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SMFM 35th Annual Meeting — The Pregnancy MeetingTM
SMFM 35th Annual Meeting — The Pregnancy MeetingTM

... 1. To familiarize the participants with available options for simulating ultrasound guided needle procedures 2. To introduce the participants to curricula specific for different ultrasound guided needle procedures 3. To provide novice participants with instruction on the basics of ultrasound guid ...
Myotonic Dystrophy
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Use of Gene-Specific Primer Cocktails for First
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... The genes for α1-adrenoreceptors (α1ARs) con3′ end of the transcript. Lastly, a gene-specific tain a large (~16 kb) intron between the sixth and primer can be used to prime first-strand cDNA seventh transmembrane domains.3 The primers synthesis. The 5′ or 3′ bias is up to the experiSensitivity of co ...
DNA MUTATION, REPAIR, AND TRANSPOSITION
DNA MUTATION, REPAIR, AND TRANSPOSITION

... can add an ethyl group to any of the four bases. It can promote transitions and transversions. Nitrous acid replaces amino groups (–NH2) on nucleotides with keto groups (=O). It causes transitions by converting cytosine into uracil, which acts like thymine, and adenine into hypoxanthine, which acts ...
B.2 Specific Aims. The term `epigenetics` literally means `above the
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... DAT,[10] ANP,[11] NR2B,[12] NGF[13] and POMC.[14] Thus, it has been proposed that alcohol use may lead to deleterious changes in methylation and gene expression that could in turn have downstream effects on the development and maintenance of substance use disorders.[15] In fact, the effects of alcoh ...
Biophysics 101 Genomics and Computational Biology
Biophysics 101 Genomics and Computational Biology

... A consensus motif in the RFX DNA binding domain and binding domain mutants with altered specificity. A mutant Escherichia coli sigma 70 subunit of RNA polymerase with altered promoter specificity. A mutant of Escherichia coli with altered inducer specificity for the fad regulon. A mutation in the xa ...
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Maintenance of DNA Methylation during the Arabidopsis Life Cycle
Maintenance of DNA Methylation during the Arabidopsis Life Cycle

... control of FIS2 imprinting. Using a genetic approach, we investigated the role played by MET1 during the entire life cycle for the control of FIS2 and FWA imprinting. To this end, we investigated the effect of MET1 loss of function restricted to the vegetative developmental phase (with the MET1as li ...
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... bacterial cell wall. The most common procedures use a combination of strong base and a detergent. The detergents help to solubilize lipids in the cell wall, allowing the denaturants to enter the cell. Proteins, because of their fragile structures, are irreversibly denatured. The treatment also break ...
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... the genetic material, DNA (see fig. 1), and are generally divided according to size into gene mutations and chromosome mutations. Gene mutations refer to changes within a single gene, for example, substitutions of single component nucleotides, or small losses or additions of genetic material in expr ...
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The Genetics of SMA - Families of SMA Canada

... copy of the defective gene is inherited from each parent. This scenario is illustrated here. N designates a normal SMN1 gene and SMA a faulty SMN1 gene. (a) Parents of an affected individual are typically carriers of one defective copy of the disease causing gene and are unaffected by the disease. ( ...
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... copy of the defective gene is inherited from each parent. This scenario is illustrated here. N designates a normal SMN1 gene and SMA a faulty SMN1 gene. (a) Parents of an affected individual are typically carriers of one defective copy of the disease causing gene and are unaffected by the disease. ( ...
Prothrombin 20210 Mutation
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... may occur. Throughout the course of a normal day, the blood vessels sustain many minor injuries of which you are not aware. In response, the body naturally triggers the “clotting cascade”—a sequence of events that allows the blood cells (platelets) and clotting proteins to respond to the site of the ...
What Do You Mean, “Epigenetic”?
What Do You Mean, “Epigenetic”?

... geneticist Ernst Hadorn (1955) studied mutations by inducing changes in development through experimentation with chemicals or excision. Waddington, on the other hand, was more interested in the cellular processes that brought about these changes, rather than the stimuli that created them. One of Wad ...
LOSS OF HETEROZYGOSITY DUE TO SHORT-TRACT AND LONG-TRACT SACCHAROMYCES CEREVISIAE Thomas Coates
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A molecular method for assessing meiofauna diversity in marine
A molecular method for assessing meiofauna diversity in marine

... Sediment samples were collected from East Beach at Fort DeSoto Park, St. Petersburg, FL, in 1.5mL microcentrifuge tubes and stored at -80°C. DNA was extracted from the sediment using an SDS-based extraction buffer and series of phenol, phenolchloroform, and chloroform extractions, and ethanol-precip ...
genes-157686-revisions v2_untracked
genes-157686-revisions v2_untracked

File
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... • Cystic fibrosis ...
A G to C mutation in the CRYGD gamma crystallin gene associated
A G to C mutation in the CRYGD gamma crystallin gene associated

... which have two domain structures with four ´Greek-key` motifs. Li et al., [20] explains that the unique spartial arrangement and solubility of the crystallins make them play significant roles in the optical transparency and high refractive index of the lens. Any modifications of the crystallins are ...
B2 high demand application questions
B2 high demand application questions

... Explain how two healthy carriers of the cystic fibrosis allele could produce a child with the disease. Use the symbol A for the normal allele of the gene and a for the allele which produces the disease. You may use a diagram if you wish. ...
letter Widespread aneuploidy revealed by DNA microarray expression profiling
letter Widespread aneuploidy revealed by DNA microarray expression profiling

... expression profile (Fig. 4a). The compared with small rps24a∆/rps24a∆ colonies (c). Error bars represent error of the mean log10(ratio). genomic content data (Fig. 4c) precisely mirror the expression data in this region, suggesting the duplication can completely which contains the heteroallelic MATa ...
Technical standards and guidelines for reproductive screening in
Technical standards and guidelines for reproductive screening in

... aspartoacylase. Symptoms usually occur within the first few months of life and the disease is fatal in early childhood. The Ashkenazi Jewish carrier frequency is approximately 1 in 41 (Table 1) and carrier detection is based on the identification of two common mutations: E285A and Y231X, which accou ...
< 1 ... 37 38 39 40 41 42 43 44 45 ... 494 >

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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