Abstract:
BACKGROUND:Hereditary hemorrhagic telangiectasia (HHT) is an autosomal-dominant vascular disorder with three disease-causing genes identified to date: ENG, ACVRL1, and SMAD4. We report an HHT patient with allelic dropout that on routine sequence analysis for a known mutation in the family (c.817-3T>G in ENG) initially seemed to be homozygous for the mutation. AIM:To explore the possibility of allelic dropout causing a false result in this patient. METHODS:Mutation analysis of additional family members was performed and haplotype analysis carried out. New primers were designed to reveal the presence of a possible sequence variant, which could explain the presumed allelic dropout. RESULTS:Allelic dropout caused by a six-nucleotide duplication close to the standard reverse primer was the assumed cause of a false homozygous diagnosis. CONCLUSION:Sequence variants outside of the primer regions can be the cause of allelic dropout, creating unforeseen errors in genotyping. Our finding emphasizes the need for careful quality control in all molecular genetic studies.
journal_name
Genet Test Mol Biomarkersjournal_title
Genetic testing and molecular biomarkersauthors
Tørring PM,Kjeldsen AD,Ousager LB,Brasch-Andersen C,Brusgaard Kdoi
10.1089/gtmb.2012.0230subject
Has Abstractpub_date
2012-12-01 00:00:00pages
1419-23issue
12eissn
1945-0265issn
1945-0257journal_volume
16pub_type
杂志文章abstract::Aim: To determine the differences in the frequencies of polymorphic variants at the rs4244285(*2), rs4986893 (*3), rs12248560 (*17), loci of the CYP2C19 gene, and the rs2305948 locus of the VEGFR-2 gene in patients receiving clopidogrel treatment as part of a 30-day clinical outcome trial in the Russian and Buryat reg...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2019.0216
更新日期:2020-06-01 00:00:00
abstract::The L1 cell adhesion molecule (L1CAM) is a protein encoded by a gene that has been localized to Xq28, is a member of the immunoglobulin superfamily of neuronal cell adhesion molecules, and plays a role in CNS development and maturation. L1CAM is expressed in neurons and Schwann cells, where it is active in neurite ove...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0017
更新日期:2009-08-01 00:00:00
abstract:BACKGROUND AND OBJECTIVE:Essential hypertension (EH) is a complex phenotype that is affected by multiple genetic and environmental factors. Some authors have explored the role of genetic variability of the glutathione S-transferase (GST) enzymes in EH risk with contrasting results. In particular, our previous study inv...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0310
更新日期:2012-06-01 00:00:00
abstract:AIMS:Receptor activator of nuclear factor-kappa B ligand (RANKL), its receptor activator of nuclear factor-kappa B (RANK), and decoy receptor osteoprotegerin (OPG) are three major proteins of the RANKL/RANK/OPG signaling pathway encoded by TNFSF11, TNFRSF11A, and TNFRSF11B, respectively. This pathway plays a critical r...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2015.0306
更新日期:2016-06-01 00:00:00
abstract::A 26-year-old woman with secondary amenorrhea and turneroid stigmata was found to have a 46,X,rea(X)(qter→p11.2::q21.2→qter)/46,X,del(X)(qter→p11.2:) mosaicism in 101 G-banded metaphases (71 and 30, respectively). The mother's karyotype was normal (the father was already deceased). A fully skewed inactivation of both ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,评审
doi:10.1089/gtmb.2011.0017
更新日期:2011-10-01 00:00:00
abstract:AIMS:The purpose of the study was to develop a new assay for genotyping nine single nucleotide polymorphisms (SNPs) that are known to be associated with melanoma. METHODS:Two-stage single tube polymerase chain reaction (PCR) followed by hybridization on a biochip was developed and applied in the study. RESULTS:A tota...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2015.0272
更新日期:2016-04-01 00:00:00
abstract::To evaluate the associations between four single-nucleotide polymorphisms (SNPs) in CYP4A11 and CYP4F2 and ischemic stroke (IS), and between these variants and atherothrombotic events after stroke. IS patients (n=396) and controls (n=378) were genotyped for two CYP4A11 SNPs (rs2269231 and rs9333025) and two CYP4F2 SNP...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0305
更新日期:2015-05-01 00:00:00
abstract:AIMS:Deregulation of the long noncoding RNA IRAIN has been identified in several cancers. However, the expression pattern of IRAIN and its clinical implication in acute myeloid leukemia (AML) are unknown. The purpose of this study was to investigate the expression status of IRAIN and its clinical significance in non-M3...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0281
