首页> 外文学位 >The implications of molecular diagnostics in clinicopathologic correlations in two disease processes: PSA serum levels in acute illnesses, and, prevalence of activated protein C resistance and factor V mutation in patients with thrombosis and in control patients by ethnic group.
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The implications of molecular diagnostics in clinicopathologic correlations in two disease processes: PSA serum levels in acute illnesses, and, prevalence of activated protein C resistance and factor V mutation in patients with thrombosis and in control patients by ethnic group.

机译:分子诊断在两种疾病过程中的临床病理相关性中的意义:急性疾病中PSA血清水平,以及血栓形成患者和对照患者(按种族)的活化蛋白C抗性和因子V突变的患病率。

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摘要

The molecular structure of a substance is the basis for its biological actions. Thus, the investigation of molecular structure, interaction between molecules and structural alterations can have significant effects on diagnostic laboratory tests and clinical manifestations. Presented in this dissertation are two separate investigations in which underlying molecular structure, interactions and molecular structural alterations are investigated in two disease processes.; In the first study, the effects of acute phase reactants and alpha-2-macroglobulin (A2MG) on serum PSA levels were investigated. Studies have shown that PSA complexes with certain blood proteins including alpha-1-antichymotrypsin (A1ACT) and A2MG. Measurements of various acute phase reactants including C-Reactive Protein(CRP), alpha-1-acid glycoprotein (A1AG), alpha-1-antitrypsin (A1AT), and A1ACT as well as A2MG were performed on 419 men admitted to an acute care facility in parallel with determinations of PSA. Statistical evaluation revealed a significant negative correlation of A2MG with PSA values (P 0.01) and an expected positive correlation of age with PSA values (P 0.001). The negative correlation seen in this study suggests the possibility that patients with high A2MG serum concentrations may have falsely decreased PSA serum levels.; In the second study, the prevalence of Factor V Leiden and resistance to activated protein C in various ethnic groups in Hawaii was evaluated. The relatively recently discovered resistance to activated protein C is the most common inherited defect causing venous thrombosis. As much as 90% of resistance to activated protein C is caused by a point mutation at nucleotide 1691 in the DNA coding sequence for coagulation factor V. This single base substitution results in inhibition of the proteolytic inactivation of factor V by activated protein C (APC) resulting in a condition known as resistance to APC. Most of the initial prevalence studies of factor V mutation had been performed in Europe. Eight hundred eighty eight subjects, 772 of which were known to be from one of 5 ethnic groups, were evaluated for the presence of factor V mutation using amplification technology (PCR). The overall prevalence of factor V mutation was 5.3% with the ethnic prevalences as follows: 8.5% Caucasian, 5.2% Hawaiian/Part Hawaiian, 4.5% Filipino, 4.3% Chinese, and 2.1% Japanese.
机译:物质的分子结构是其生物学作用的基础。因此,对分子结构,分子间相互作用和结构改变的研究可能对诊断实验室测试和临床表现产生重大影响。本文提出了两个独立的研究,其中研究了两种疾病过程中潜在的分子结构,相互作用和分子结构改变。在第一项研究中,研究了急性期反应物和α-2-巨球蛋白(A2MG)对血清PSA水平的影响。研究表明,PSA与某些血液蛋白(包括alpha-1-antichymotrypsin(A1ACT)和A2MG)形成复合物。对419名接受急诊护理的男性进行了各种急性期反应物的测量,包括C反应蛋白(CRP),α-1酸性糖蛋白(A1AG),α-1-抗胰蛋白酶(A1AT)和A1ACT以及A2MG。与PSA测定同时进行。统计评估显示,A2MG与PSA值呈显着负相关(P <0.01),而预期年龄与PSA值呈正相关(P <0.001)。在这项研究中发现的负相关性提示高A2MG血清浓度的患者PSA血清水平可能会错误降低。在第二项研究中,评估了夏威夷各族裔中因子V莱顿的发生率和对活化蛋白C的抵抗力。相对较新发现的对活化蛋白C的抗性是引起静脉血栓形成的最常见的遗传缺陷。高达90%的对活化蛋白C的抗性是由凝血因子V的DNA编码序列中核苷酸1691处的点突变引起的。这种单碱基取代导致活化蛋白C(APC)抑制了因子V的蛋白水解失活)导致称为APC抗性的状况。最初大多数有关V因子突变的流行性研究都在欧洲进行。使用扩增技术(PCR)对88名受试者(其中772名来自5个种族之一)进行了评估,评估其是否存在V因子突变。 V因子突变的总体患病率为5.3%,种族患病率如下:白人占8.5%,夏威夷人/部分夏威夷人占5.2%,菲律宾人占4.5%,中国人占4.3%,日本人占2.1%。

著录项

  • 作者

    Honda, Stacey Ann Akemi.;

  • 作者单位

    University of Hawai'i at Manoa.;

  • 授予单位 University of Hawai'i at Manoa.;
  • 学科 Health Sciences Pathology.; Biology Molecular.; Health Sciences Medicine and Surgery.
  • 学位 Ph.D.
  • 年度 2002
  • 页码 71 p.
  • 总页数 71
  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 病理学;分子遗传学;
  • 关键词

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