Abstract:
OBJECTIVES:Homologous recombination is a frequent phenomenon in multigene families and as such it occurs several times in both the alpha- and beta-like globin gene families. In numerous occasions, genetic recombination has been previously implicated as a major mechanism that drives mutagenesis in the human globin gene clusters, either in the form of unequal crossover or gene conversion. Unequal crossover results in the increase or decrease of the human globin gene copies, accompanied in the majority of cases with minor phenotypic consequences, while gene conversion contributes either to maintaining sequence homogeneity or generating sequence diversity. The role of genetic recombination, particularly gene conversion in the evolution of the human globin gene families has been discussed elsewhere. CONCLUSION:Here, we summarize our current knowledge and review existing experimental evidence outlining the role of genetic recombination in the mutagenic process in the human globin gene families.
journal_name
Clin Biochemjournal_title
Clinical biochemistryauthors
Borg J,Georgitsi M,Aleporou-Marinou V,Kollia P,Patrinos GPdoi
10.1016/j.clinbiochem.2009.07.014subject
Has Abstractpub_date
2009-12-01 00:00:00pages
1839-50issue
18eissn
0009-9120issn
1873-2933pii
S0009-9120(09)00300-2journal_volume
42pub_type
杂志文章,评审abstract:OBJECTIVE:To report the phenotypes and genetic basis of a novel (A)γδβ(0)-thalassemia found in Thai individuals with several forms of thalassemia. DESIGNS AND METHODS:An initial study was done in an adult Thai woman who had hypochromic microcytic red cells with unusually 100% Hb F. Extended study was carried out on he...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2015.03.023
更新日期:2015-07-01 00:00:00
abstract:OBJECTIVES:The aims of the study were to test the susceptibility of THP-1 macrophages to develop oxidative stress and to deploy antioxidant defense mechanisms that insure the balance between the pro- and antioxidant molecules. DESIGN AND METHODS:Differentiated THP-1 were incubated in the presence or absence of iron-as...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.04.012
更新日期:2011-07-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:A large number of studies have examined the association between the Membrane-spanning 4 domains, superfamily A, number 2 (MS4A2) gene C-109T (rs1441586) or E237G (rs569108) variants and asthma risk. However, the results are inconsistent and inconclusive. To derive a more precise estimation, a m...
journal_title:Clinical biochemistry
pub_type: 杂志文章,meta分析
doi:10.1016/j.clinbiochem.2014.01.022
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVES:This study was undertaken to investigate the impact of the Pro12Ala (rs1801282) polymorphism of the peroxisome proliferator-activated receptor gamma-2 (PPARgamma-2) gene on obesity or body mass index (BMI) and plasma leptin, insulin, adiponectin and lipid levels in a sample of the Tunisian population. DESIG...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2009.08.019
更新日期:2009-11-01 00:00:00
abstract:OBJECTIVES:We sought to investigate whether heart-type fatty acid binding protein (H-FABP), a new marker of myocardial necrosis, increases in relation to elective cardioversion of atrial fibrillation (AF). METHODS:We studied 25 consecutive patients (61 ± 16 years old, 21 men) admitted to our hospital for elective card...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2011.05.029
更新日期:2011-08-01 00:00:00
abstract:OBJECTIVES:Both kidney expression and soluble serum Klotho are influenced by chronic kidney disease (CKD) and diabetes. Serum Klotho is a yet poorly explored biomarker. We describe, for the first time to our knowledge, serum Klotho in diabetic patients with CKD and its relationship to vascular endothelial growth factor...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.07.098
更新日期:2012-11-01 00:00:00
abstract:OBJECTIVES:To assess the relationship between lipoprotein (a) [Lp (a)] and lipoprotein oxidation in patients with coronary artery disease (CAD). DESIGN AND METHODS:Oxidation of apolipoprotein (apo)B-containing lipoproteins, vitamin E, carotenoids, lipid-lipoprotein levels were determined in 171 CAD and 70 non-CAD subj...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(00)00079-5
更新日期:2000-06-01 00:00:00
abstract:BACKGROUND:Gliomas are tumors of the central nervous system derived from glial cells. They show cellular heterogeneity and lack specific diagnostic markers. Although a possible role for the eicosanoid cascade has been suggested in glioma tumorigenesis, the relationship between enzymes and receptors implicated in arachi...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2010.03.017
更新日期:2010-07-01 00:00:00
