Abstract:
:The genes of the human leukocyte antigen (HLA) region, the major histocompatibility complex (MHC) of humans, control a variety of functions involved in immune response and influence susceptibility to over 40 diseases. Theoretical studies in the development of models to determine the modes of inheritance of the HLA-associated diseases have led to a better understanding of the inheritance patterns in insulin-dependent diabetes mellitus (IDDM), rheumatoid arthritis, multiple sclerosis, ankylosing spondylitis, hemochromatosis, celiac disease, and others. It is now clear that many of the HLA-associated diseases involve heterogeneity in their HLA components, as well as non-HLA genetic factors. This review is presented using HLA-associated diseases, and in particular IDDM, as the example of interest, but the observations and techniques presented have direct relevance to the study of all human diseases with a complex genetic component. Three methods for localizing disease-predisposing genes are presented: (1) association studies, including population, family, and relative predispositional effects, (2) affected sib pair and other affected-relative methods, and (3) lod score analysis. A variety of complementary methods for studying the mode(s) of inheritance of the alleles at the disease-predisposing locus and for identifying the alleles and amino acids directly involved in the disease process also are presented.
journal_name
Crit Rev Clin Lab Scijournal_title
Critical reviews in clinical laboratory sciencesauthors
Thomson Gdoi
10.3109/10408369509084684subject
Has Abstractpub_date
1995-01-01 00:00:00pages
183-219issue
2eissn
1040-8363issn
1549-781Xjournal_volume
32pub_type
杂志文章,评审abstract::Coronavirus disease 2019 (COVID-19) is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Despite pulmonary impairments being the most prevalent, extra-pulmonary manifestations of COVID-19 are abundant. Confirmed COVID-19 cases have now surpassed 57.8 million worldwide as of 22 November 2020. ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章
doi:10.1080/10408363.2020.1860895
更新日期:2020-12-21 00:00:00
abstract::Acute pancreatitis is an acute inflammatory condition of the pancreas, which might extend to local and distant extrapancreatic tissues. The global incidence varies between 17.5 and 73.4 cases per 100,000 and the pathogenesis recognizes alcohol exposure and biliary tract disease as the leading causes, ahead of post-end...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2012.658354
更新日期:2012-01-01 00:00:00
abstract::The red blood cell distribution width (RDW) is a simple and inexpensive parameter, which reflects the degree of heterogeneity of erythrocyte volume (conventionally known as anisocytosis), and is traditionally used in laboratory hematology for differential diagnosis of anemias. Nonetheless, recent evidence attests that...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2014.992064
更新日期:2015-01-01 00:00:00
abstract::Hypersensitivity pneumonitis (HP) is a group of immunologically mediated lung diseases caused by the inhalation of environmental agents in susceptible individuals. Most HP patients are non-smokers and have been exposed to organic dusts from vegetable or animal products. Some HP cases are associated with exposures to r...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360290795583
更新日期:2002-11-01 00:00:00
abstract::Crohn's disease (CD) and ulcerative colitis (UC) are the two principal forms of inflammatory bowel disease (IBD). Animal studies show that bacteria are involved in the etiology of IBD, and much is now known about the inflammatory processes associated with CD and UC, as well as the underlying genetic, environmental, an...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360802485792
更新日期:2009-01-01 00:00:00
abstract::Bartter's and Gitelman's syndromes can be used as models to gain insight into the mechanisms responsible for maintaining/controlling vascular tone. In fact, the study of patients with these syndromes provides important insights into mechanistic details of the most relevant pathways of vascular tone. So far, several ex...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360091174295
更新日期:2000-12-01 00:00:00
abstract::The discovery of a G protein-coupled, calcium-sensing receptor (CaR) a decade ago and of diseases caused by CaR mutations provided unquestionable evidence of the CaR's critical role in the maintenance of systemic calcium homeostasis. On the cell membrane of the chief cells of the parathyroid glands, the CaR "senses" t...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360590886606
更新日期:2005-01-01 00:00:00
