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H28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in
H28+C Insertion in the CYP21 Gene: A Novel Frameshift Mutation in

... main consequence is an increased production of androgens, generally causing ambiguous external genitalia at birth in females, precocious puberty in males, and acceleration of somatic growth in both males and females. The SW form also involves impairment of aldosterone production, causing failure to ...
The Effects of Plasmids of Genotype and Phenotype
The Effects of Plasmids of Genotype and Phenotype

... Plasmids are small circular DNA molecules that often found in bacteria in addition to the large circular DNA molecule of the bacterial chromosome. Plasmid DNAs replicate independently of the bacterial chromosome, and many plasmids can also be transferred naturally among their bacterial hosts. Genera ...
The use of uterine artery Doppler in pregnancy induced
The use of uterine artery Doppler in pregnancy induced

... Comprehensive comparison of all previously published methods • Aquilina J. et al. (2000) examined 614 primiparous women by color flow/pulse Doppler imaging of both uterine arteries at 20 weeks gestation. Receiver operator characteristic (ROC) curves were created for the A/B ratio, RI and A/C ratio ...
NAR Breakthrough Article Identification of a mismatch
NAR Breakthrough Article Identification of a mismatch

... E. coli BL21 CodonPlus (DE3)-RIL (Agilent) cells transformed with pET-TK1898 were cultured in LB medium, containing 50 ␮g/ml ampicillin and 34 ␮g/ml chloramphenicol, at 37◦ C until the culture attained an OD600 greater than 2.0. An aliquot of the culture was transferred to 1 l of fresh medium, to pr ...
Geometrical ordering of DNA in bacteria
Geometrical ordering of DNA in bacteria

... Figure 1. Average subcellular position of genes as function of their position on the chromosome in C. crescentus and E. coli as obtained from numerical simulations of compacted DNA. (A and B) show the position of genes along the cell axis as function of their position on the chromosomal map for an a ...
Document
Document

... Multifactorial (also called complex or polygenic) mutation: This type is caused by a combination of environmental factors and mutations in multiple genes. For example, genes that contribute to breast cancer susceptibility have been attributed to abnormalities on chromosomes 6, 11, 13, 14, 15, 17, an ...
Newsletter 1
Newsletter 1

... common male ancestor. A similar test for a common female ancestor is also available using ‘mitochondrial’ DNA, but as names in our society pass down the male line, this is less useful for many family history purposes. Specific parts of the Y-chromosome known as ‘markers’ are used to make such compar ...
TURNING PAGES
TURNING PAGES

... with DNA and with bacterial and bacteriophage mutants (and, as a concurrent sabbatical activity, learned to fly!). Then, when Fred’s Charon bacteriophages were judged to be safe enough for use in cloning human genes, our groups collaborated in isolating and characterizing the two closely related gen ...
Characterization of two rice DNA methyltransferases
Characterization of two rice DNA methyltransferases

... filters were initially screened with an R8-specific probe (719 bp) using ULTRAhyb (Ambion) at 42EC for 16 h. Following two sequential washes with 2X SSC and 0.1% SDS at 50EC for 5 min and 0.1X SSC and 0.1% SDS at 50EC for 15 min, the filters were subjected to phosphorimager analysis (FUJIX BAS2000 P ...
CLASS 1 Introduction to genetics Dr. Szymon Zmorzyński A) TOPICS
CLASS 1 Introduction to genetics Dr. Szymon Zmorzyński A) TOPICS

... -Indications for karyotype examination. B) Obligatory book: L.B. Jorde, J.C. Carey, M.J. Bamshad “Medical Genetics (5th edition)” Chapter 6 ...
BIOT 3 Lecture 4 Gel Electrophoresis
BIOT 3 Lecture 4 Gel Electrophoresis

... • Limited in separating smaller molecules, smaller molecules have less of a difference between their mobility Discontinuous buffer system: • Different buffer ions and pH in the gel and in the electrode reservoirs. • Samples are loaded onto a non-restrictive large pore gel, called the “stacking” gel, ...
Whose DNA was sequenced for the Human Genome Project?
Whose DNA was sequenced for the Human Genome Project?