abstract:BACKGROUND/OBJECTIVES:Elevated concentrations of Hepatocarcinoma-Intestine-Pancreas/Pancreatitis-associated Protein I (HIP/PAP-I) in pancreatic juice have been reported in patients with pancreatic adenocarcinoma and have been considered as a promising tumor marker. This study was conducted to investigate whether biliar...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.01.012
更新日期:2005-06-01 00:00:00
abstract:OBJECTIVE:Immunosuppressive therapy after liver transplantation may be a risk for kidney dysfunction. This work was designed to determine whether Tamm-Horsfall Protein (THP) could be considered as a marker for nephrotoxicity. DESIGN AND METHODS:THP was determined by an ELISA method in serial 24-h urine from liver tran...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(02)00274-6
更新日期:2002-02-01 00:00:00
abstract:OBJECTIVES:The glutathione S-transferases (GSTs) play a critical role in protecting the colorectal mucosa. We investigated the efficacy of using the GSTs activity of plasma as a biomarker of risk for colorectal cancer. METHODS:GSTs activity was measured in the plasma of control individuals (n=39) and in the plasma, tu...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2005.04.004
更新日期:2005-07-01 00:00:00
abstract:BACKGROUND:While investigating estrogen response element (ERE) binding properties of human estrogen receptor-α (hERα) in breast cancer cytosols, other ERE-binding proteins (ERE-BP) were observed. DESIGN AND METHODS:Recognition properties of ERE-BP were evaluated by electrophoretic mobility shift assays (EMSA) with ERE...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2013.07.005
更新日期:2013-11-01 00:00:00
abstract:OBJECTIVE:To assess the generation of reactive oxygen species (ROS) and the involvement of the main antioxidant pathways in low/intermediate-1-risk myelodysplastic syndromes (MDS) with iron overload (IOL). METHODS:We examined the levels of superoxide anion (O2-), hydrogen peroxide (H2O2), antioxidants (glutathione, GS...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2017.05.018
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVES:Eales' disease (ED) is an idiopathic retinal vasculitis condition, which affects retina of young adult males. The histopathological hallmark in ED is the adhesion of leukocytes to the endothelium and the infiltration of these cells into the retinal parenchyma. Phagocyte generated free radicals have been impl...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(03)00058-4
更新日期:2003-07-01 00:00:00
abstract:BACKGROUND:Plasma concentrations of human chorionic gonadotropin (hCG) have been shown to increase with age due to pituitary secretion. We previously recommended that an hCG cutoff of 14.0IU/L be used for women ≥55years of age. However, it remains unknown whether concentrations >14.0IU/L can be expected in women with a...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2016.11.017
更新日期:2017-03-01 00:00:00
abstract:BACKGROUND:With the advent of the new high-sensitivity troponin assays, it is becoming critical to measure troponin accurately to low concentrations. To ensure assay performance is acceptable, appropriate QC must be run. METHODS:In addition to the routine use of commercial QC material, we prepared pools of human QC ma...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2018.05.007
更新日期:2018-08-01 00:00:00
abstract::Retrospective analysis of DNA from paraffin-embedded fixed bone marrow biopsy specimens is possible if preceded by amplification of the DNA sequences of interest by the polymerase chain reaction (PCR). These fixed specimens yield degraded DNA that may not be suitable for direct analysis by conventional digestion and h...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(92)80051-h
更新日期:1992-04-01 00:00:00
abstract:OBJECTIVES:It has recently been suggested that when adjusting doses of cyclosporine (CsA), determining its concentration in blood samples taken 2 h postdose (C(2)) is more clinically beneficial than using the predose concentration (C(0)). We determined C(0) and C(2) concentrations of CsA and their metabolites in sample...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(00)00147-8
更新日期:2000-07-01 00:00:00
abstract:OBJECTIVES:Most clinical laboratories replaced their manual precipitation techniques for the determination of urinary protein with automated dye binding assays or benzethonium chloride-turbidimetric assays. Few studies have validated these assays for the measurement of urinary proteins in the normal range. DESIGN AND ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2004.12.010
更新日期:2005-05-01 00:00:00
abstract::We assessed the diagnostic value of four commercially available methods for determining pancreatic lipase (LPS) in serum (the turbidimetric procedure from Boehringer, two enzymatic approaches from Kodak and Poli, and an immunochemical assay) in a population of 46 hospitalized patients with acute abdominal pain. In 31 ...
