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Hanane ElSayed

on 29 March 2015

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Transcript of Bio-11.1

Cystic Fibrosis 4. Galactosemia 3. Tay-Sachs disease 1. The cells don't produce melanin (white hair, very pale skin and pink pupils)
2. Causes problems with vision.
3. Patients need extra UV protection for the skin. 2. Albinism 1. Cystic fibrosis
2. Albinism
3. Galactosemia
4. Tay-Sachs disease
5. Phenylketoneuria (PKU) Examples of recessive genetic diseases Genotype . Mendel's work was ignored for years
. Dr. Garrod studied alkaptonuria Recessive Dominant A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Genetic Disorders Pedigrees Chapter 11, Lesson 1 Basic Patterns of Human Inheritance 1. One of the most common diseases
2. Chloride ions aren't absorbed into the cells, but released in sweat making it thicker
3. Thick mucus blocks passageways and increases risk of infections
4. Treatment includes physical therapy, medication, diet and replacement enzymes.
5. Can be detected by genetic testing 1. Inability to digest galactose (a product of breaking down lactose in milk)
2. Patients don't produce GALT enzyme (responsible for changing galactose to glucose)
3. Patients have to avoid milk. 1. A mutant gene on chromosome 15.
2. Characterized by a cherry-red spot on the back of the retina.
3. TSD predominant among Jews of eastern european descent.
4. Caused by an enzyme deficiency for the enzyme responsible for breaking down gangliosides (that accumulate in the brain and cause mental disorders) 1. If a person is homozygous for a recessive trait it will show
2. If a person is heterozygous he will be a carrier Patients who don't have these diseases are homozygous for the recessive allele. A diagram that traces the inheritance of a particular trait through several generations. Examples of dominant genetic diseases 1. Huntington's disease
2. Achondroplasia 1. Huntington's disease 1. Affects the nervous system
2. First found in patients between 30 and 50 yrs.
3. Symptoms include loss of brain function, emotional disturbance and uncontrollable movements. 2. Achondroplasia 1. AKA dwarfism
2. 75% of patients with achondroplasia are born to normal height parents, therefore is a new mutation or genetic change. Example Analysis Inferring genotypes 1. Analyzing phenotypes of entire families
2. Determining if a disease is dominant or recessive
3. Done by a genealogist Predicting disorders 1. Done for future offspring, if family history is known.
2. Needs good record keeping, and limited by time, ethics and circumstances. 5. Phenylketonuria (PKU) 1. A recessive genetic disorder characterized by a mutation in the gene for the enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (This enzyme is necessary to metabolize the amino acid phenylalanine (Phe) to the amino acid tyrosine. When PAH activity is reduced, phenylalanine accumulates and is converted into phenylpyruvate (also known as phenylketone), which is detected in the urine).
2.Untreated PKU can lead to mental retardation, seizures, and other serious medical problems.
3.The mainstream treatment includes diet supplemented by a medical formula containing amino acids and other nutrients.
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