Transcript: Topic 3 The polymerase chain reaction (PCR) is a biochemical technology in molecular biology to amplify a single or a few copies of a piece of DNA across several orders of magnitude, generating thousands to millions of copies of a particular DNA sequence. Polymerase Chain Reaction Polymerase Chain Reaction Topic 5 Revolutionizing Genetics and Manipulation Prezi Topic 4
Transcript: Prosthetics, Cloning and Eugenics Cloning In 1901, Hans Spemann successfully split a 2-cell salamander embryo, which developed into two complete organisms. This showed that an early embryo cell has all the genetic information necessary to develop into a new organism. In 1914, he performed the first successful nuclear transfer experiments. Then, in 1938, Spemann published the book “Embryonic Development and Induction,” which explained the transfer of the nucleus of one egg (the somatic cell) into an enucleated egg cell. This became the basis for subsequent cloning experiments. In 1962, F. E. Steward was able to grow a complete carrot plant from a fully differentiated carrot root cell; this showed the possibility of cloning from differentiated cells. In 1998, a group of scientists in South Korea, called Clonaid, claimed to have cloned a human being. However, evidence did not exist to support this claim. Artificial Embryo Twinning: A two-celled embryo (or any early embryo) is manually separated into two individual cells, and each cell is left to divide on its own. After some time to allow for independent development (on a Petri dish), the two separate embryos are then implanted into a surrogate mother. The two babies should be genetically identical, since they are produced from the same zygote. Relevance: With cloning experiments, it has been shown that the genetic material of a completely differentiated somatic cell, not just a stem cell, can actually be used to generate an entire, new organism. This is because each somatic cell has a copy of the organism’s DNA. In each cell, certain genes from DNA may be ultimately expressed as specific proteins and drive the cell’s specific function. However, it seems as though this very specific gene expression is turned off when the nucleus of a somatic cell is isolated and placed into an egg cell. Originally, an egg cell would have a combination of genes (23 chromosomes from each parent in humans) given by the egg and sperm together. However, with SCNT cloning, the DNA of the egg cell is replaced with that of a somatic cell, which only contains genes from one individual. During the developmental phase, the early embryonic cells replicate their DNA and undergo mitosis. Even if clones are genetically identical, they are not always physically identical. The environment factors into how the organism forms and turns out. Also, some traits, such as the color and pattern of a female cat’s coat, involve randomly-occurring X chromosome inactivation, so it is not determined exclusively by DNA. Eugenics A Brief History Francis Galton, who coined the term eugenics in 1883, perceived it as a moral philosophy to improve humanity by encouraging the ablest and healthiest people to have more children. However, there is more negative definition of it: culling the “unfit” from the population by sending the people to asylums, sterilizing and sometimes even forcibly killing them. The movement became popular in the early 1900s under a backdrop of social unrest, war and the declining birthrate of the wealthy. Scientists and other supporters of eugenics saw that the population of the lower classes (those with less money and/or education) was rising rapidly while the population of the wealthy and educated was declining. Seeing that charity, religious organizations and social work were of little help to the urban poor, genetics was used to explain social problems such as poverty and criminality. In 1907, Indiana became the first state to pass a law permitting involuntary sterilizations on eugenic grounds; at least 30 states would follow suit. Many of them simply adopted a model "eugenical sterilization law," crafted by the Eugenics Record Office's (ERO) Harry Laughlin, which called for compulsory sterilizations of the "socially inadequate." By the mid-1920s, more than 3,000 people had been sterilized against their wills. These included the homeless, orphans, epileptics, the blind and the deaf. Also sterilized were those who scored poorly on IQ tests, who were diagnosed as being "feebleminded." In the late 1930s, eugenics began to lose popularity due to independent scientists’ investigations that disproved the theory. With the dawn of