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Genetics
Genetics

... • Confirmation: FISH (Fluorescent in situ hybridization) for  chromosome 21 (Reported in 48‐72 hours) and  karyotyping (reported in 2‐ 3 weeks) • Need for cytogenetic testing: Down syndrome occurs due  to non‐dysjunction of chromosome leading to trisomy 21  or due to unbalanced Robertsonian transloc ...
Analysis of Cross Sequence Similarities for Multiple - PolyU
Analysis of Cross Sequence Similarities for Multiple - PolyU

... regions found within one chromosome sequence. Biocompress proposed by Grumbach and Tahi (1993) is the first algorithm designed specifically for compressing DNA sequences. Both Biocompress and its second version Biocompress-2 (Grumbach and Tahi, 1994) are based on a sliding window algorithm known as ...
Siberian Husky - Purina Pro Club
Siberian Husky - Purina Pro Club

... “A few Aussies with cataracts do not carry the HSF4 mutation, which led us to speculate that another yet unidentified mutation in a different gene simultaneously circulates in the Aussie population and plays a role in the development of hereditary cataracts,” Mellersh says. A DNA test was developed ...
Two novel heterozygous mutations of EVC2 cause a mild phenotype
Two novel heterozygous mutations of EVC2 cause a mild phenotype

... A considerable number of EvC cases have already been screened for mutations, including the systematic screening of 65 EvC cases in which all coding exons of both genes were sequenced [Tompson et al., 2007]. With the exception of two families reported by Temtamy et al. [2008], all EvC patients screen ...
Genetic Polymorphism of Human CYP2E1
Genetic Polymorphism of Human CYP2E1

... To evaluate the functional importance of the mutations in the CYP2E1*2 and CYP2E1*3 alleles, site-directed mutagenesis was used to introduce these mutations into the wild-type CYP2E1 cDNA. The cDNAs were inserted into the pCMV4 expression vector and subsequently expressed in COS-1 cells. For compari ...
Compaction of Duplex Nucleic Acids upon Native
Compaction of Duplex Nucleic Acids upon Native

... 16-mer) and a B-helix for longer ones (>18-mer). It is worth noting that Bowers’ IMS experiments were performed in non-native solution conditions (49:49:2 mixture of H2O:MeOH:NH4OH) and on high charge states (1 negative charge per 2 base pairs), raising questions on whether this represents what happ ...
Information for couples where one partner carries
Information for couples where one partner carries

... Haemoglobin S/D disorder is uncommon, but it is very similar to sickle cell anaemia, the commonest type of sickle cell disorder. The following information applies for both conditions. People with sickle cell anaemia are almost always anaemic, but the other problems are unpredictable.  About one thi ...
RT2 Profiler PCR Arrays: Pathway-focused gene
RT2 Profiler PCR Arrays: Pathway-focused gene

... pathway or disease state and three RNA quality control elements (see Figure 2 for the layout of a typical RT2 Profiler PCR Array). Researchers are able to focus on genes related to their biological pathway or disease state with our pre-designed pathway- or application-specific gene panels. By limiti ...
Biology 30 January 2000 Diploma Examination and Key
Biology 30 January 2000 Diploma Examination and Key

... Developments within the fetus determine when birth will begin. The production of fetal cortisol delays birth until gestation is complete. During early fetal development, fetal hormones do not pass into the mother. High levels of progesterone in the mother’s blood are essential for birth to begin. ...
Imprinting and Seed Development
Imprinting and Seed Development

... site of fertilization, is completely embedded within the maternal sporophytic tissues of the ovule. The most prevalent type of mature female gametophyte is a seven-celled organism consisting of three antipodal cells, two synergid cells, an egg cell, and a diploid central cell. The function of the an ...
Towards Programmable Molecular Machines
Towards Programmable Molecular Machines

... Machines (TMs) or Deterministic Finite Automata (DFAs). Our results: In this paper, we propose autonomous DNA walkers that can simulate arbitrary Turing machines within expected O(n) time, where n is the number of operations for the Turing machine. This shows that our walker can do many interesting ...
Bacteriophage A cloning system for the construction of
Bacteriophage A cloning system for the construction of

