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Caspary T, Cleary MA, Baker CC, Guan XJ, Tilghman SM. Mol Cell Biol. 1998 Jun;18(6):3466-74. Multiple mechanisms of imprinting on distal mouse chromosome 7.
Caspary T, Cleary MA, Baker CC, Guan XJ, Tilghman SM. Mol Cell Biol. 1998 Jun;18(6):3466-74. Multiple mechanisms of imprinting on distal mouse chromosome 7.

... (BTBR " M. spretus)F1 " BTBR. In contrast to the previous report, our mapping places H19 at the centromeric end and p57Kip2 at the telomeric end of the cluster (Fig. 1A, right). Our gene order is based on results with three recombinant animals, whereas the other study found only one such animal. The ...
Perinatal mortality in hospitals of the State of São Paulo
Perinatal mortality in hospitals of the State of São Paulo

... stillbirths and 6,546 live births, of which 28 died in the first week of life. Variables related to the mother, the pregnancy, the delivery and the conceptus were studied. Results: the perinatal mortality coefficient was 12.7 per 1,000 births, 66.7% of the conceptuses were stillbirths and 33.3% were ...
An assessment of the risks associated with the
An assessment of the risks associated with the

... gold).12–14 In this case, the DNA is permanently established in the plant cell by recombination into the plant cell genome. Insertion may be locus-specific by homologous recombination (see sub-section Homologous recombination in section Bacterial DNA transfer and recombination systems), but can be r ...
Subclinical Thyroid Disease and the Incidence of Hypertension in
Subclinical Thyroid Disease and the Incidence of Hypertension in

... heart failure, and atherosclerotic vascular disease.1,6,8,29 Finally, subclinical hypothyroidism has been shown to cause endothelial cell dysfunction characterized by diminished nitric oxide production with impaired vasorelaxation.12 A second observation that strengthens the biological plausibility ...
Karyotype Indications - Atlas of Genetics and Cytogenetics in
Karyotype Indications - Atlas of Genetics and Cytogenetics in

... Sterility workup once gynaecological or endocrine causes have been ruled out (Klinefelter, Turner, Testicular feminization). If more than two spontaneous miscarriages cytogenetic studies are indicated on the parents to rule out a translocation carrier; a foetal karyotype is recommended if at all pos ...
Screening Mutant Libraries of Fungal Laccases in the Presence of
Screening Mutant Libraries of Fungal Laccases in the Presence of

... S. cerevisiae clones carrying parent-type or mutant laccase genes were grown in 50 mL preculture in YPAD supplemented with 4% sterile raffinose instead of glucose as the carbon source. After 24 h at 30 °C, 210 rpm, 200 mL expression medium containing 6 mM CuSO4 was inoculated with the preculture. Af ...
Lesson Plan, GeneChip® Microarrays: Teacher`s Guide
Lesson Plan, GeneChip® Microarrays: Teacher`s Guide

... may decide to use this module and the activities in it to supplement a unit on DNA, genetics, or even one on the Human Genome Project. The entire module is organized to go from a basic introduction of the GeneChip microarray and then build from there. After the basic introduction, the module moves o ...
The msh2 Gene of Schizosaccharomyces pombe Is
The msh2 Gene of Schizosaccharomyces pombe Is

... red colonies and white colonies originate by forward mutations in genes upstream of ade6 in the adenine pathway, by mutations in suppressor genes, or less frequently by reversion of the original ade6 mutations. White-sectored colonies were rare in wild-type strains but occurred in the majority of co ...
Distortion of quantitative genomic and expression
Distortion of quantitative genomic and expression

... regarding reproducibility of these techniques have been raised by cross-validation studies in different laboratories (1–5). Strategies to mitigate variability in the results obtained from replicate studies have focused on standardizing technical factors, such as array production, RNA synthesis, labe ...
Lecture 4
Lecture 4

Rare Disease Handbook - University College Dublin
Rare Disease Handbook - University College Dublin

... or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. ...
annotation and analysis of newly discovered mycobacteriophage
annotation and analysis of newly discovered mycobacteriophage

... mycobacteriophage genomes have been grouped into clusters using the a program called Splitstree, which compares gene phamilies found in phages as well as possible alternative phylogenetic relationships between them.1 There has been an increase in the size of existing clusters, from the original clus ...
1 - IPPC
1 - IPPC

... indicated in Figures 1 and 2 are the minimum requirements for the diagnosis, but further tests may be required by the national plant protection organization (NPPO), especially for the first report in a country. For example, serological tests may facilitate a presumptive diagnosis of symptomatic plan ...
fourth quarter atlas analysis
fourth quarter atlas analysis

... • Add A product peak fragment size and corresponding allelic ladder Genes in same size, was named digital ...
1 Natural Selection 2 Mutation
1 Natural Selection 2 Mutation

... allele variant of a protein. Either the protein works (normal/wild type) or it doesn’t (mutant). There are many more ways to make a protein that doesn’t work than one that does, so generally u  v. However, when considering DNA sequences it is not reasonable to neglect back mutation. If A → C with p ...
How to determine recessive-lethal mutation rates.  David D. Perkins Background
How to determine recessive-lethal mutation rates. David D. Perkins Background