abstract::As the primary interface between the blood and various tissues of the body, the vascular endothelium exhibits a diverse range of roles and activities, all of which contribute to the overall health and function of the cardiovascular system. In this focused review, we discuss several key aspects of endothelial function,...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408363.2017.1394267
更新日期:2017-01-01 00:00:00
abstract::Serum gamma-glutamyl transferase (GGT) has been widely used as an index of liver dysfunction and marker of alcohol intake. The last few years have seen improvements in these areas and advances in understanding of its physiological role in counteracting oxidative stress by breaking down extracellular glutathione and ma...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/20014091084227
更新日期:2001-08-01 00:00:00
abstract::This review focuses on the laboratory biochemical tests that are useful in the diagnostic approach to the hypertensive patient. A "minimal" diagnostic laboratory work-up, including a small number of tests that are simple and relatively inexpensive, is first described. Because these tests provide basic information on t...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360500295600
更新日期:2005-01-01 00:00:00
abstract::Despite the ever growing collection of data concerning the function of the immune system in patients with epidermoid carcinoma of the head and neck, the precise mechanism by which these tumors effect the body's surveillance against foreign antigen is as yet unidentified. If these specific immunological characteristics...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368309165758
更新日期:1983-01-01 00:00:00
abstract::Fourier transform mid-infrared (MIR-FTIR) spectroscopy is a nondestructive, label-free, highly sensitive and specific technique that provides complete information on the chemical composition of biological samples. The technique both can offer fundamental structural information and serve as a quantitative analysis tool...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408363.2017.1414142
更新日期:2018-01-01 00:00:00
abstract::Hypophosphatasia is a rare inherited disorder in which the activity of the bone/liver/kidney or tissue nonspecific form of alkaline phosphatase (ALP) is reduced. The clinical expression of the disease is highly variable, but in early life the severity tends to reflect the age of onset. Accordingly, the disease is ofte...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408369109106862
更新日期:1991-01-01 00:00:00
abstract::von Willebrand factor (VWF) is a multimeric plasma protein that mediates platelet adhesion as well as platelet aggregation at sites of vascular injury and acts as a carrier of factor VIII. Although acquired or inherited VWF deficiency is associated with a bleeding tendency, there is increasing evidence that VWF has a ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360600966753
更新日期:2007-01-01 00:00:00
abstract::Hemophilia care depends on several factors for the production of purified FVIII: plasma procurement, plasma logistics, production method, and efficacy. The latter two are restrictive factors, both for the supply and the safety of FVIII preparations. Conventional production methodology unavoidably recovers only 10 to 2...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368609111596
更新日期:1986-01-01 00:00:00
abstract::Despite great progress in prevention strategies, pharmacotherapy and interventional treatment of coronary artery disease (CAD), cardiovascular events still constitute the leading cause of mortality and morbidity in the modern world. Traditional risk factors, including hypertension, diabetes mellitus, smoking, obesity,...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2014.913549
更新日期:2014-10-01 00:00:00
abstract::Isoelectric focusing (IEF) as a method for differentiating macromolecules with minor differences in isoelectric points has demonstrated an increase in the degree of genetic polymorphisms of the blood. Studies over the last 5 to 6 years have shown that genetic marker systems such as transferrin (TF), phosphoglucomutase...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368409165772
更新日期:1984-01-01 00:00:00
abstract::High-density lipoprotein (HDL), the most abundant human plasma lipoprotein, plays a major role in reverse cholesterol transport, which recycles cholesterol from peripheral cells to the liver. HDL constitutes a heterogeneous group of particles differing in density, size, electrophoretic mobility, and apolipoprotein con...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408369609083060
更新日期:1996-01-01 00:00:00
abstract::Vitamin D has been attributed roles in the pathogenesis and prevention of several diseases such as cancer, cardiovascular disease, multiple sclerosis, diabetes, autism and autoimmune diseases. The concomitant expression of the 25-hydroxyvitamin D3-1α-hydroxylase and of the vitamin D3 receptor in animal and human tissu...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2014.901291
