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Genetic Disorders

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A genetic disorder is a topic in Science that cannot be avoided. The fact is that genetic disorders can happen in humans, plants or animals, to date no form of life is documented as being safe from a genetic disorder. A genetic disorder can appear in the beginning stages of life or can appear much later in life when least expected. A fundamental principle of biology states that the behavior of chromosomes during the meiosis process can account for genetic inheritance patterns (quote). There are many reasons for genetic disorders; genetic disorders primarily caused by specific abnormalities observed in several genes. Categorized into four major types such as a single gene, multi‑factorial, chromosomal, and mitochondrial disorders. To date, there …show more content…

Cytogenetics [si″to-jĕ-net´iks] involves techniques such as Karyotyping (G-Banding): A karyotype is the number and appearance of chromosomes in the nucleus of a eukaryotic cell. The term also used for the complete set of chromosomes in a species or an individual organism (NIH).
Fluorescence in Situ Hybridization (FISH): Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cells, including specific genes or portions of genes. Additionally, used for understanding a variety of chromosomal abnormalities and other genetic mutations …show more content…

A deoxyribonucleic acid (DNA) based test which allows for high-resolution scanning of the entire genome. Microarray provides information on thousands of genes in a single test. It can precisely define the missing or extra genes. CMA used as a diagnostic tool for individuals with unexplained DD, ASD and intellectual disability (ID), and, in the prenatal setting, primarily as an alternative to karyotyping. Prenatally, CMA requires an invasive procedure to collect intact fetal cells (for example, amniocentesis or chorionic villous samplingCMA is used as a diagnostic tool for individuals with unexplained DD, ASD and intellectual disability (ID), and, in the prenatal setting, primarily as an alternative to karyotyping. Prenatally, CMA requires an invasive procedure to collect intact fetal cell, e.g., amniocentesis or chorionic villous sampling which tests chromosomal or genetic disorders in the fetus

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What is the term for the random arrangement of homologous pairs of chromosomes during the first division of meiosis? Independent Assortment 5. What role does the Polymerase Chain Reaction (PCR) play in producing a DNA Profile? PCR amplifies the regions of DNA with short tandem repeats and uses primers with fluorescent labels. This works by replicating the region of DNA several times.

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Inheritance by Dr. Sharon Moalem is an exceptional book. Dr. Moalem’s goal for writing this book is to convey a new idea of genetics and inheritance to the reader. In middle school and high school we were taught that our genetics comes from our parents and that they are fixed throughout our lifetime, but Dr. Sharon Moalem brings the idea that the environment may alter them. He states that the food we eat and the trauma we endure during life can imprint onto our genes. Dr. Moalem works with rare genetic disorders where he accumulates his knowledge from research to help treat his patients with changing some environmental factors in their lives.

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Sanders found it unnecessary for a chorionic Villus sampling to find out if her child had a chromosome deformities. She also opt of taking the maternal blood screening test, because she was not at risk (M. Sanders, personal communication, January 30, 2016). The Amniocentesis test help deal with a pregnancy if a disorder is found. Fetal MRI are used for a detail image of the child and often use for to better detect abnormalities. The chorionic villus sampling is use to find genetic defects.

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Copeland carefully selects words in the introduction to emphasize an overall nonchalance in compiling such comprehensive information, “Over the past five years, as the price of DNA testing kits has dropped and their quality has improved, the phenomenon of ‘recreational genomics’ has taken off,” (Copeland). The use of “recreational” suggests the practice of gathering broad scientific information lacks gravity. In fact, the author contrasts the word with more levity with the use of “genomics”, a concrete science that affects the structure and function of genetic information. The dramatic usage indicates to the audience that users of DNA testing are incapable of understanding all possible consequences of accessible genetic testing. Traditions of past generations provide a foundation for the identity of future generations.

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Short tandem repeats are also called microsatellites. STR’s are considered to be small genetic markers found in genomic DNA that consists of two to six base pair sequence that is repeated one after the other five to 100 times. STR’s are used to determine paternity by matching STR with offspring. If the STR is not from the mother, then is has to be from the father. A lab instructor provides a micropipette, which is used to extract given DNA

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From that, we know the gene is on an autosome, which is a non-sex chromosome. The word recessive tells us that the individual has to be a homozygous recessive, with two copies of the gene, to express the trait or disorder. One is inherited from the mother, and one from the father. Carriers, individuals who only have one recessive gene, are not affected by the disease but are able to pass it down to their children. Most people are not aware they carry a recessive gene for a disease until they have a child with the disease.

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The next thing we talked about was a genetic disease. Genetic disease is a disease that doesn't have a cure and is passed down through generations. Finally we learned about designer babies. Designer babies are when parent get to pick so of there kids traits. For example this is where a parent can pick blue eyes and brown hair for there child.

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Cystic Fibrosis is a serious genetic disorder that affects the insides of a human body. Cystic Fibrosis is a genetic condition in which the lungs and the insides of the human body become clogged with thick sticky mucus. The mucus builds up inside of the body and affects the insides like the lungs, liver , pancreas, your sinuses, and more. Cystic Fibrosis also affects the digestive system which makes food harder and a longer time to digest. Some symptoms for cystic fibrosis are salty-tasting skin(sweat), poor growth, and poor weight gain despite normal food intake.

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The medical model looks at a mental illness as a result of physical problems within the body such as genetic faults, a chemical imbalance, or abnormal brain structure. Which means it can be treated medically. For instance there is evidence from brain scans to show that people who live with anorexia have increased activity within the serotonin systems and higher levels of dopamine receptors within the brain (News.bbc.co.uk, 1999). The medical model is the most recognised, most supported and most used when it comes to mental illness.

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In this research paper, I would like to cover the different gene mutations, and three specific mutations: down syndrome, cystic

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• Analysis & Interpretation is the process of quantitatively and qualitatively comparing DNA evidence samples to known DNA profiles. • Quality Assurance is the process of reviewing analyst reports for technical

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There has to be one copy of this defective gene in each parent in order for a child to have this disease. The defective gene is called cystic fibrosis transmembrane conductance regulator gene or CFTR gene. This gene controls

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An example of a chromosomal disorder is down

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D Assessment DNA technology Forensic testing 24.11.2014 Marius Martinsen 10D Introduction: I have chosen to investigate Forensic testing, it is also known as DNA profiling or genetic fingerprinting. During this essay I will discuss what the disadvantages and what the advantages of forensic testing are. I will also talk about how forensic testing is carried out. Forensic testing is used to identify an individual by using the DNA sequences of that person.

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DNA in forensic science The majority of cells making up the human body are diploid cells carrying identical DNA, with the exception of haploid gametes and red blood cells. Several types of biological evidence such as blood and hair are commonly used in forensic science, which is the scientific study of evidence for crime scene investigations and other legal matters. Forensic science is used for the purpose of DNA analysis, this is the analysis of DNA samples to determine if it came from a particular individual. DNA analysis is done by obtaining DNA samples from an individual; next, a large sample of DNA is produced from amplified selected sequences from the DNA collected.

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