... present in male Drosophila. Presence of a lethal mutation anywhere in the X chromosome was revealed by absence of males in the progeny of females that were heterozygous for the irradiated chromosome. Because Neurospora is haploid, and because recessive genes can be sheltered in a heterokaryon, prese ...
Analysis and nucleotide sequence of an origin of DNA replication in
Analysis and nucleotide sequence of an origin of DNA replication in

... Restreaking on minimal plates with Ap yielded 16 candidates. From these the plasmid DNA was prepared from 3 ml overnight cultures and retransformed to A. calcoaceticus BD413 trpE. The transformants were plated on LB-Ap plates and minimal medium Ap plates. Four plasmids yielded roughly the same numbe ...
Transcripts of the MHM region on the chicken Z chromosome
Transcripts of the MHM region on the chicken Z chromosome

... The male hypermethylated (MHM) region, located near the middle of the short arm of the Z chromosome of chickens, consists of approximately 210 tandem repeats of a BamHI 2.2-kb sequence unit. Cytosines of the CpG dinucleotides of this region are extensively methylated on the two Z chromosomes in the ...
DNA breathing dynamics distinguish binding from nonbinding
DNA breathing dynamics distinguish binding from nonbinding

... identifies two probable YY1 consensus binding sites that are centered at positions 243 and 18 upstream of the transcriptional start site (TSS). We assembled gel shift reactions with recombinant YY1 protein and the 33P-labeled 18 bp long 243YY1 and 18YY1 PLG oligonucleotides comprising the YY1 consens ...
Thrombophilia assessment: what should the
Thrombophilia assessment: what should the

... VTE phenomena. Thus, guidelines for assessment and treatment are basically related to the general risks of VTE. The limitations of guidelines Guidelines are not without limitations. First, they might be totally inaccurate because the scientific evidence is either not available or its interpretation ...
Document
Document

Atomistic understanding of kinetic pathways for single base
Atomistic understanding of kinetic pathways for single base

... methyltransferase enzyme has been investigated in a similar manner. Most closely related to the present work, Pohorille et al. (18) determined the free energy for unbinding of an end base pair in DNA as a function of the distance between hydrogen-bonding groups and obtained a single 0.45-ns molecula ...
Level 3, 2004
Level 3, 2004

... recognise and use appropriate concepts and processes specified in the achievement standard. These candidates could accurately give the characteristics of protein synthesis, nucleotides and mutations, and gave accounts for allele interactions, gene-gene interactions and factors that affect gene expre ...
Chromosome Rearrangements - Western States Genetics Services
Chromosome Rearrangements - Western States Genetics Services

... usually completed within one to two weeks. If one parent has the same inversion as the fetus, there are usually no problems. The parent’s normal development proves there were no genes harmed when the chromosome broke and reattached. However, if neither parent has the inversion, then there is a chanc ...
Gene regulation in three dimensions
Gene regulation in three dimensions

... Gene regulation has traditionally mainly been viewed as a 1D and possibly 2D process. In the 1D view the genome is seen as a linear string of nucleotides, where one or more transcription factors (TFs) bind to transcription factor binding sites (TFBSs), and thereby regulate the expression of genes th ...
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Cell-free fetal DNA

Cell-free fetal DNA (cffDNA) is fetal DNA circulating freely in the maternal blood stream. It can be sampled by venipuncture on the mother. Analysis of cffDNA provides a method of non-invasive prenatal diagnosis.cffDNA originates from the trophoblasts making up the placenta. It is estimated that 2-6% of the DNA in the maternal blood is fetal in origin. The fetal DNA is fragmented and makes its way into the maternal bloodstream via shedding of the placental microparticles into the maternal bloodstream (figure 1). Studies have shown that cffDNA can first be observed as early as 7 weeks gestation, and the amount of cffDNA increases as the pregnancy progresses. cffDNA diminishes quickly after the birth of the baby, so that it is no longer detectable in the maternal blood approximately 2 hours after birth. cffDNA is significantly smaller than the maternal DNA in the bloodstream, with fragments approximately 200bp in size. Many protocols to extract the fetal DNA from the maternal plasma use its size to distinguish it from the maternal DNA.Studies have looked at, and some even optimized, protocols for testing non-compatible RhD factors, sex determination for X-linked genetic disorders and testing for single gene disorders. Current studies are now looking at determining aneuploidies in the developing fetus. These protocols can be done earlier than the current prenatal testing methods, and have no risk of spontaneous abortion, unlike current prenatal testing methods. Non-invasive prenatal diagnosis (NIPD) has been implemented in the UK and parts of the US; it has clear benefits above the standard tests of chorionic villi sample (CVS) and amniocentesis which have procedure-related miscarriage risks of about 1 in 100 pregnancies and 1 in 200 pregnancies, respectively.As a method of prenatal diagnosis, cell-free fetal DNA techniques share the same ethical and practical issues, such as the possibility of prenatal sex discernment and sex selection.
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