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What`s New From 2016 - University of Colorado Denver
What`s New From 2016 - University of Colorado Denver

... More women will be receiving anti-coagulation with the new consensus bundle on venous thrombo-embolism prophylaxis. What labs? Does LMWH cause detectable changes in TEG? • In vitro study using blood from term parturients with dalteparin added to produce standardized anti-Xa activity. • Significant d ...
Microcephaly
Microcephaly

... “Microcephaly vera” or true microcephaly has been defined as genetic conditions in which the brain is abnormally small because of reduce number of neurons , but is keeping normal Gyral pattern and being uncomplicated by other anomalies present at birth, with normal pregnancy, delivery, and postnatal ...
Genetics and Hearing Loss
Genetics and Hearing Loss

... is known as “Long QT syndrome” When associated with SNHL results in a condition called Jervell-Lange-Nielsen JLN is inherited as an autosomal recessive condition, but heterozygotes display long QT intervals Genetic testing for JLN is available clinically genes involved are KVLQT1 and KCNE1 ...
Methylation of an upstream Alu sequence on the Imprinted H19
Methylation of an upstream Alu sequence on the Imprinted H19

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Novel Imprinted DLK1/GTL2 Domain on Human Chromosome 14
Novel Imprinted DLK1/GTL2 Domain on Human Chromosome 14

... monoallelically expressed in 11 tissues from five different human conceptuses. The expressed allele was determined to be of maternal origin by genotyping matching maternal decidua tissue (Fig. 1B). Using an alternative experimental approach, Miyoshi et al. (2000) recently identified a maternally exp ...
Molecular Testing Applications in Coagulation
Molecular Testing Applications in Coagulation

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Somatic BRAF Mutation - Lynch Syndrome Screening Network
Somatic BRAF Mutation - Lynch Syndrome Screening Network

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The role of the SRY gene in determing sex.

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causes2 - Families Against Cancer & Toxics

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Inheritance - Immune Deficiency Foundation
Inheritance - Immune Deficiency Foundation

... identify the sex of the fetus. For conditions that are X-linked, identification of the sex will help determine whether the fetus could be affected by the disease (if male) or could be a possible carrier (if female). The fetal sample can also be used to provide DNA (deoxyribonucleic acid) for gene te ...
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From Gene to Protein

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Chinese company edits pig DNA, develops piglets that will stay pet

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description of the Biobank
description of the Biobank

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... within the CNV but also their flanking regions, an effect that could even extend over the entire length of the chromosome. Genomic coverage of coding regions and their upstream and downstream regions can vary between different platforms that are currently being used to study CNVs. DNA sequencing tec ...
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Structure and function of nucleases in DNA repair: shape

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Gene mapping today: applications to farm animals
Gene mapping today: applications to farm animals

... Probes of considerably greater genetic complexity have a high probability of containing interspersed repetitive sequences, usually widely distributed throughout the genome, which will result in a non-specific hybridization signal. However, protocols designed to suppress these unwanted signals with a ...
GMOD: Identifying Genetically Modified Organisms in Food
GMOD: Identifying Genetically Modified Organisms in Food

... you will use PCR to amplify two genes. • The first gene, known as NPTII, is part of the vector used to create many GMOs. • The second gene is a 16S ribosomal gene associated with plant chloroplast DNA. Because this gene is present in all plants, it serves as a control to see if your DNA extraction a ...
Epigenetics and Inheritance
Epigenetics and Inheritance

... DNMT1 gene is named hereditary sensory and autonomic neuropathy type IE (HSAN IE) and is characterized by a gradual loss of intellectual function (dementia), deafness, and sensory problems in the feet. The mutation occurs in exon 20 of the gene which reduces or eliminates the function of the transla ...
Unit Plan: Genetics Biology 9-12
Unit Plan: Genetics Biology 9-12

... chromosomes of each cell, and that heredity is the passage of these instructions from one generation to another. SC.912.N.3.5 - Describe the function of models in science, and identify the wide range of models used in science. SC.912.L.16.3 - Describe the basic process of DNA replication and how it ...
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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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