更新日期:2018-05-01 00:00:00
abstract:BACKGROUND:Although environmental factors play an important role in susceptibility to myocardial infarction (MI), genetic determinants also provide a significant contribution. This study aimed to determine whether or not MI susceptibility is influenced by the SDF1-rs1801157A/G and HHEX-rs1111875 A/G polymorphisms in an...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0023
更新日期:2017-08-01 00:00:00
abstract::Founder mutations, particularly 35delG in the GJB2 gene, have to a large extent contributed to the high frequency of autosomal recessive nonsyndromic hearing loss (ARNSHL). Mutations in transmembrane channel-like gene 1 (TMC1) cause ARNSHL. The p.R34X mutation is the most frequent known mutation in the TMC1 gene. To s...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0174
更新日期:2010-06-01 00:00:00
abstract:AIMS:To identify potential novel gene mutations in Chinese patients with dyschromatosis symmetrica hereditaria (DSH). METHODS:We enrolled 8 Chinese patients with familial DSH, 5 Chinese patients with sporadic DSH, and 100 randomly selected healthy individuals in this study. The genome of each participant was extracted...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0207
更新日期:2018-02-01 00:00:00
abstract:: Objective: Pancreatic cancer (PC) is a serious disease with poor outcomes, and its prevalence has been increasing steadily. The circadian rhythm (CR) is involved in multiple physiological events and maintains homeostasis. Alterations in the CR elevate the risk of developin...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2020.0179
更新日期:2020-12-29 00:00:00
abstract:BACKGROUND:Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant inherited disease. This study was carried out to investigate the genetic and functional changes within the FOXL2 gene in two Chinese families with BPES. MATERIALS AND METHODS:DNA was extracted from the peripheral blood ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2018.0064
更新日期:2018-10-01 00:00:00
abstract::Genotypic profiles of the natural killer cell immunoglobulin-like receptors (KIR) have been reported to vary among different ethnic groups and variable clinical entities. This study represents the first report on its distribution among patients with familial Mediterranean fever (FMF). We studied 56 unrelated Lebanese ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2008.0081
更新日期:2009-02-01 00:00:00
abstract:AIMS:Polymorphisms in DNA damage repair genes may affect DNA repair capacity and modulate breast cancer susceptibility. In this study, we aimed to analyze two polymorphisms for each of the DNA repair genes X-ray repair cross-complementing group 1 (XRCC1) rs25487 and rs1799782 and excision repair cross-complementing gro...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2015.0001
更新日期:2015-07-01 00:00:00
abstract::Despite the knowledge of many genetic alterations present in ovarian cancer, the complexity of this disease precludes placing its biology into a simple conceptual framework. Lysyl oxidase (LOX) is an extracellular matrix enzyme that catalyzes the cross-linking of collagens or elastin in the extracellular compartment. ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0374
更新日期:2012-08-01 00:00:00
abstract:BACKGROUND:Urothelial carcinoma (UC) is the most common histologic subtype of bladder cancer. The administration of mitomycin C (MMC) into the bladder after transurethral resection of the bladder tumor (TURBT) is a common treatment strategy for preventing recurrence after surgery. We previously applied hydrostatic pres...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2013.0443
更新日期:2014-06-01 00:00:00
abstract:: Aim: Spinal muscular atrophy (SMA) is an inherited, autosomal recessive neuromuscular disease that causes high morbidity and mortality. The prevalence is 1-2/100,000, while the incidence is 1/6000-1/10,000 among live births. Due to the high carrier frequency (1/40-1/60) of...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2020.0085
更新日期:2020-09-01 00:00:00
abstract:AIMS:We assessed the validity of a next-generation sequencing protocol using in-solution hybridization-based enrichment to identify NF1 mutations for the diagnosis of 86 patients with a prototypic genetic syndrome, neurofibromatosis type 1. In addition, other causative genes for classic genetic syndromes were set as th...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1089/gtmb.2014.0109
更新日期:2014-11-01 00:00:00
