Abstract：
:Gene probes can now be used to detect a variety of mutations that produce single-gene disorders. In present clinical practice, restriction endonuclease analysis is used for the prenatal diagnosis of sickle cell anemia, alpha-thalassemia, and beta-thalassemia. Direct detection of the mutation is possible in alpha-thalassemia, where a deletion has usually occurred, and in sickle cell anemia, where the mutation alters the recognition sequence of the restriction endonuclease, Mst II. Indirect detection of beta-thalassemia is based on using normal variations in DNA (DNA polymorphisms) to track normal and affected beta-globin genes in families. This latter kind of analysis is also useful in detecting the phenylalanine hydroxylase genes affected in phenylketonuria and will often be used in disorders where the mutations are unknown. In cases where the mutation is known, direct analysis by use of oligonucleotide probes is a new and important advance. An example of this type of gene detection in a family with classical hemophilia is presented. In addition, with chorion villus biopsy, detection of these inherited diseases is feasible by the 12th week of pregnancy.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Kazazian HH Jrsubject
Has Abstractpub_date
1985-09-01 00:00:00pages
1509-13issue
9eissn
0009-9147issn
1530-8561journal_volume
31pub_type
杂志文章abstract：BACKGROUND:In 2008, the US Food and Drug Administration (FDA) issued a Guidance for Industry statement formally recognizing (during drug development) the conjoined nature of type 2 diabetes (T2D) and cardiovascular disease (CVD), which has precipitated an urgent need for panels of markers (and means of analysis) that a...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2010.156976
更新日期：2011-05-01 00:00:00
abstract：:We report the kinetics of the reactions of unconjugated bilirubin and conjugated bilirubin with p-diazobenzene sulfonic acid in aqueous media. Our studies confirm that each reaction proceeds in two steps and that the second step is catalyzed by sulfanilic acid. In the presence of an excess of p-diazobenzenesulfonic ac...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-10-01 00:00:00
abstract：:Three different techniques of lipase (EC 3.1.1.3) determination (titrimetry, nephelometry, and enzyme immunoassay) were used to investigate an interesting effect of ionic strength on enzyme activity. Both activation in the presence of NaCl (140 mmol/L) and strong immunoinhibition were observed for lipase from plasma o...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1984-03-01 00:00:00
abstract：:We report a procedure for determining fecal long-chain fatty acids (LCFA), triglycerides, and cholesterol after detergent extraction with 10 mL/L Triton X-100, 6 mL/L Brij 30, and 0.1 mol/L HCl in isotonic saline by enzymatic analysis of the extraction supernates. Mean recoveries of calibrators ranged from 105% to 117...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1994-12-01 00:00:00
abstract：:We have evaluated a new immunoenzymatic assay for human thyrotropin involving three monoclonal antibodies (Abbott HTSH EIA) and compared the results with those of two conventional nonequilibrium double-antibody radioimmunoassay (RIA) methods: Clinical Assays' RIA and a research RIA (J Clin Endocrinol Metab 1975; 41:67...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-03-01 00:00:00
abstract：BACKGROUND:Prostate-specific antigen (PSA) is a valuable prostatic cancer biomarker that is now widely used for population screening, diagnosis, and monitoring of patients with prostate cancer. Despite the voluminous literature on this biomarker, relatively few reports have addressed the issue of its physiological func...
