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by: Robert Notetaker
Robert Notetaker

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Genetics, Disorders, and Traits notes.
DNA: Identify and Disease
Class Notes
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This 8 page Class Notes was uploaded by Robert Notetaker on Sunday March 6, 2016. The Class Notes belongs to at Brigham Young University - Idaho taught by in Winter 2016. Since its upload, it has received 14 views. For similar materials see DNA: Identify and Disease in Biology at Brigham Young University - Idaho.


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Date Created: 03/06/16
Turner Syndrome History: Named after Henry Turner (first person to describe it) (45X0) Phenotype signs and symptoms: knees bent in. Chest is deformed. Many deformities. Can not reproduce. Infertility 98% No sex hormones. Heart problems. Swollen feet. Karyotype Test: Dye chromosomes. Monosomy X: one x chromosome Mosaic Turner Syndrome: Some cells have full chromosomes, some do not. Statistics: 1 in every 2,500 females. 800 new cases. Inheritance: Only one X chromosome, Half of all cells are missing an X chromosome. Prevention and Treatment: No cure. Growth hormone injections. Hormones are used. SHOX gene associated with growth and bone development. Non-Disjunction Ectrodactyly: Split hand and foot syndrome. Bilateral and unilateral Diagnosis: Test DNA of the child. Chromosome 7 allele p63 between 1/10,000 and 1/90,000worldwide Be a carrior of a dominate gene and not have it. x-linked dominant or autosomal dominant or autosomal recessive. Chromosomal deletion, duplication… Arginine Histidine No cure: Prosthetics Angleman’s Syndrome: Dr. Harry Angleman 1965. Development Delays, Motor issues, lack of speech, no development regression, normal life span, life long care, 50% are misdiagnosed with autism. 6-12 months Affects male and female 50,000 Chromosome 15 from the mother. UBE3A Causes: Deletion, UPD, Imprinting, mutation. A lot going on in the brain: Shortened dentrites Happens spontaneously. Cases where the mother can pass it on. No cure-Can only treat symptoms. Anti-Seizure medication, physical theory, communication therapy, Behavior therapy, no current prevention Progeria: Accelerated aging in children. 18-24 months display symptoms. Progeria is a fatal heart disease. Poor skin healing. Arthritis and heart diseases. Short Stature. Appearance diagnosed within two years of birth. Underdeveloped skeleton. 1 in 8 million. 100 cases reported in the world. Autosomal Dominant. Possibly recessive. Found on chromosome 1 Change in the LMNA Gene. Found on exon 11. Lamina A vs. Progerin Can only treat symptoms. Nutritional therapy and growth hormone supplementation. Huntingtons: Description: Disease that affects the motor skills. The neurons degenerate and lose the ability of basic motor skills. The brain that controls the body Occurs 35-44 years of age. Eating and drinking are lost with this disease. The most devastation part is memory loss and psychological problems. Leads to death. Cardiovascular problems which is the last thing to go. Diagnosis: 200,000 cases per year in the U.S. Starts in the 30’s The inheritance pattern independent of gender. Autosomal dominant. Can affect any gender. Huntington gene. HTT for short. Trinucleotide repeat disorder. CAG. Molecular and biochemical features. Buildup of protein accumulate in the brain. Becomes toxic 25% of brains cells that die. Medications can be taken. No Cure and theorapy can be taken to help with the physical and psychological effects. Cystic Fibrosis: Estimated to be 52,000 years old. Buildup of really anything such as mucus. Many tissue buildup. Dr. Dorthy Anderson made the first description of cystic fibrosis. Lungs pancreas and digestion is affected. It is a very common disease and occurs one in every 27 children in America. 37.5 Years average age range. To test there is a test for high levels of salt… U.S.: 30,000 diagnosed with CF. Worldwide 70,000 affected. Mutation in the chromosome 7 and usually deletion of the three nucleotides that cause phenylalanine not to form accounts for 2/3 of all cases. It is inherited recessively. One copy of the CFTR to work properly. Oxygen treatments, medications such as steroids. Lungs stop functioning over time. Medicines could cure all the symptoms… Lifestyle changes such as exercise and eating more salted foods. Hemophilia Blood clotting problem. 200,000 problems in the US. Also called the royal disease. Symptoms and diagnosis: Large bruises, joint pain, join swelling, blood in urine and stools. Treated with large doses of medication. Factor viii found at the very tip of the chromosome. Causes the hemophilia. No cure to this disease. There are treatments available. There are 1 in 5,000 male births and can get it at 9 months. Can be diagnosed later in life. Fragile X Syndrome Mental retardation. Large head large face… More severe in males. Developmental delay. Discovered by 1943 by james urdon Martin and Julia Bell. Few outward expressions. Two tests to date. Southern blot analysis test. Polymerase chain reaction (PCR). Only to identify the FMR1 40-100 repeats. X Linked condition. The protein FMR1. No Cure, Therapy Services. Medication is involved. Description trisomy 21 Protein making birth defects and medical conditions. Three copies of Chromosomes 21. Diagnosis: Tests include Amniocentesis and Chorionic Villus sampling. After baby is borne they can do a chromosomal karyotype using a sample of blood. 