Y染色体DYS287位点在白裤瑶族群体中的检测分析

目的调查广西白裤瑶族群体中DYS287基因位点的遗传多态性分布。方法采用聚合酶链反应结合琼脂糖凝胶电泳检测方法对132例白裤瑶族、149例壮族、172例汉族样本DYS287位点多态性进行检测分析。结果 132例白裤瑶族、149例壮族和172例汉族男性个体检测结果均为YAP-,未检出YAP+扩增产物。结论获得广西白裤瑶族DYS287基因座的遗传学多态性数据,为不同地域不同瑶族群体遗传关系的分析、法医鉴定及不同地域瑶族群体之间的起源关系差异提供了一定的遗传背景资料。     

Angiographic diagnosis of posterior mitral valve leaflet prolapse

The left ventricular cineangiograms of 22 asymptomatic, apparently healthy male aviators without noninvasive (echocardiographic or auscultatory) evidence of mitral valve prolapse were reviewed and compared with those of 12 men with noninvasive evidence of mild mitral valve prolapse. The maximal protrusion of the posterior mitral valve leaflet superior and posterior to a line perpendicular to the long axis of the left ventricle at end-systole was measured from the right anterior oblique left ventricular cineangiogram by repeated observation of left ventricular inflow. The values were 7.5 +/- 1.6 mm in patients without mitral valve prolapse and 11.2 +/- 3.4 mm in patients with mitral valve prolapse (mean +/- 1 standard deviation). This measurement did not exceed 11 mm in any patient without prolapse. It is concluded that: 1) with meticulous attention to angiographic landmarks of the left ventricular inflow area, the limits of normal systolic posterior mitral leaflet motion can be defined; and 2) systolic motion outside these limits constitutes a quantitative criterion for the angiographic diagnosis of mitral valve prolapse.     

Right-Sizing Technology in the Era of Consumer-Driven Health Care

Technology for modern clinical and public health microbiology laboratories has evolved at an impressive rate over the last two decades. Contemporary diagnostics can rapidly provide powerful data that can impact patient lives and support infectious disease outbreak investigations. At the same time, dramatic changes to health care delivery are putting new pressures on a system that is now focusing on patient-centric, value-driven, convenient care. For laboratories, balancing all these demands in a cost-contained environment remains a challenge. This article explores the current and future directions of diagnostics in our dynamic health care environment.     

葛根芩连汤调控微RNA-542-3p对溃疡性结肠炎的保护机制

目的:探讨葛根芩连汤上调微RNA-542-3p(miR-542-3p)表达保护溃疡性结肠炎(UC)大鼠的机制研究。方法:选取8~10周龄SD大鼠经UC造模及鉴定后分成模型组、美沙拉嗪组、葛根芩连汤低剂量、中剂量、高剂量组,同批次等体质量健康大鼠作为空白对照组,每组16只。UC结肠细胞进入对数生长期后消化传代至24孔板培养,每孔加入2×105个细胞,用Lipofectamine 3000转染miR-NC、miR-542-3p、anti-miR-NC、anti-miR-542-3p质粒至UC大鼠结肠上皮细胞并分组,miR-NC、miR-542-3p组细胞经含10%生理盐水处理24 h,而anti-miR-NC、anti-miR-542-3p组用含10%葛根芩连汤处理24 h,处理结束后分析细胞上清液炎症介质和氧化应激相关指标的变化。酶联免疫吸附试验法(ELISA)检测大鼠结肠组织和细胞肿瘤坏死因子-α(TNF-α)、白细胞介素-6(IL-6)、白细胞介素-8(IL-8)含量;化学比色法检测丙二醛(MDA)、超氧化物歧化酶(SOD)、谷胱甘肽过氧化物酶(GSH-Px)含量;实时荧光定量聚合酶链式反应(RT-qPCR)检测miR-542-3p表达水平。结果:与模型组比较,葛根芩连汤中剂量、高剂量组TNF-α、IL-6、IL-8含量显著降低(P<0.05)。与模型组比较,葛根芩连汤中剂量、高剂量组MDA水平显著降低,SOD、GSH-PX水平显著升高(P<0.05)。与模型组比较,葛根芩连汤中、高剂量组miR-542-3p表达水平显著升高(P<0.05)。与UC+miR-NC组比较,UC+miR-542-3p组细胞miR-542-3p表达水平显著升高;TNF-α、IL-6、IL-8含量显著降低;MDA水平显著降低以及SOD、GSH-Px水平显著升高(P<0.05)。与UC+anti-miR-NC+葛根芩连汤组比较,UC+anti-miR-542-3p+葛根芩连汤组细胞miR-542-3p表达水平显著降低;TNF-α、IL-6、IL-8含量显著升高;MDA水平显著升高以及SOD、GSH-Px水平显著降低(P<0.05)。结论:葛根芩连汤上调miR-542-3p表达保护UC大鼠,消除肠道炎症。     

无精子症和严重少精子症DYS240基因位点的分析

无精子因子（AZF）的缺失将导致无精子症和严重少精子症。本研究应用PCR方法分析了65倒核型正常的无精子症和25例核型正常的严重少精子症病人的DYS240基因位点。结果显示，无精子症病人中6例缺失DYS240基因位点，严重少精子症病人中4例缺失DYS240基因位点。提示DYS240基因是AZF的一个重要的候选成分。     

浙江畲族DYS287、DYS440位点的多态性研究

目的　研究浙江畲族人群中DYS2 87和DYS44 0位点的多态性。方法　采用聚合酶链反应扩增DYS2 87和DYS44 0 ,PCR产物用 2 %的琼脂糖电泳分析 10 0名畲族个体的基因型。结果　 10 0名个体DYS2 87位点全部是YAP-;没有发现YAP ;10名为DYS44 0 3 ,占总人群数的 10 % ,其余 90名是DYS44 0 4。结论　浙江畲族人群DYS2 87和DYS44 0多态性与属于汉藏语系的其它民族之间存在着明显的不同 ,因此这两个基因位点对研究人类的进化是一种稳定的、重要的遗传标记。     

温州汉族群体3个Y-STR基因座的遗传多态性调查

目的:获得温州汉族Y-DNA位点:DYS385、DYS392、DYS448的基因频率,并能应用这些资料进行人类遗传学研究和法医学应用.方法:以Chelex法提取外周血DNA,PCR扩增短串联重复(STR)位点DYS385、DYS392、DYS448后,用聚丙烯酰胺电泳系统进行分型.结果:在172个标本中,共检测到DYS392的5个等位基因,基因频率分别为0.0872、0.0756、0.4709、0.2500、0.1163.基因变异度为(GD)0.6929;检测到DYS448的6个等位基因,基因频率分别为0.0116、0.3372、0.3198、0.2674、0.0465、0.0174.基因变异度为0.7141;检测到DYS385的47个单倍型,基因变异度为0.9689.三个位点的基因变异度累计为0.9938.结论:Y-DNA位点:DYS385、DYS392、DYS448是三个具有法医学和群体遗传学应用价值的位点.