... allow for the isolation of eukaryotic genes expressed at low frequencies. Oligonucleotide probes or antibodies to eukaryotic gene products are widely used for screening bacterial libraries (3-7). Despite advances, the construction of cDNA libraries still remains an arduous task, particularly if one ...
7nQ Jj I f NO "7^07 - UNT Digital Library
7nQ Jj I f NO "7^07 - UNT Digital Library

... During the course of my thesis work, I was required to read a genetics textbook, with which I had not previously read. As I read this book, I realized that there was still much information to which I had not previously been exposed. My thesis work offered a new way for me obtain knowledge that I di ...
Utility of Serum Bilirubin Screening during the
Utility of Serum Bilirubin Screening during the

... significant hyperbilirubinaemia. Based on our results we do not believe that routine testing should be done at less than 24 hours without a clinical indication. The majority of our neonates were tested at 12 hours because the blood test was collected at the same time as the CRP. TCB measurement devi ...
an amicus brief - Center for Reproductive Rights
an amicus brief - Center for Reproductive Rights

... Dilation and Evacuation. In the second trimester of pregnancy (approximately 13-26 weeks LMP), when vacuum aspiration is no longer effective, over 95% of induced abortions are performed using the method known as dilatation and evacuation (“D&E”). See Strauss et al., supra, at 31 tbl. 18. Although in ...
Regulation and Flexibility of Genomic Imprinting
Regulation and Flexibility of Genomic Imprinting

... mammals and seed plants, postfertilization nutrient provision is at the cost of the mother only, a situation that reduces the resources available for future offspring. Thus, in polygamous organisms with a placental habit, maternally expressed genes are expected to favor parsimonious distribution of ...
(base) sequence of the genome might reflect biological information
(base) sequence of the genome might reflect biological information

... frequency of genome base sequences [20]. We have studied many genome sequences down-loaded from databases like NCBI [21], and calculated the appearance frequencies of an optional base sequence (key sequence) in a genome. Subsequently, we determined the sequence spectra of chromosome, gene and DNA fr ...
PierceEtAl2004BioBull - Region 11 Math And Science Teacher
PierceEtAl2004BioBull - Region 11 Math And Science Teacher

... Abstract. We have employed electron microscopic, biochemical, and moleculartechniquesto clarify the species of origin of the "Chilean Blob," the remains of a large sea creature that beached on the Chilean coast in July 2003. Electron microscopy revealed that the remains are largely composed of an ac ...
Information for couples where one partner carries Beta
Information for couples where one partner carries Beta

... You come to the fetal medicine unit at the hospital, in the morning. Ideally both parents come together. The fetal medicine team do an ultrasound scan to see exactly where the baby and the placenta are. Then they do the test that is most suitable for you. You are not put to sleep. You go home a few ...
View PDF - OMICS International
View PDF - OMICS International

... biological differences of aneuploidies depending on the meiotic origin, it may well be due to a loss of heterozygosity or higher homozygosity of the embryos originating from meiosis II errors. The data provides the first evidence for possible viability differences dependent on the meiotic origin of ...
Serum `uracil + uridine` - Journal of Clinical Pathology
Serum `uracil + uridine` - Journal of Clinical Pathology

... Collection no. 7963) is on first isolation strictly uracil dependent. After several subcultures it has in our hands undergone a fairly sudden change whereupon it grows profusely in the absence of uracil. This has happened with three separate freeze-dried subcultures and occurs after daily subculture ...
PowerPoint 프레젠테이션
PowerPoint 프레젠테이션

... Duration Studies: Long Term Reduction with Hygromycin Selectable Plasmid Reduction of GFP after three weeks of hygromycin selection ...
Congratulations on Your Pregnancy Women’s Specialists I
Congratulations on Your Pregnancy Women’s Specialists I

... X-rays for medical diagnosis and working in areas where radiation levels may be high, ought to be avoided—especially during the first trimester. Most x-rays can be avoided or postponed until after the birth. After the first trimester, shields should be used to minimize fetal x-ray exposure in the ev ...
Hemophilia
Hemophilia

... but rather the Y chromosome (responsible for male characteristics), but all their daughters will be carriers. ...
A catalogue of imprinted genes and parent-of
A catalogue of imprinted genes and parent-of

... when mutant Rb is paternally inherited). In an unexplained observation, the parental origin of a chromosomal rearrangement near RB affected the NruI restriction enzyme digestion pattern. ...
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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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