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Genetic Disorders

What are genetic disorders caused by? Genetic disorders are caused by DNA abnormalities.
When do small-scale irregularities occur? (These are also called single-gene disorders) These can occur during DNA replication when new complementary strands of DNA are synthesized.
Explain spontaneous mutation. An error that arises naturally during DNA assembly.
What is a neutral mutation? A mutation that does not affect the function of the protein.
Cystic fibrosis is a single-gene disorder. Explain the cause and effect. The gene for a chloride channel is mutated. When this channel does not function properly, chloride ions build up inside the cell and do not pass outside the cell. This can cause chronic bronchitis, malnutrition, and bacterial infections.
Sickle-cell anemia is a single-gene disorder. Explain the cause and effect. Caused by a mutation in the hemoglobin gene. When oxygen levels are low, the mutant proteins clump up into long structures that deform red blood cells. These cells can clog small blood vessels. This can cause pain, weakness, and tissue damage.
Huntington's disease is a single-gene disorder. Explain the cause and effect. A protein called huntingtin is mutated in such a way that it contains excess repeats of the DNA nucleotides CAG.
Phenylketonuria is a single-gene disorder. Explain the cause and effect. Caused by a mutation in the liver enzyme phenylalanine hydroxylase. The mutated enzyme doesn't properly metabolize phenylalanine. Symptoms are largely brain-related: Improper brain development, brain damage, and seizures.
What do large-scale mutations cause? Large-scale mutations cause abnormalities in chromosomal structure.
Explain nondisjunction. Extra copies of chromosomes or portions of chromosomes result due to errors in meiosis.
Down Syndrome is a multi-gene disorder. Explain the cause and effect. The typical cause of this disorder is called trisomy 21 (receiving 3 copies rather than 2 of chromosome 21). Individuals affected by Down syndrome commonly have mental retardation, heart and respiratory defects, and other physical abnormalities.
Explain aneuploidy. Results when an individual's chromosome number is abnormal, usually by one more or one less.
Turner syndrome is an example of monosomy, a form of aneuploidy caused by the absence of a chromosome as a result of nondisjunction. Explain what happens with Turner syndrome. One of the X chromosomes is partially or entirely missing. Symptoms in females: physical abnormalities (broad chest, a low hairline, low set ears, swelling, and reproductive sterility), various autoimmune disorders and poor development of organ tissues.
Williams syndrome is a multi-gene disorder. Explain the cause and effect. Arises from the deletion of about 25 genes from chromosome 7. Cognitive disability, developmental delays, cardiac defects, and physical abnormalities all can result from Williams syndrome.
Klinefelter syndrome is a multi-gene sex chromosome disorder than affects males. Explain the cause and effect. Individuals with Klinefelter syndrome have two X chromosomes and one Y chromosome. The primary symptoms include reduced male hormonal function, leading to reduced fertility, and some delay in learning and motor developmental.
Explain multi-factorial disorders. Disorders arising from environmental factors combined with mutations in multiple genes.
Alzheimer's disease is a multi-factorial disorder. Explain the cause and effect. Alzheimer’s is associated with environmental risk factors such as head trauma and high blood pressure. Additionally, the nutrients in many healthy foods are likely to reduce the occurrence of Alzheimer’s disease. Results in dementia and memory loss.
True or False: Many types of cancers are considered multi-factorial diseases True.
What are autosomal dominant disorders? An autosomal dominant disorder is one that arises if even just one allele is mutated.
Huntington's disease is an example of an autosomal dominant disorder. Explain how this is passed down. If only one allele contains the repeated nucleotide, the disease will manifest.
Neurofibromatosis type 1 is an example of an autosomal dominant disorder. Explain the cause and effect. A mutation occurs in the gene responsible for producing neurofibromin. The neurofibromin protein is important in determining cell division cycles. The mutation ultimately causes non-cancerous growths and skin malformations.
Marfan syndrome is an example of an autosomal dominant disorder. Explain the cause and effect. Caused by a mutation in a gene called fibrillin 1. Symptoms include: physiological defects (cardiac and respiratory problems), physical abnormalities, visual problems, and learning disability.