World War II and the Holocaust, which was done in the name of eugenics, the popularity of eugenics dried up, with organizations such as the ERO shutting down. However, states continued to forcibly sterilize people they deemed “feebleminded” or mentally ill until the 1970s, peaking with a time when 33 states were enforcing such practices. Methods of Research At its core, eugenics was an effort to apply Mendel's laws of inheritance to human traits. Since DNA has not yet been discovered, knowledge of heredity was limited to the perceivable physical manifestations of various traits. People of lower socioeconomic status as well as the mental and physically disabled were sterilized in the U.S. so that their “bad” genes could not further “infect the gene pool.” One such
Transcript: More than two alleles for a trait (an individual still only inherits two) Ex: Blood Type (IA,IB, i) Type A = IAIA or IAi Type B = IBIB or IBi Type AB= IAIB Type O = ii Sex Chromosomes Female = XX Male = XY Sex linked traits are carried on the X chromosome Ex: Hemophilia, red-green colorblindness Heterochromia Iridum A permanent change in the DNA sequence Genotype and phenotype genotype is the actual allele and individual has for a trait phenotype is the actual characteristic displayed by the individual. Heterochromia Iridum is a condition which occurs in humans, dogs, and cats. It causes one eye's iris to be a color such as brown or blue while the other eye's iris is another color like green or hazel. Cancer A pedigree is a representation of genetic inheritence. KARYOTYPES :Analyzing of chromosomes for abnormalities usually involves blocking cells in mitosis and staining the condensed chromosomes with Giemsa dye. dye stains regions of chromosomes that are rich in the base pairs Adenine and Thymine producing a dark band. The bands don’t represent single genes, but in fact the thinnest bands contain over a million base pairs and potentially hundreds of genes For example, the size of one small band is about equal to the entire genetic information for one bacterium. Error in cell cycle which causes uncontrolled cell growth Has environment and genetic variables Recessive Allele Represented by a lower case letter Hidden unless paired with another recessive allele WHAT IS A MUTATION? A mutation does not resolve in having different appearance and it does not deal with having physical features. How is this important to mutations? KEy Examples that can cause mutations: Radiation (x-rays, UV, and nuclear) Chemicals Extremely high temperatures MUTATION G E N E T I C S Multiple allels Homozygous and heterozygerous sex linked traits Genetics-The study of heredity and the variation of inherited characteristics. Dominant Alleles represented by a capital letter Expressed if present Cell division Produces four different haploid daughter cells (gametes) Occurs in sex cells to form gametes Each gamete has a diverse mixture of that parent’s genes Mutagen- an agent that can cause a mutation. Homozygous Both alleles are the same Ex. BB or bb Heterozygous Both alleles are different Ex. Bb Pedigree Meiosis
Transcript: huddle Mrs. Rossi huddle to crowd together crowd huddle separate
Transcript: Affects 1 out of 50,000 people in the US. Affects both Female and Males It does not depend where you are to get this disease. "Friedreich's Ataxia Fact Sheet." Friedreich's Ataxia Fact Sheet. N.p., n.d. Web. 17 Mar. 2016. <http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm>. Symptoms Connection to me? Unfortuantly I have a family member with this disease. But at the same time I have been blessed. Whither its swimming in the pool over the summer or simply seeing her at Sunday dinner. I am so lucky to have a cousin so inspirational, and amazing to look up to. She is the smartest person I know. She is currently studying at WCU. Hayley Morris is an inspiration to so many people too. I could not find out where my disease is located. "I think yes. I played sports when I was younger before I was diagnosed and they were my life. I thought my future would include playing sports in college and beyond. Once I was diagnosed with FA and I had to give up sports, it was really hard at first but it helped me find other things that I enjoyed doing like traveling, reading and spending time with family and friends and it gave me a lot more time to focus on school. Instead of all my competitiveness being focused on sports, I became really competitive in school and found a love for learning new things!" Hayley Morris, Age 20, and is fighting FA. A rare and serious genetic disease. You are born with it, but doesn't