journal_title:Clinical biochemistry
pub_type: 临床试验,杂志文章
doi:10.1016/s0009-9120(05)80009-8
更新日期:1991-12-01 00:00:00
abstract::We present data comparing the Roche CEA radioimmunoassay (RIA) utilizing ultrafiltration and the Abbott CEA immunoradiometric assay (IRMA) methods for standard curve sensitivity, analytical reproducibility, recovery (pre and post extraction), dilution linearity, and patient correlation. The Roche intra- and inter-assa...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(82)97007-2
更新日期:1982-10-01 00:00:00
abstract::To elucidate the diagnostic relevance of biliary conjugated bilirubin, biliary bilirubin from normal volunteers (NV), patients with Gilbert's syndrome (GS) and Crigler-Najjar syndrome type II (C-N II), and from various rat strains was fractionated. Biliary bilirubin diglucuronide (BDG) was present at lower levels, and...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(90)80024-d
更新日期:1990-04-01 00:00:00
abstract::High-molecular-weight von Willebrand factor (vWf) multimers were separated from their smaller multimers by molecular-sieve chromatography and were measured by several sandwich enzyme-linked immunosorbent assays (ELISA) with monoclonal antibodies (moABs) against human vWf. The epitopes of these moABs were mapped partia...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/0009-9120(94)90022-1
更新日期:1994-04-01 00:00:00
abstract:BACKGROUND:Red blood cell distribution width (RDW) is a predictor of mortality in critically ill patients. Our objective was to investigate the association between the RDW at ICU discharge and the risk of ICU readmission or unexpected death in the ward. METHODS:A secondary analysis of prospectively collected data stud...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2018.03.010
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVES:Salivary analysis is a noninvasive alternative that may be more acceptable to patients, especially children. As such, it has the potential for incorporation into comprehensive, dynamic investigations of metabolic dysfunctions - a significant advancement over a single time point serum analysis. In this study,...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/s0009-9120(02)00471-x
更新日期:2003-05-01 00:00:00
abstract:OBJECTIVE:We compared leukocyte counts obtained by cytometric analysis and Fuchs-Rosenthal (FR) chamber counting in different proportions of lymphocytes (Lym%) suspensions and cerebrospinal fluid (CSF). DESIGN AND METHODS:UF-100 (UF) was evaluated. For preparation of cell suspensions, gradient density centrifugation m...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2006.05.003
更新日期:2006-08-01 00:00:00
abstract:OBJECTIVES:This study aims to report a hitherto un-described α-globin gene triplicated allele with a novel hemoglobin (Hb) variant on α2-globin gene, Hb St.Luke's-Thailand [α95(G2)Pro-Arg]. DESIGNS AND METHODS:A study was done on a 1.5-year-old Thai boy who showed pallor and jaundice after birth. Hb analysis was perfo...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2013.01.022
更新日期:2013-05-01 00:00:00
abstract:OBJECTIVES:To determine pediatric reference values for serum zinc concentration in Iranian subjects. DESIGN AND METHODS:Serum zinc concentration was measured by flame atomic absorption spectrometry in 699 children and adolescents. Reference values for serum zinc were determined according to the Clinical and Laboratory...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.07.086
更新日期:2012-10-01 00:00:00
abstract:UNLABELLED:The study of factors potentially associated with sleep bruxism (SB) may contribute to a better understanding of its nature and etiology. OBJECTIVES:In this way, this cross-sectional study aimed to evaluate the association between SB and salivary cortisol levels, heart rate, and other parafunctional habits. ...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2012.03.013
更新日期:2012-06-01 00:00:00
abstract:OBJECTIVES:To develop a method for the determination of succinylacetone (SA) in dried blood spots (DBS) using tandem mass spectrometry (MS/MS). METHODS:SA was extracted from DBS with an acetonitrile and water solution (80:20 by volume) containing formic acid and hydrazine hydrate (both at 0.1% by volume), and analyzed...
journal_title:Clinical biochemistry
pub_type: 杂志文章
doi:10.1016/j.clinbiochem.2004.07.006
更新日期:2004-11-01 00:00:00