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    with molecular genetic testing or with non-genetic testing. Genetic testing is when the test for the amount of CTG repeats in the DMPK gene. Normal alleles have 5-34 repeats. Premutation alleles have 35-49 repeats, this means that the patients does not show symptoms but their children are at increased risk of inheriting a larger repeat size. Full penetrance alleles have more than 50 repeats. Non-genetic testing includes an electromyography (EMG), if a patient has myotonic dystrophy the doctors will see

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    Most of the carriers of Huntington disease are usually childhood victims (Donaldson, Marsden, Schneider, & Bhatia, 2012). From this point of view, an increase in the length of the CAG section causes the production of an abnormal form of the Huntington protein (Donaldson, Marsden, Schneider, & Bhatia, 2012). The lengthened defective protein is then cut into smaller and defective fragments that bind neurons together, which in turn disrupts their required functions of the brain. The abnormal functioning

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    Dm1 Research Paper

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    Myotonic Dystrophy Type I, also known as Steinert’s disease or Dystrophia Myotonica (abbreviated DM1) is the most common form of muscular dystrophy. Hans Steinert was the first to describe the disease in 1909 when he noted atrophy of multiple muscles in patients with myotonia(Steinberg and Wagner 2008). Batten and Gibb of Britain also described wasting of stenomastoids, vastus internus and forearm muscles as well as difficulty releasing grasp in their 1909 paper (Batten and Gibb 1909). Fleischer

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    Minisatellites Essay

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    non-coding region carries some regulatory elements such as promoters and enhancers but in many cases it also contains repetitive elements, e.g. multiple repeats (Turner et al., 1998). These repetitions include satellite DNA, which comprises thousands of tandem repeats in one site, as well as minisatellite and microsatellite DNA, depending on the number of repeats (Vanhala et al., 1998). These minisatellites are defined regions of DNA with polymorphisms in the number of repeated nucleotide

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    Introduction Huntington’s disease is a neurodegenerative disorder that is inherited in an autosomal dominant fashion. The cytoplasmic protein affected in Huntington’s disease is Huntingtin, coded for by the Huntingtin gene. The mutated version of the Huntingtin protein has several degenerative consequences on the molecular level. These are mainly caused by the elongated chain of glutamines that abberantly interacts with proteins and diminishes their biological functions. The mutated protein also

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    For male active duty U.S. Army personnel, the cumulative rate for repeat gonorrhea infection was 13.71%. This estimate was higher compared with that reported in a systematic review conducted by Fung et al. (2006), who, after reviewing the PubMed literature published between January 2000 and August 2006, reported that the median percentage of repeat infection among men was 7.0%, and ranged from 0% to 30.8%. The variation in study designs included in this systematic review, the different years of

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    Huntington’s disease is a chronic and fatal neurological disorder caused by a trinucleotide repeat. It is caused by a genetic defect on chromosome four that causes a CAG repeat. When the number of repeats exceeds a certain amount, a neurological disease results. In a normal person, this section of DNA is repeated 10 to 35 times, but in a person with Huntington’s disease it is repeated 36 to 120 times. The disease is genetic and is passed down in families. If one parent has Huntington’s disease offspring

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    a. RATIONALE: It’s not uncommon to find bloodstains at a crime scene, especially if a violent crime has been committed. These bloodstains are crucial for forensic scientists because, when analyzed, they can fill in details about the crime that was committed and even help investigators solve the case. Each bloodstain is distinctive and it’s size and shape is dependant upon several factors like velocity, location, and angle of impact. For this experiment, I will be investigating bloodstain pattern

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    Nestle Marketing Essay

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    1. Using the BASES model described in Exhibit 9, forecast the estimated demand (trial & repeat) for the 2 pizza options under consideration: Pizza & Topping and Pizza Only. Most of the data needed for the forecasting exercise is available on pages 14, 15 and on page 34 (Exhibit 21). a Hints: In exhibit 21, there is a big difference between Contadina pasta users and non-users ... This will obviously affect the forecast depending on what proportions are used for Contadina users versus non-users in

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    offenders, more specifically repeat offenders. Courts think that due to the fact that they are repeat offenders they should suffer the same consequences as adults because the action is believed to be intentional. Teenage repeat offenders should not suffer the same consequences as adults because most of them are victims by situation, and they need time to grow. When people think of juveniles they think of troubled kids, not criminals with vile intentions. Even though teenage repeat offenders end up doing

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