come until later on in life. It impossible to know you have it, until symptoms appear. Over time it will take away your ability to walk, ability to move your arms and legs correctly and make it harder to talk and see. The disease causes damage to your spine, spinal cord your nervous system, and sometimes your heart all at the same time. As of right now there is no cure for the disease. Affects 1 out of 50,000 people in the US. People are diagnosed between 5-15 years old. The average life span of these patients is 37, based off an study in 1981. Recessive trait In order to get the disease both the parents must carry the trait. Benefits? What is this? Global? Work Sited "Friedreich's Ataxia Has No Cure, but Researchers Are Working on Answers." N.p., n.d. Web. <http://www.pennlive.com/bodyandmind/index.ssf/2010/08/friedreichs_ataxia_has_no_cure.html>. Friedreich's Ataxia "FA" "What Is FA?" FARA. N.p., n.d. Web. <http://curefa.org/whatis#>. By Callie Swanger "Friedreich's Ataxia Fact Sheet." Friedreich's Ataxia Fact Sheet. N.p., n.d. Web. 17 Mar. 2016. <http://www.ninds.nih.gov/disorders/friedreichs_ataxia/detail_friedreichs_ataxia.htm>. "Friedreich’s Ataxia." Friedreich’s Ataxia. N.p., n.d. Web. 17 Mar. 2016. <http://www.cureuspdx.org/friedreichs-ataxia/>. Speech becomes more difficult. Lost eye sight and, or color blindness. Lost feeling in lower legs. Foot problems Hearing loss. (Only 10% of patients) Fast eye movement Loss of balance and coordination. Weak muscles
Transcript: Cognition: - 25% of all cases - the embrio inherits both copies of chromosome 15 from the mother. - How does this happen? - This is more likely to happen in older women than younger women. - This can cause additional genetic problems or conditions - Sex hormone levels are typically low A disorder of Chromosome 15 Speech: Mode of Inheritance - delayed speech Appetite Disorder: Detecton - Their findings showed that heart rate variability, an indicator of ANS function, was not normal in people with PWS - in a healthy person, the time between one hearbeat and the next varies considerably during a meal because the ANS is actively regulating the body's response to food and body flow. - in people with PWS, hearbeates were far too regular after a meal. Other Common Concerns - have a high risk of cardiovascular disease - An Australian study reveals that people with PWS may have an impaired autonomic nervous system. This discovery opens up a new way of looking at their appetite issues. - autonomic nervous system: controls our inner organs, including our gut, heart, liver, and blood vessels. it responds moment-by-moment to the body's needs. Clinical Description of the Disorder - Motor milestones are typicallt delayed one to two years -Physical and occupational therapies help promote skill development and proper function Behavior Issues: Other interesting info. Weight and Behavior - IQs range from low to average - those with normal IQs typically have learning disabilities - Problem areas: attention, short term auditory memory, and abstract thinking Treatment - Compulsive eating and obsession with food usually begin before age 6. - The urge to eat is phsycological and overwhelming; it is difficult to control and requires constant watch. INTRODUCTION - the embrio has three copies of chromosome 15 - two from the mother (trisomy 15) - later the father's chromosome 15 is lost - has the same result as deletion --> the baby does not have the Prader-willi gene - although there are two copies of the mothers chromosome 15, the key genes in the PWS region are turned off - Currently, there is no cure for PWS. - Treatment is based on curing specific symptoms of the disorder as they arise. - Human growth hormone (HGH): Increases hight, deacreases body fat, increases muscle mass, improves weight distribution, increases stamina, and increases bone mineral density. it can also help behavioral problems - the inibility to control food intake is the biggest opstical that still has no cure; however, they can use anti-obesity drugs. - sleep problems can be helped with modafinil. Motor Skills: - Infants and young children with PWS are typically happy and loving, and exhibit few behavior problems. - Most older children and adults with PWS have difficulties with behavior regulation, manifested as difficulties with transitions and unanticipated changes. - The changes in behavior usually coincide with the uncontrollable need to eat Sexual Development: Scoliosis: can occur early; may be difficult to detect without X-ray. Diabetes mellitus, type II: Secondary to obesity; responds well to weight loss; screen