journal_title：Clinical chemistry
pub_type： 杂志文章,评审
doi：
更新日期：2000-07-01 00:00:00
abstract：:In this automated apoenzyme reactivation immunoassay system (Ames Optimate) for thyroxin-binding globulin (TBG), the sample and N6-aminohexylflavin adenine dinucleotide-labeled TBG react sequentially with antiserum. Then apoglucose oxidase is added to combine with the free fraction and generate glucose oxidase activit...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-05-01 00:00:00
abstract：:The Center for Disease Control (CDC), the New York State Department of Health (NYSDH), the College of American Pathologists, and 23 manufacturers of diagnostic products participated in an interlaboratory study of aspartate aminotransferase (EC 2.6.1.1) methodologies. Six different lyophilized materials were prepared a...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-06-01 00:00:00
abstract：:We used a modification of the polymerase chain reaction (PCR), involving two pairs of oligonucleotide primers, to detect a mutation in the low-density lipoprotein (LDL) receptor gene, commonly occurring among patients with familial hypercholesterolemia (FH) in Finland. This mutation, called FH-Helsinki, involves a lar...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1990-06-01 00:00:00
abstract：BACKGROUND:B-type natriuretic peptide (BNP), which is activated in heart failure (HF), is processed to an active form by corin. The corin gene is expressed in the human heart and kidney, but corin protein expression in the heart, kidney, and circulation, along with whether proBNP is processed by circulating corin, rema...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2010.153908
更新日期：2011-01-01 00:00:00
abstract：:A new method for the reliable identification of localized variations in DNA by detection of associated diagnostic products with matrix-assisted laser desorption ionization time-of-flight mass spectrometry is described. The diagnostic products are generated by the primer oligo base extension (PROBE) reaction, which req...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1997-07-01 00:00:00
abstract：BACKGROUND:Cardiovascular mortality is markedly higher in Russia than in Western Europe and the US. Little is known about indicators of atherosclerotic risk in the Russian population. To our knowledge, this is the first study of apolipoprotein (apo) AI and B in Russia based on the WHO-IFCC standard. METHODS:We measure...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2003.023853
更新日期：2004-02-01 00:00:00
abstract：BACKGROUND:Evidence suggests that systemic inflammation may adversely impact HDL function. In this study we sought to evaluate the independent and incremental predictive performance of GlycA-a novel serum inflammatory biomarker that is an aggregate measure of enzymatically glycosylated acute phase proteins-and HDL subc...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2016.261636
更新日期：2017-01-01 00:00:00
abstract：:We report the development and characterization of an IRMA for the direct measurement of nicked human chorionic gonadotropin (hCGn) in blood and urine. hCGn derived from a reference preparation of hCG used as an immunogen elicits monoclonal antibodies (mAbs) with enhanced recognition of human luteinizing hormone epitop...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1999-01-01 00:00:00
abstract：:We report here the development of a new method that allows continuous determination of the oxygen dissociation curve for microsamples (600 mul) of whole blood under conditions of pH, pCO2, methemoglobin concentration, and 2,3-diphosphoglycerate content closely approaching those found in the circulatory system. The met...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-11-01 00:00:00
abstract：BACKGROUND:Fetuin-A inhibits inflammation and has a protective effect against myocardial ischemia. Its deficiency has been found to be associated with cardiovascular death in patients with end-stage renal failure disease. We investigated the association between plasma fetuin-A and clinical outcome after ST-elevation ac...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2006.084947
更新日期：2007-10-01 00:00:00
abstract：:In this assay of tamoxifen and four metabolites in human serum, the serum samples are deproteinized with an equal volume of acetonitrile, then injected into a small (0.21 X 2 cm) precolumn packed with 5-micron-diameter octadecylsilane (ODS) particles. The samples are concentrated on-column by equilibrating the column ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1987-09-01 00:00:00
abstract：:A method for determining platinum in biological materials by flameless atomic absorption spectrometry has been developed for use in pharmacological studies of platinum antitumor compounds. Tissue digests are analyzed in a heated graphite atomizer, with use of background correction and ramp temperature charring. We hav...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1977-07-01 00:00:00