... An example is NHGRI's genetic variation mapping project, or HapMap, which will speed the discovery of genes related to common illnesses such as asthma, cancer, diabetes and heart disease. The HapMap should also be a powerful resource for studying the genetic factors contributing to variation in resp ...
j. Biol. Chem
j. Biol. Chem

... Biochemistry ...
Protocols for 16S rDNA Array Analyses of Microbial
Protocols for 16S rDNA Array Analyses of Microbial

... DNA Microarray Analyses SigmaScreen (Sigma) or CMT-GAPS (Corning Inc., Corning, New York) coated slides for microarrays may be used for the DNA array hybridization experiments. One µl (100 pmol/µl) of the complementary primers containing a 15-mer poly T tail at the 5’-end is spotted on the slide. ...
Add Health Biomarker - Carolina Population Center
Add Health Biomarker - Carolina Population Center

... Urine specimens were tested for CT and GC testing using Ligase Chain Reaction (LCR™) amplification technology in the Abbott LCx® Probe System. The assay required that 15-20 cc of first stream urine be collected in a plastic, preservative-free, sterile urine specimen collection cup from respondents ...
Fluctuation-Facilitated Charge Migration along DNA
Fluctuation-Facilitated Charge Migration along DNA

... reaction,” dominated by a “transition state” where the collective variables y and q assume a special value ( y ⴱ and u ⴱ , respectively). We are not aware of any of the linear-chain compounds exhibiting this curious form of charge transfer. On the other hand, a recent single-molecule optical study o ...
- Holterman
- Holterman

... Non-disjunction: abnormal meiosis, trisomy 13, trisomy 21 (Down’s Syndrome), klinefelter syndrome, monosomy, karyotype; use notes as reference Monohybrid Crosses: Genotype, Phenotype, Dominant, Recessive, Homozygous, Heterozygous, Punnett Square (be able to use one), Analysis; go over problems done ...
Chapter 31
Chapter 31

... • Pediatric patients are not little adults • Many providers have a level of discomfort responding to and caring for pediatrics • Pediatric patients respond differently to stressful events and that response will differ based on developmental levels • Common problems in adults do not occur in children ...
Binding of ColEl-kan Plasmid DNA by Tobacco
Binding of ColEl-kan Plasmid DNA by Tobacco

... plasmid-borne gene was tested. These results are quantitatively similar to those obtained by Uchimiya and Murashige (15) using Nicotiana glutinosa ?rotoplasts and [3H]DNA isolated from N. glutinosa (5.08 x 10- 4g DNA/protoplast). However, the numbers of genome equivalents represented by these two si ...
Animals and plants manage to make copies of themselves from one
Animals and plants manage to make copies of themselves from one

... been isolated and purified have been found to be made up of protein. For his work, Stanley won a share of the Nobel Prize for chemistry in 1948. Almost at once it was found that viruses contain more than protein. In 1937, an English biologist, Frederick Charles Bawden (1908- ) found that the tobacco ...
Handout - CIS Blank.Planning Template - DNA
Handout - CIS Blank.Planning Template - DNA

... Teacher models re-reading a portion of the text and generates one or two questions. Students continue to review/scan the text and use their recorded notes to generate questions about information in the text collaboratively or independently. To conclude question generation, the teacher has students: ...
Glaciecola psychrophila sp. nov., a novel psychrophilic bacterium
Glaciecola psychrophila sp. nov., a novel psychrophilic bacterium

... temperature was determined with a TN3F temperaturegradient incubator (Advantec). The pH range for growth was determined for the culture in MB at various pH values adjusted with HCl or NaOH (1 mol l21). General physiological tests were performed using conventional methods (Dong & Cai, 2001). Biochemi ...
Rearrangement
Rearrangement

... The exons that code for the variable regions of the immunoglobulin molecules and TCRs are called the variable (V) segments, diversity (D) segments, and junctional (J) segments, and those that code for the constant regions are called the C segments. ...
A rare and atypical female pseudohermaphroditism with phallic
A rare and atypical female pseudohermaphroditism with phallic

... Pseudohermaphroditism is always caused by the abnor-mal levels of the sex hormones or by abnormalities in the sex hormone receptors [2]. In the female pseudohermaphrodites the mullerian duct derivatives are normal and the anatomic abnormality is limited to the external genitalia. The female fetus i ...
Preimplantation Genetic Testing An Overview
Preimplantation Genetic Testing An Overview

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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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