obese patients regularly. Sleep disturbances: hypoventilation and desturation during sleep are common, as is daytime sleepiness Skin picking: a common, sometimes severe habit Dental problems: may include soft tooth enamal, thick sticky saliva, poor oral hygiene, and teeth grinding. GENETICS - less than 5% of cases - casued by an imprinting defect inhereited from the fathers chromosome 15 (region q11-q13). - This defect will not allow the normal expression of genes that are active on the chromosome 15 from the father and needed for normal development. - To identify imprinting defects on chromosome 15 requires specialized laboratory techniques available in ony a few genetic labs conducting research on PWS. Developmental Concerns Prader-Willi Syndrome (PWS) Birth - 2 years of age: - Hypotonia 2 years - 6 years: - Hypotonia - Developmental delay 6 years - 12 years: - continous developmental delay - Excessve eating with central obesity if uncontrolled 13 years - adulthood: - Cognitive disabilities; usually mild mental retardation - Excessive eating - behavior problems: temper tantrums, perseverative and compulsive-like behaviors Paternal Deletion ** Every case of PWS is due to the baby failing to recieve active genes from a specific section of the fathers chromosome 15 --> there are three different ways this can happen... - 70% of all cases - genes from chromosome 15 from the father is missing --> deletion. - common deletions are now classified as Type 1 or Type 2 depending on the size of the deletion. Maternal Uniparental Disomy (UPD) - 1:8,000; 1:25,000; most likely 1:15,000 - occurs in males and females equally - occurs eaqually in all races Autonomic Nervous System Sources: -http://www.pwsausa.org/syndrome/index.htm -http://www.disabled-world.com/disability/types/prader-willi-syndrome.php
Transcript: AND GENETICS COUNSELING All of these experiences and more are offered through an exciting career in genetics! SALARY RANGES The position of Genetic Counselor is a full time job, which will entail at least 40 hours a week. The Genetic Counselor will be administrate services to assess any risks and testing for certain birth defects or genetic disorders. The Counselor will also coordinate efforts to facilitate and promote outcomes in the best interest of the patients. The Genetic Counselor will operate mostly in a clinical setting, such as a medical office building or outpatient areas of hospitals. They will also work in association with academic and commercial laboratories. The job may also entail travel to outside clinics. JOB DESCRIPTION BEST UNIVERSITIES BIBLIOGRAPHY To be a Genetic Counselor, there are plentiful opportunities to work in areas such as private practices, universities, pharmaceutical companies and health care consulting firms. POSSIBLE EMPLOYERS: - Bio-Reference Laboratories: Although mainly located in the New York Metro Area, (near Sarah Lawrence College) Bio-Reference Laboratories is a leader in the genetics industry and a stable and fast growing company which promises to help you achieve personal growth, and a chance to be a part of an award winning team. - St. John Providence: This highly acclaimed medical facility is mainly focused around the treatment of cancer, meaning that you would need experience studying cancerous genes. You would contribute to the continued development of the Cancer Genetics Program and actively participate in clinical care. - Sheridan Healthcare, Inc.: If you are looking for a stable, fast-paced, growing company in the industry that is committed to innovation, excellence and integrity, then this may be the next step in the advancement of your career. This company has seen steady growth over the past 60 years and offers the chance to asses risks and testing for certain birth defects or genetic disorders. ADDITIONAL INFORMATION - College Apps.about.com, May 25, 2013, http://collegeapps.about.com/od/GPA-SAT-ACT-Graphs/ss/johns-hopkins-university-st-louis-admission-gpa-sat-act.htm - National Society of Genetic Counselors.org, May 25, 2013, http://www.nsgc.org/Portals/0/PSS/PSS%202012%20Executive%20Summary%20FINAL.pdf - University of Kansas Medical Center.edu, May 25, 2013, http://www.kumc.edu/gec/prof/gcprogs.html - Johns Hopkins School of Public Health.edu, May 25, 2013, http://www.jhsph.edu/departments/health-behavior-and-society/degree-programs/scm-in-genetic-counseling/ - Center for Genetic Medicine.Northwestern.edu, May 25, 2013, http://www.cgm.northwestern.edu/cgm/Academics/Graduate-Program-in-Genetic-Counseling - Sarah Lawrence College.edu, May 25, 2013, http://www.slc.edu/graduate/programs/human-genetics/character/index.html - Career Builder.com, May 26, 2013, http://www.careerbuilder.com/JobSeeker/Jobs/JobDetails.aspx?APath=220.127.116.11.0&job_did=J3J6NS722PKX28MJS5G&showNewJDP=yes&IPath=QHKV0A, http://www.careerbuilder.com/JobSeeker/Jobs/JobDetails.aspx?APath=18.104.22.168.0&job_did=J3G0676TVDPTZ9QX8JP&showNewJDP=yes&IPath=QHKV0D, http://www.careerbuilder.com/JobSeeker/Jobs/JobDetails.aspx?APath=22.214.171.124.0&job_did=J3G05T5YDFLF8Q6D0FG&IPath=ILKV0A - Psychology.about.com, May 27, 2013, http://psychology.about.com/od/psychologycareerprofiles/a/genetics-counselor.htm - Salary.com, May 28, 2013, http://www1.salary.com/Genetics-Counselor-Salary.html - Science Education.nih.gov, May 28, 2013, http://science.education.nih.gov/lifeworks.nsf/alphabetical+list/Counselor,+Genetic?OpenDocument&ShowTab=All& CAREERS IN GENETICS Sarah McClure Busby - 3rd May 29, 2013 The job is not physically demanding but can sometimes be emotionally demanding given the nature of some cases. They will often be meeting face-to-face with their patients. The career will often entail travel to outside clinics for consultations. This job is usually only performed by one counselor, which provides more independence in your field of work. This can also mean more responsibility and being able to make decisions quickly. Genetic counselors must also work in laboratories to acquire the most appropriate testing plan for a patient. This can mean spending long hours working over a machine. - Northwestern University: houses the Northwestern Memorial Hospital, which is ranked in the top 15 for major teaching hospitals, established graduate program in genetic counseling - Sarah Lawrence College: established first program in human genetics in the U.S., has affiliations with 50 genetics centers in the New York metropolis, which has the greatest amount of these centers in the world - Johns Hopkins University: houses the McKusick-Nathans Institute of Genetic Medicine and the JHU/NHGRI Genetic Counseling Training Program POSSIBLE JOB OPPORTUNITIES - Help treat diseases? - Study all living things? - Lecture at Universities? - Learn about DNA? - Be able to predict genetic abnormalities? - Interperet inherited traits?
Transcript: Mutation and Variation Genotype and Phenotype Your genotype is your genes for a given trait. Phenotype is basically what you actually turn out to be. Genotype determine phenotype. This can be showed by creating a punnet square or a pedigree. DNA AND GENETICS BASICS OF DNA In a human genome, there's 50'000 to 100'000 genes. DNA is copied over and over again. Sometimes during DNA sequencing mistakes occur and these mistakes are called mutations. Gene mutations occur in a single gene while chromosomal mutations cause changes in a whole chromosome. Mutations can be both harmful and helpful. Down syndrome is a harmful example due to a person being born with an extra chromosome. A mutation that causes sickle cell anemia is helpful. NOW ON TO GENETICS DNA Replication Not all genes follow the whole dominant and recessive rule. Gene for blood type is codominant because if one parent has an A blood type and other has a B blood type then their child will come out with AB blood type. Polygenic traits are controlled by several genes that are contributed. Skin is an example of a polygenic trait. Gregor Mendel's work is an example of cross breeding. Cross breeding in animals create hyprid animals. DNA is a molecule that contains genetic instructions uses for living organisms and many viruses The info in DNA guides cells to make new proteins that determine all of our traits that get passed from generations to generations. DNA is made of four different parts Genes are sections of DNA that are carried on the chromosomes and determine characteristics. Every person has about 25,000 different genes and that's why we have such genetic variation in the world. Heredity is the passing of genes from one generation to another. Genes are either dominant or recessive. Most of the time dominant genes overpower recessive but that can be determine with something called a punnet square. Before a cell can reproduce it must replicate it's DNA. This all depends on if the cell is a prokaryote or a eukaryote. Different types of cells replicate their DNA at different rates. Some cells constantly divide, while others go through rounds of cells division before stopping. Basics of Genes Adenine (A): Purine Cytosine (C): Pyrimidine Guanine (G): Purine Thymine (T): Pyrimidine codominant polygenic and cross breeding FOUR BASES OF DNA
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