Search results for "Buccal swab"

showing 5 items of 5 documents

Esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant newborn twins: first report

2018

Key Clinical Message Recent studies report a high incidence of monozygotic twinning in Beckwith–Wiedemann syndrome. A phenotypical discordance in monozygotic twins is rare. Twinning and Beckwith–Wiedemann syndrome show higher incidence in children born after assisted reproductive techniques. We report on the first observation of esophageal atresia and Beckwith–Wiedemann syndrome in one of the naturally conceived discordant monozygotic twins.

0301 basic medicinePediatricsmedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesbuccal swabAssisted reproductive techniquesBuccal swabBeckwith–Wiedemann syndromeCase ReportCase Reports030105 genetics & heredity03 medical and health sciencesmedicinebusiness.industryIncidence (epidemiology)Monozygotic TwinningGeneral MedicineKCNQ1OT1 genemedicine.disease030104 developmental biologyAtresiaAssisted reproductive techniques buccal swab hypomethylation KCNQ1OT1 gene phenotypical discordance.phenotypical discordanceKCNQ1OT1 genebusinesshypomethylation
researchProduct

Description of microsatellite markers and genotyping performances using feathers and buccal swabs for the Ivory gull (Pagophila eburnea)

2011

We report 22 new polymorphic microsatellites for the Ivory gull (Pagophila eburnea), and we describe how they can be efficiently co-amplified using multiplexed polymerase chain reactions. In addition, we report DNA concentration, amplification success, rates of genotyping errors and the number of genotyping repetitions required to obtain reliable data with three types of noninvasive or nondestructive samples: shed feathers collected in colonies, feathers plucked from living individuals and buccal swabs. In two populations from Greenland (n = 21) and Russia (Severnaya Zemlya Archipelago, n = 21), the number of alleles per locus varied between 2 and 17, and expected heterozygosity per populat…

0106 biological sciencesGenetics0303 health scienceseducation.field_of_studyBuccal swabPopulationZoologyBiology010603 evolutionary biology01 natural sciences03 medical and health sciencesFeathervisual_artGenotypeMultiplex polymerase chain reactionGeneticsvisual_art.visual_art_mediumMicrosatelliteMultiplexeducationGenotypingEcology Evolution Behavior and Systematics030304 developmental biologyBiotechnologyMolecular Ecology Resources
researchProduct

Quantification of fluorescent STR genotyping results for chimerism control after bone marrow transplantation

2003

1. IntroductionEngraftment of donor stem cells after allogeneic bone marrow transplantation can begenetically monitored by PCR typing of DNA polymorphisms [1]. Successful engraftmentwith complete chimerism and presence of the donor’s genotype in the bone marrow has tobe demonstrated, and the presence of the patient’s alleles has to be excluded. Detection ofthe patient’s alleles provides evidence for an incomplete chimerism or for a relapse ofmalignant disease. STRs have been used successfully for this type of genetic monitoring[2]. For the present study, we have developed an approach to quantify the ratio of donorchimerism using mock mixture experiments. The usefulness of our approach is de…

CD3Buccal swabGeneral MedicineBiologyPeripheral blood mononuclear cellMolecular biologyTransplantationmedicine.anatomical_structureImmunologyGenotypebiology.proteinmedicineBone marrowStem cellGenotypingInternational Congress Series
researchProduct

Results of a collaborative study of the EDNAP group regarding mitochondrial DNA heteroplasmy and segregation in hair shafts.

2004

Abstract A collaborative exercise was carried out by the European DNA Profiling Group (EDNAP) in order to evaluate the distribution of mitochondrial DNA (mtDNA) heteroplasmy amongst the hairs of an individual who displays point heteroplasmy in blood and buccal cells. A second aim of the exercise was to study reproducibility of mtDNA sequencing of hairs between laboratories using differing chemistries, further to the first mtDNA reproducibility study carried out by the EDNAP group [Forensic Sci. Int. 97 (1998) 165]. Laboratories were asked to type 2 sections from each of 10 hairs, such that each hair was typed by at least two laboratories. Ten laboratories participated in the study, and a to…

GeneticsMitochondrial DNATransition (genetics)integumentary systemBuccal swabGenetic VariationSequence Analysis DNABiologyDNA MitochondrialHeteroplasmyPathology and Forensic MedicineDNA profilingMutationHumansTypingLawHairForensic science international
researchProduct

Frequency of micronucleus in oral epithelial cells after exposure to mate-tea in healthy humans

2014

Objectives: The aim of this study was to evaluate the possibility of technique simplification for cytology slides in order to evaluate the frequency of micronuclei (FMic) and conduct a experiment looking to know the FMic of oral epithelial cells of healthy volunteers exposed to mate tea (Ilex paraguarariensis). Material and Methods: This is a laboratorial and nonrandomized trial (quasi-experiment), where the nonusers subjects were exposed to mate-tea, consumed in the traditional way, two drinks, two times a day for a single week. Two cytology of exfoliated epithelial cells were obtained before and after the mate tea exposition. Results: The sample was composed by 10 volunteers. The age rang…

AdultMaleAdolescentBuccal swabPhysiologyOdontologíaToxicologyBeveragesYoung AdultIlex paraguariensisCytologyHealthy volunteersMedicineHumansGeneral DentistryConventional techniqueMouthOral Medicine and PathologyMicronucleus TestsHuman studiesbusiness.industryResearchfood and beveragesEpithelial Cells:CIENCIAS MÉDICAS [UNESCO]Ciencias de la saludOtorhinolaryngologyAcute exposureMicronucleus testUNESCO::CIENCIAS MÉDICASSurgeryFemalebusinessMicronucleusMedicina Oral, Patología Oral y Cirugía Bucal
researchProduct