Hereditary non-polyposis colorectal cancer syndrome (Lynch syndrome) is an example of an autosomal dominant disorder. Explain the cause and effect. Involves mutations in genes that are important for DNA mismatch repair. Mismatch repair is a process that naturally happens in humans that helps to correct malfunctioning DNA. Lynch syndrome commonly leads to a high risk of colorectal cancer.
Hereditary multiple exostoses is an autosomal dominant disease . Explain the cause and effect. It has been linked to three mutated genes. Characterized by multiple bone tumors.
Explain autosomal recessive disorders. An individual must have two copies of dysfunctional, or mutant, alleles in order to have an autosomal recessive disorder.
True or False: sickle-cell disease and cystic fibrosis are not examples of autosomal recessive disorders. False. They are examples.
Tay-Sachs disease is an autosomal recessive disorder. Explain the cause and effect. Caused by a mutation in a gene that codes for an important enzyme. Without the properly functioning enzyme, phospholipids build up in nerve cells.
Niemann-Pick disease is an example of an autosomal recessive disorder. Explain the cause and effect. Cause: Mutations that ultimately cause problems with metabolizing lipids. These lipids collect in various organ tissues throughout the body. Symptoms include motor impairments, seizures, and other physiological abnormalities.
Spinal muscular atrophy is an example of an autosomal recessive disorder. Explain what happens. Characterized by muscular degeneration. The onset of symptoms occurs at different ages. Progressive muscle weakness occurs until eventual death between the ages of two and three.
Explain sex-linked disorders. Caused by mutations in genes on the X or Y chromosome.
Rhett syndrome is an X-linked disease. Explain the effect for females and males. Females with two mutated X chromosomes typically die before birth, same with males. Females with only one affected X chromosome involves impairments in hand use, language development, and social engagement.
True or False: Rhett syndrome almost exclusively affects females. True.
Incontinentia pigmenti is an X-linked disorder. What does this affect? Mainly affects females. It is lethal to most males. It affects skin, hair, teeth, nails, and the nervous system. It is often characterized by discoloration of the skin.
True or False: Females can be affected by Y-linked disorders. FALSE. Females do not receive a Y chromosome.
Y chromosome infertility can cause _______________. A partial defect in sperm production, low numbers of sperm which are motile, or a complete failure to produce sperm.
What does genetic testing identify? Genetic testing identifies abnormalities in chromosomes, genes, or proteins.
True or False: Genetic testing may indirectly test for gene products (proteins), or directly test for diseased alleles. True.
What is gene therapy? the introduction of cloned genes into living cells to replace an abnormal, disease-causing gene. It aims to correct the genes responsible for diseases.
If someone who is homozygous for an autosomal recessive disorder mates with a person who does NOT carry the mutated gene their child will ________. 0% chance of developing the disease.
An autosomal dominant disorder requires ________ in order to affect an individual. one copy of a mutated gene
Which of the following is an example of an autosomal dominant disorder? (Marfan syndrome, Williams syndrome, Tay-Sachs disease, Neimann-Pick disease) Marfan Syndrome
True or False: Genetic testing can predict whether or not a parent will pass on a diseased allele to their next child. False.
What is true regarding all X-linked disorders? They are caused by mutations of the X chromosome
Which of the following is an example of an autosomal recessive disorder? (hereditary multiple exostoses, Neimann-Pick disease, cystic fibrosis, rhett syndrome) Neimann-Pick disease
The primary goal of gene therapy is to give a patient __________________________. a new, normal single gene
An autosomal recessive disorder requires ________ in order to affect an individual. Two mutated copies of the gene
True or False: Gene therapy does not involve replacing a damaged chromosome. True.
Which of the following is not a category of genetic disorders? (single-gene, environmental, multi-factorial, chromosomal) Environmental.
Which of the following is not an example of a sex-linked disorder? (male infertility, spinal muscular atrophy, incontinetia pigmenti, Rett syndrome) Spinal Muscular Atrophy
Which one of the following is not a benefit of the human genome project? (improved DNA forensics, increased understanding of genetic diseases, improved understanding of human evolution, proof of the theory of evolution) Increased understanding of genetic diseases.
Created by: JustEmma
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