Abstract：
BACKGROUND:Massively parallel sequencing has recently been used in noninvasive prenatal diagnosis. The current costs of this technology are still relatively expensive, however, and sample throughput is still relatively low when it is used as a molecular diagnostic tool. Rather than nonselectively sequencing the genome, target enrichment provides a logical approach for more efficient and cost-effective massively parallel sequencing because it increases the proportion of informative data from the targeted region(s). Existing applications of targeted sequencing have mainly been qualitative analyses of genomic DNA. In this study, we investigated its applicability in enriching selected genomic regions from plasma DNA and the quantitative performance of this approach. METHODS:DNA was extracted from plasma samples collected from 12 pregnant women carrying female fetuses. The SureSelect Target Enrichment System (Agilent Technologies) was used to enrich for exons on chromosome X. Plasma DNA libraries with and without target enrichment were analyzed by massively parallel sequencing. Genomic DNA samples of the mother and fetus for each case were genotyped by microarray. RESULTS:For the regions targeted by the enrichment kit, the mean sequence coverage of the enriched samples was 213-fold higher than that of the nonenriched samples. Maternal and fetal DNA molecules were enriched evenly. After target enrichment, the coverage of fetus-specific alleles within the targeted region increased from 3.5% to 95.9%. CONCLUSIONS:Targeted sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles at genomic regions of interest and is a powerful method for measuring the proportion of fetal DNA in a maternal plasma sample.
journal_name
Clin Chemjournal_title
Clinical chemistryauthors
Liao GJ,Lun FM,Zheng YW,Chan KC,Leung TY,Lau TK,Chiu RW,Lo YMdoi
10.1373/clinchem.2010.154336subject
Has Abstractpub_date
2011-01-01 00:00:00pages
92-101issue
1eissn
0009-9147issn
1530-8561pii
clinchem.2010.154336journal_volume
57pub_type
杂志文章abstract：:Kappa Bence Jones proteinuria was found by immunoelectrophoretic techniques in a patient with plasma cell leukemia, who presented with no M-proteins either in serum or urine. However, a significant decrease in normal immunoglobulins was observed. On microscopic examination of kidney sections obtained a autopsy, protei...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-10-01 00:00:00
abstract：:Using different substance concentrations in an aqueous 1.25 mmol/L solution of CaCl2 plus NaCl to a final solution ionic strength of 160 mmol/L, we tested six buffers for their effect on measurements of ionized calcium (Ca2+). Measured Ca2+ decreased with increasing ionic strength and pH. Increasing concentrations of ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1985-02-01 00:00:00
abstract：BACKGROUND:Buprenorphine is under investigation as a pharmacotherapeutic agent for treating opioid dependence in pregnant women. We hypothesized that there would be a relationship between the cumulative maternal dose of buprenorphine during pregnancy and the concentration of buprenorphine and norbuprenorphine in matern...