abstract：BACKGROUND:Human herpesvirus 6 (HHV-6) latently infects a majority of adults. In about 1% of the population HHV-6 exists in a chromosomally integrated form (ciHHV-6) that resides in every somatic and germ cell and can be transmitted through the germ line. Patients with ciHHV-6 have been misdiagnosed and unnecessarily t...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2013.217240
更新日期：2014-05-01 00:00:00
abstract：:We recently proposed a quantitative PCR procedure for the absolute measurement of c-erbB-2 oncogene amplification, based on the simultaneous polymerase chain reaction (PCR) amplification of the target gene and of a competitor DNA molecule acting as internal standard. To increase the number of assayable oncogenes and t...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1995-06-01 00:00:00
abstract：BACKGROUND:Concentrations of physiological response variables fluctuate over time. The present study describes within-day and seasonal fluctuations for total cholesterol, dehydroepiandrosterone sulfate (DHEA-S), hemoglobin A(1c) (HbA(1c)), IgA, prolactin, and free testosterone in blood, and estimates within- (CV(i)) an...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：2000-04-01 00:00:00
abstract：:I describe a gas-chromatographic procedure involving a nitrogen detector for "free" (or "unbound") phenytoin in the concentration range 0.2-4.0 mg/L in ultrafiltrates of plasma. The CV (n = 10) for the assay was 2.9% for a 0.49 mg/L concentration, 1.5% for 2.02 mg/L. The sensitivity was 0.05 mg/L. The ultrafiltration ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1981-03-01 00:00:00
abstract：BACKGROUND:Iron may promote coronary atherosclerotic disease (CAD) by increasing lipid peroxidation. Studies on biochemical or genetic markers of body iron stores as risk factors for CAD have yielded conflicting results. METHODS:We studied 849 individuals with a clear-cut definition of the CAD phenotype, i.e., with (C...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：2002-01-01 00:00:00
abstract：INTRODUCTION:Pro or precursor forms of prostate-specific antigen (PSA) have emerged as potentially important diagnostic serum markers for prostate cancer detection. Immunoassays were developed to measure specific proPSA forms containing propeptides of 2, 4, and 7 amino acids [(-2)proPSA, (-4)proPSA, and (-7)proPSA, res...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2003.026823
更新日期：2004-06-01 00:00:00
abstract：:Cholinesterase activity in human serum was measured calorimetrically and compared to values obtained with the spectrophotometric method of Rappaport et al. [Clin. Chim. Acta 4, 227 (1959)]. The response of the calorimeter upon mixing serum with acetylcholine corresponded to the cholinesterase activity of the serum, th...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1977-10-01 00:00:00
abstract：:This two-site immunoradiometric assay for human parathyrin-related protein 1-86 (PTHRP1-86) in plasma uses a mouse monoclonal antibody to PTHRP1-34 coupled to cellulose particles for immunoextraction of N-terminal immunoreactivity, and a rabbit antiserum to PTHRP37-67 that is indirectly labeled with 125I-labeled PTHRP...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1991-05-01 00:00:00
abstract：BACKGROUND:Little research has been done to examine whether gamma-glutamyltransferase (GGT) is prospectively associated with the development of chronic kidney disease (CKD). We performed a prospective study to examine the association between GGT and the risk for the development of CKD. METHODS:The study cohort include...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2006.078980
更新日期：2007-01-01 00:00:00
abstract：:We have improved the protocol for RNA quantification by using RNase protection. Instead of precipitation and extraction with phenol and chloroform, we use a faster and more reliable precipitation based on guanidinium thiocyanate (GdSCN). The internal standard is produced by in vitro transcription of a DNA template con...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1995-11-01 00:00:00
abstract：:Two-hour postprandial specimens have a -14% proportional bias for lipoprotein(a) [Lp(a)], a -0.035 g/L systematic bias for apolipoprotein (apo) A-I, and a -9% proportional bias for apo B, compared with values in 12-h fasting specimens. Although a physiological hemodilution appears to account for a portion of these bia...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1992-03-01 00:00:00
abstract：:A simple and convenient method using commercially available derivatization reagents is described for the measurement of betaine and N,N-dimethylglycine (DMG) in blood and urine. Precolumn derivatization of plasma or urine is performed directly in acetonitrile without extraction with p-bromophenacyl bromide and crown e...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1998-09-01 00:00:00
