间的交互作用在两组间无差异。3）4个多态性位点与乳腺癌临床病理特征间无相关性。结论 mtDNA np16 189、np16 223、np16 519和D310区及其交互作用与宁夏汉族乳腺癌无相关性。