abstract::Duchenne's muscular dystrophy and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the dystrophin gene. In this project, 100 unrelated male patients were initially screened for deletions in the dystrophin gene by multiplex polymerase chain reaction, of whom 52 were positive. We p...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0057
更新日期:2011-12-01 00:00:00
abstract:BACKGROUND:Next-Generation Sequencing (NGS) is the latest approach for preimplantation genetic diagnoses (PGD). AIM:The purpose of this study was to standardize and validate an NGS method for comprehensive chromosome screening and to investigate its applicability to PGD. METHODS:Embryo biopsy, whole-genome amplificat...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2017.0108
更新日期:2017-11-01 00:00:00
abstract:: Introduction: Cell-free DNA (cfDNA) methylation is an important molecular biomarker, which provides information about the regulation of gene expression in the tissue of origin. There is an inverse correlation between SOST gene methylation and expression levels. ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2020.0172
更新日期:2021-01-01 00:00:00
abstract::Sarcoidosis is a complex disease with autoimmune basis and still unknown etiology. We have screened for mutations in the cystic fibrosis conductance regulator (CFTR) gene and genotyped single-nucleotide polymorphisms in the tumor necrosis factor (TNF), interferon alpha-10 (IFNA10), IFNA17, and interferon gamma (IFNG) ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0198
更新日期:2010-08-01 00:00:00
abstract::Genes and their products involved in the biological pathways of human cancers have been studied as either targets of new therapies, or predictive markers for the sensitivity of or resistance to the therapies. Companion diagnostic testing on biological markers for targeted cancer therapies has become a vital component ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章,评审
doi:10.1089/gtmb.2012.0510
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND AND AIMS:Recently, genetic association studies have linked a number of single nucleotide polymorphisms (SNPs) with liver fibrosis risk of hepatitis C. The present study was designed to validate the association of emerging SNPs with development of liver cirrhosis and chronicity in a Chinese population infecte...
journal_title:Genetic testing and molecular biomarkers
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1089/gtmb.2013.0058
更新日期:2013-09-01 00:00:00
abstract::The aim of the study was to determine (1) the frequency and type of mutations in the coding region of the GJB2 gene (sequencing), (2) the frequency of splice site mutation IVS1 + 1G > A in the GJB2 gene (multiplex ligation-dependent probe amplification analysis), (3) possible copy number changes in the GJB2, GJB3, GJB...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2009.0073
更新日期:2009-10-01 00:00:00
abstract:AIMS:Surviving under a stressful environment may be a real challenge. Individuals (and their offspring) with accumulated genetic variation in their DNA repair genes may have a higher probability to survive under these conditions. A partially unstable DNA repair system raises the mutagenesis rate and the probability for...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2014.0053
更新日期:2014-08-01 00:00:00
abstract:BACKGROUND:Epigenetic alterations in the global DNA methylation status may be associated with an increased risk of some cancer types in humans. The methylenetetrahydrofolate reductase (MTHFR) gene is involved in folic acid metabolism and plays an essential role in inherited DNA methylation profiles. The common 677 C>T ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2011.0347
更新日期:2012-07-01 00:00:00
abstract::Polymorphisms in DNA repair genes may be associated with differences in the repair efficiency of DNA damage and may influence an individual's risk of atherosclerosis. Genetic research on coronary artery disease (CAD) has traditionally focused on investigation aimed at identifying disease-susceptibility genes. The aim ...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2012.0383
更新日期:2013-04-01 00:00:00
abstract:BACKGROUND:Advances in next-generation sequencing (NGS) technologies are driving a shift from single-gene to multigene panel testing for clinical genetic cancer risk assessment (GCRA). This study explored perceptions, experiences, and challenges with NGS testing for GCRA among U.S. community-based clinicians. METHODS:...
journal_title:Genetic testing and molecular biomarkers
pub_type: 杂志文章
doi:10.1089/gtmb.2015.0061
更新日期:2015-12-01 00:00:00