journal_title：Clinical chemistry
pub_type： 临床试验,杂志文章
doi：10.1373/clinchem.2007.091413
更新日期：2007-12-01 00:00:00
abstract：:We report a case of hyperphosphatasemia in a 35-year-old patient with hepatitis B who underwent an orthotopic xenogeneic liver transplant. Marked increases in total alkaline phosphatase (ALP; EC 3.1.3.1) activity began 5 days posttransplantation (six times human normal) and increased to approximately 17 times normal a...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1994-07-01 00:00:00
abstract：:Four routine assays commonly used for monitoring plasma methotrexate (MTX) during high-dose therapy were validated by HPLC as the comparison method. MTX and its main metabolite, 7-hydroxymethotrexate (7-OHMTX), were analyzed by HPLC with postcolumn derivatization and fluorometric detection. About 200 clinical plasma s...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1996-01-01 00:00:00
abstract：BACKGROUND:Prediction of cyclosporine (CSA) efficacy and toxicity in individual patients is difficult. There is no practical, biologically relevant, pharmacodynamic measure of CSA effect. A major effect of CSA is to decrease interleukin-2 (IL-2) production; however, measurement of this effect in isolated lymphocytes as...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1999-09-01 00:00:00
abstract：BACKGROUND:PCR-based mutation detection is prone to methodological errors, e.g., in restriction length fragment polymorphism (RFLP) and allele-specific amplification (ASA), false PCR results may occur because of technical faults or atypical new mutations. METHODS:We investigated the ability of a genotyping assay based...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1999-12-01 00:00:00
abstract：BACKGROUND:The fibroblast growth factor (FGF) and FGF receptor (FGFR) axis plays a critical role in tumorigenesis, but little is known of its influence in ovarian cancer. We sought to determine the association of genetic variants in the FGF pathway with risk, therapeutic response, and survival of patients with ovarian ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2013.211490
更新日期：2014-01-01 00:00:00
abstract：:We describe an improved "high-pressure" liquid-chromatographic assay for simultaneous determination in serum of the five major antiepileptic drugs (ethosuximide, primidone, phenobarbital, phenytoin, and carbamazepine) and N-desmethylmethsuximide (the compound that must be quantitated for therapeutic drug monitoring of...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:We studied chemical speciation of arsenic compounds in urine samples by using HPLC with inductively coupled plasma mass spectrometry detection. We examined urinary arsenic excretion patterns and the arsenic species excreted from nine human subjects who ingested seaweed products and crab (or shrimp). Fast urinary excre...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1994-04-01 00:00:00
abstract：:Total bilirubin is determined here with a multipoint calibration approach and with use of Standard Reference Material No. 916 bilirubin from the National Bureau of Standards. The bilirubin calibration solutions prepared in solutions of Cohn Fraction V human albumin were stable for at least one year when stored at -80 ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1981-08-01 00:00:00
abstract：:This assay was developed to measure apolipoprotein (apo) B in blood samples spotted onto filter paper. The long-term aim is to detect young families with the dominantly inherited familial hypercholesterolemia, during current neonatal screening programs. The interassay CV was 5.6%, and apo B concentrations correlated c...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-06-01 00:00:00
abstract：BACKGROUND:Gradient gel electrophoresis (GGE) and nuclear magnetic resonance (NMR) spectroscopy are both widely accepted methods for measuring LDL and HDL particle size. However, whether or not GGE- or NMR-measured LDL or HDL particle size predicts coronary heart disease (CHD) risk to a similar extent is currently unkn...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2009.140939
更新日期：2010-05-01 00:00:00
abstract：:Agarose column chromatography has been used to separate plasma lipoproteins into very-low-density lipoproteins (VLDL), low-density lipoproteins (LDL) and high-density lipoproteins (HDL). Applied to the diagnosis of primary type III hyperlipoproteinemia, the procedure is capable of demonstrating three characteristic an...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-12-01 00:00:00
abstract：:Radiometric, colorimetric, and two immunochemical methods for measuring total iron-binding capacity are compared. We evaluated the procedures on the basis of precision, applicability to a pediatric population, and accuracy as assessed by analytical recovery of purified transferrin. The immunoephelometric assay for tra...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-10-01 00:00:00
abstract：:Diabetic patients in poor glycemic control show increased glycation of total plasma proteins, but little is yet known about the relative extents to which the various individual proteins are glycated. Thus, we studied the non-enzymic glycation of several major plasma proteins and plasma protein fractions in normal and ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1987-12-01 00:00:00