更新日期:2014-08-01 00:00:00
abstract::There have been numerous publications on the coagulopathy of cardiopulmonary bypass (CPB). This review provides an introduction to the history and main components of current CPB circuits and summarizes the current knowledge of pathogenesis, prevention, and treatment of the CPB coagulopathy. It encompasses an overview ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2010.549291
更新日期:2010-12-01 00:00:00
abstract::Our understanding of risk factors for atherogenesis has changed significantly over the last decade. In addition to better grasp of the mechanism of action of the "classic" (causal) risk factors, a number of potentially important new factors has emerged. In this review we briefly summarize the evidence of the relation ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/20014091084245
更新日期:2001-10-01 00:00:00
abstract::Alpha fetoprotein (AFP) is the major protein of fetal serum and most resembles albumen, which replaces it shortly after birth. It is produced by fetal liver and passes into the amniotic fluid (AF) via fetal urine. A small amount crosses the membranes into the maternal circulation. Excluding fetal blood contamination, ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368109105870
更新日期:1981-01-01 00:00:00
abstract::Management of chronic diseases represents a leading health and economic issue worldwide. Biomarkers are critical for the diagnosis and management of both communicable and non-communicable chronic diseases, and mobile health (mHealth) technologies are about to change the "game" with regard to the management of patients...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2016.1167163
更新日期:2016-10-01 00:00:00
abstract::The CK-BB isoenzyme is ubiquitous in neoplastic tissue, but with low activity. Accordingly, it might be a nonspecific and insensitive tumor marker. Evaluation of BB isoenzyme in serum might indicate the extent of diseases or the response to therapy. The presence of CK-MB in patients with cancers may cause confusion wi...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368609165795
更新日期:1986-01-01 00:00:00
abstract::Iron deficiency is the most common micronutrient deficiency in the world and represents a major challenge for public health, notably in terms of morbidity and mortality. It remains largely under-diagnosed due to the low level of exploration and the absence of international harmonization for biological tests and thresh...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章
doi:10.1080/10408363.2019.1653820
更新日期:2019-12-01 00:00:00
abstract::Most clinical chemical analytes vary in a random manner around a homeostatic set point. Replicate analyses of a series of specimens collected from a group of subjects allows estimation of analytical, within and between subject components of variation. The preferred experimental procedures and statistical methods for e...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368909106595
更新日期:1989-01-01 00:00:00
abstract::Low molecular-mass plasma proteins play a key role in health and disease. Cystatin C is an endogenous cysteine proteinase inhibitor belonging to the type 2 cystatin superfamily. The mature, active form of human cystatin C is a single non-glycosylated polypeptide chain consisting of 120 amino acid residues, with a mole...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360490504934
更新日期:2004-01-01 00:00:00
abstract::Programmed death receptor-1 (PD-1) and its ligand, PD-L1, as negative co-stimulatory molecules, are indispensable for regulating both physiological and pathological immune responses. The PD-1/PD-L1-mediated signaling pathway has been studied extensively in cancer research and has become a hotspot for biopharmaceutical...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408363.2018.1522292
更新日期:2019-01-01 00:00:00
abstract::The prevalence of secondary hypertension can be underestimated if appropriate tests are not performed. The importance of selecting patients with a high pre-test probability of secondary forms of hypertension is first discussed. The laboratory tests currently used for seeking a cause of hypertension are critically revi...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360600931831
更新日期:2007-01-01 00:00:00
abstract::Resveratrol and its naturally dimethylated analog, pterostilbene, show similar biological activities. However, the higher in vivo bioavailability of pterostilbene represents a fundamental advantage. The main focus of this review is on biomedical applications of pterostilbene. The metabolism and pharmacokinetics of thi...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2013.805182
更新日期:2013-05-01 00:00:00