1 in 691 children borne in the US have down syndrome. Three types of down syndrome happens in 95% in down syndrome most popular is trisomy 21 because of non disjunction three chromosomes are in one cell. Entire body has three chromosomes. Mosaicism- Somewhere down the line some cells have 45 and some have 46 chromosomes. 1% in cases: not common. Translocation: There is another 21 chromosome and is attached to another chromosomes and is attached to the 14 chromosome. Increase with the miR-155 and lack SNX27 protein used to make glutamate receptors. There is no cure. Physical theraphy, speech, occupational, emotional and behavioral. Marfan Syndrome: Disproportionately arms. Connective tissue disorder. Very long limbs. Affects heart aortic valve. Need corrective lenses. Fibrillin 1 Is used to make connective tissue. Twists together. Connective tissue is thinner and easier to tear. Affects growth and the division of cells. Diagnosis geneticist. 1 in 5,000 People. Two unaffected parents have a 1 in 10,000 chance. Autosomal Dominant. 25% mutation even with no familiar gene. FBN1 on the 15 Chromosome. Prevention and treatment: Medications to keep blood pressure low. Eyeglasses or contacts. Monitor sports activity and rare surgery. Tay Sachs Disease: Not apparent until 3-6 months. Sensitive to loud noises. Difficulty swallowing. Cherry red spot. Loss of vision and hearing. Diagnosis and testing: Blood tests. Very rare 1 in 20,000 US cases per year. Autosomal Recessive. Found on chromosome 15. HEXA gene contains information that creates an enzyme that plays a central a role in the central nervous system. No cure. Treating feeding tubs, physical therapy, muscle stiffness, respiratory issues, kid dies by the age of 5. Sickle Cell Anemia: Present in Africa. Low red blood cell count. Sickle shaped blood cells. Hemoglobin has a different chemical structure. Genetically passed. Mutation in the protein hemoglobin. Clot more often. Causes many acute and chronic health issues. Recessive. Must receive 2 copies of the gene. Blood screening, new born screening, prenatal screening. 1 in 13 African America born with sickle cell trait. Autosomal Recessive. Generation to generation. Hemolysis, improper function in blood cells. Polygenic Traits Polygenic Traits most of our traits are the result of the effect of several genes. Each gene an also have more than one allele. More sever disorders involve chromosome disorders. Karyotype Description 47, XY, +21, del(5p) (Nomenclature) Down Syndrome. Non-Disjunction: Coming together. Non Separation of the chromosomes 21- 18-never more than a year Aneuploidy: Extra or missing chromosomes Polyploidy: Euploidy-Normal # 23=n haploid 46=2n diploid 3n 4n 6n Polyploidy is much more common in plants than in animals Inversion flipped Chromosome Reciprocal translocation: Can happen in different chromosomes. Chimeras: One of the cells get one or none. Half of the cells in the body have down syndrome and half are normal. Genetic Testing: How can we tell? Chrionic Villus sampling. Do genetic tests on it. Amniocentesis: Ladies over 40. Long needle to collect amniotic fluid. Contains a lot of the babies cells. What is amniocentesis? Money $ lots of it. Variable Expressivity Polydactyly- Variable expressivity Same mutation in same gene but the way gene is expressed is different. Dominant allele. Pleiotropy- One gene can affect many phenotypes Questions asked: 1. In every generation? If yes consider dominant or y linked in no consider recessive 2. Mother to son 3. Look at #’s of males and female 4. Only males y linked 5. Mostly males x recessive 6. Mostly females- x dominant Autosomal Dominant- Every generation. Father has it also daughters and sons. Autosomal Recessive traits males and females equally likely to have the traits. Traits skip generations. X-Linked Recesssive Traits skip a generation. More males than females have it. X-Linked Dominate- Dad has it, all daughters have it. Moms will give it to half of sons Y-Linked traits- All males have the trait. Can not pass it to females Genetic Info: Genetic Modification- Selective breeding and the traditional gene modification. Genetic Engineering: Horizontal gene transfer and cloning (GMO’s) Selective breeding: Crossing foods in the orchard Build a factor 8 gene. Bacterial Regulatory. Plasmid Vector is the DNA ring. The restriction enzymes come and cut the DNA latter. Covalent bonds hold the s and the p and two base pairs are held by hydrogen bonds. Restriction enzyme cuts a specific sequence. Incompatible- Two different sticky ends. Restriction enzymes loves palindromic sequences. AAATTT TTTAAA Transformation: Plasmid into the bacteria cell. Factor 8 Drug: The use of a protein to inject into the body. This whole unit is going to be new to us and very complicated. It will take a lot of effort to understand. On the X chromosomes. Factor viii Start viii Regulatory Region, Where and how much Stop E.coli: Use E.coli to manufacture this protein. Collect it and spate it from the bacteria. Stick a regulatory region in front of the gene. Paste regulatory gene on the regulatory region. 2 Problems: Attach a regulatory region and get a factor viii in. Trick is getting a E. Coli specific. Molecular scissors. Put this into a plasmid vector. It is in a circle form.


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