abstract：:Phenobarbital and phenytoin are extracted and concentrated in a single step, without solvent evaporation, followed by on-column methylation and gas-chromatographic quanitation. A similar extraction step for the assay of theophylline by high-pressure liquid chromatography is described. The extraction step can be comple...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-09-01 00:00:00
abstract：:We describe a simple method in which a water-soluble mixture of triocatanoin and a surfactant, "Triton X-114," are used in preparing solutions of triglycerides (triacylglycerols) in either human serum, solutions of albumin, or water. Analytical recovery added triglyceride was quantitative by two methods. The addition ...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1976-08-01 00:00:00
abstract：:o-Phthaldialdehdye reagent was used in assaying urea with a miniature centrifugal analyzer. Seventeen samples can be assayed kinetically in 2 min at a current cost of less than a penny per test. The reaction is initiated in the instrument upon simultaneous mixing of the o-phthaldialdehyde reagent containing 10 microli...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1978-12-01 00:00:00
abstract：BACKGROUND:Human iron status is influenced by environmental and genetic factors. We hypothesized that the genetic polymorphism of haptoglobin (Hp), a hemoglobin-binding plasma protein, could affect iron status. METHODS:Reference values of serum iron status markers were compared according to Hp phenotypes (Hp 1-1, Hp 2...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：2000-10-01 00:00:00
abstract：:We report the first solid-phase radioimmunoassay for triiodothyronine with use of antibody-coated tubes, which is designed specifically for the fully automated radioimmunoassay instrument, Micromedic Systems' "Concept 4 Automatic Radioassay." Antisera to triiodothyropropionic acid/bovine serum albumin were raised in r...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1977-05-01 00:00:00
abstract：:Methods are described for detection of lactate dehydrogenase (LDH) inhibitors in preparations of reduced nicotinamide adenine dinucleotide. They are (a) comparison of values by kinetic methods with those measured for highly purified NADH and (b) examination of Lineweaver-Burk plots. Chromatographic inhomogeneities are...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1976-10-01 00:00:00
abstract：:The S-peptide and S-protein fragments of ribonuclease S (RNase S, no EC no. assigned) have been immobilized onto separate Sepharose gels via a "leash" of polycytidylic acid substrate. Each of these gels releases its RNase fragment when treated with the complementary enzyme fragment or with RNase A (EC 3.1.27.5), and t...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1986-09-01 00:00:00
abstract：:During phase I/II clinical trials of sirolimus (rapamycin; SRL), therapeutic drug monitoring was performed with a multistep liquid-liquid extraction of 1-mL aliquots of whole blood followed by reversed-phase HPLC with ultraviolet detection. Blood was sampled according to a standardized protocol and clinical status. SR...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1996-12-01 00:00:00
abstract：:We describe a new multilayer immunoassay element for the determination of haptens in undiluted serum and plasma. Polysaccharide layers are coated onto a plastic base. The signal layer contains an immobilized antibody and a fluorescent-labeled hapten. A second layer, containing a pigment, acts as an optical screen. Sam...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-09-01 00:00:00
abstract：:Comparison of two methods for determining a substance is a common procedure in clinical chemistry. Almost without exception, normal theory statistics are used with the tacit assumption that the data under test show gaussian distributions. Experience has led us to question this assumption for populations of differences...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1975-03-01 00:00:00
abstract：:We compared the ionic activity of sodium, as measured with glass electrodes, with sodium concentration in 23 healthy persons, 15 persons with acute renal failure, and before and after dialysis in 46 patients with chronic renal failure. In healthy persons the mean (+/- SEM) sodium concentration was 139.1 +/- 0.6 mmol/L...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1985-11-01 00:00:00
abstract：:Peroxidation of lipids is believed to play a key role in various degenerative diseases. However, few simple tests are able to detect individual susceptibility or resistance to peroxidation. Measurement of the basal concentrations of lipid peroxides in plasma is not satisfactory because they are so low. Therefore, we d...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1991-10-01 00:00:00
abstract：BACKGROUND:Coffee consumption has been associated with several risk factors for coronary heart disease, including increased cholesterol, increased blood pressure, and increased plasma total homocysteine (tHcy). tHcy is determined by several B-vitamins. However, reports about the association between coffee intake and B-...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：10.1373/clinchem.2008.103465
更新日期：2008-09-01 00:00:00
abstract：:We adapted the method of McCaman and Robins for fluorometry of phenylalanine to a microplate assay for routine phenylketonuria screening. Sensitivity is 15 mumol/L for the plasma assay and 30 mumol/L for the dried blood-spot assay, with CV less than 10% for both assays. Results for human plasma by microplate assay cor...
journal_title：Clinical chemistry
pub_type： 杂志文章
doi：
更新日期：1989-10-01 00:00:00
