Tay Sachs, Cystic Fibrosis, Sickle Cell Anemia and PKU. Tay Sachs Disease (also called Hexosaminidase deficiency)
|
|
- Garry Maxwell
- 6 years ago
- Views:
Transcription
1 Tay Sachs, Cystic Fibrosis, Sickle Cell Anemia and PKU Tay Sachs Disease (also called Hexosaminidase deficiency) Introduction 1. Tay Sachs is a rare condition named after 2 physicians, Tay and Sachs, who first described the disease in Tay Sachs is caused by a deficiency of an enzyme called hexosaminidase A (HEXA) HEXA gene 1. HEXA is encoded by the HEXA gene on chromosome 15 at locus 24.1 (15q24.1) 2. The HEXA gene stretches from base pairs 72,343,436 to 72,376, The gene is 32,742 bp in length. 4. There are about 102 million base pairs on chromosome 15 5 chromosome 15 contains 1,428 genes (out of the 20,000 genes in the human genome) What does hexosaminidase (HEXA) do in cells? 1. hexosaminidase is a hydrolytic enzyme found in lysosomes 2. it breaks down glycolipids called gangliosides that are found in neurons a. there are 3 types of gangliosides: GM1, GM2, and GM3 b. gangliosides account for around 6% of the lipid content of plasma membranes of neurons; they are similar in structure to phospholipids 1
2 GM ganglioside Cause of Tay Sachs Disease 1. Tay Sachs is caused by a deficiency of the active form of hexosaminidase 2. if the enzyme doesn t function properly (due to mutated forms of the HEXA gene), then gangliosides buildup in neurons within the brain and spinal cord to toxic levels 3. the buildup of gangliosides (lipids) in neurons causes them to degenerate and die over time complications occur as brain neurons die 4. people with Tay Sachs disease have 100 to 1000 times more GM2 gangliosides inside brain neurons than a normal person 5. The death of neurons over a several year period as GM2 gangliosides build up causes the symptoms of Tay Sachs disease 4. Mutations in the HEXA gene on chromosome 15 cause the enzyme deficiency a. there are more than 120 mutations of the HEXA gene that cause Tay Sachs disease b. some mutations cripple the enzyme but it still partially functions giving rise to less severe forms of Tay Sachs c. other mutations lead to completely non-functional enzymes that lead to the severe forms of the disease that begin in infancy and lead to death by the age of 6. Tay Sachs is an Autosomal Recessive Condition 1. HexA gene a. A dominant HEXA allele codes for normal enzyme b. a recessive HEXA allele codes for nonfunctional enzyme. 1. This allele arose as a mutant allele. 2. It is recessive since it doesn t affect the phenotype in the heterozygote (Aa) 2. Since kids with Tay Sachs die young, they can t be parents. 3. Parents that have kids with Tay Sachs are Autosomal recessive carriers = Aa a. carrier parents show no symptoms b. Aa x Aa cross produces 3:1 phenotypic ratio where 1 in 4 kids have Tay Sachs disease c. Tay Sachs occurs when a person inherits two recessive alleles of the mutated gene (aa) from heterozygote carries who are normal (Aa) 2
3 Punnett Square: Aa x Aa offspring have 25% chance of inheriting the condition N alleles in unfertilized egg A a N alleles in sperm A AA Aa a Aa aa Zygote (aa) --> newborn with Tay Sachs 25% of kids born with Tay Sachs 75% of kids are normal, but 50% of kids are carriers Symptoms observed in babies with severe form of Tay Sachs 1. babies appear normal at birth, but deteriorate rapidly by 6 months and the baby is dead between the ages of 2 to 6 years 2. brain seizures: typically last 1-2 min, abnormal firing of brain neurons, muscle twitching, fall over or down, experience sensations (sounds, sights, tastes), loss of skeletal muscle control (weak muscles to paralysis) 3. vision and hearing loss (kids go blind and can t hear) 4. severe mental retardation 5. muscle paralysis kids cannot turn over, sit, or crawl 6. lose the ability to swallow and can t eat without feeding tubes 7. kids eventually die of suffocation since diaphragm stops working so can t inhale 8. less severe forms of Tay Sachs (late onset) allow one to live into adulthood but suffer from muscle weakness, loss of muscle coordination (ataxia), speech problems, and mental illness 3
4 1278+TATC Mutation of the HEXA gene TATC is a Frameshift Mutation that leads to a Nonsense Point Mutation a. Frameshift mutation insertions or deletions that shift the reading frame for RNA polymerase. 1. the earlier in the sequence the insertion or deletion occurs, the more altered the protein 2. frameshift mutations typically alter the location of the first stop codon (UAA, UGA, UAG) resulting in an abnormally short polypeptide b. nonsense mutation is a change in nucleotide sequence of a gene that results in an early STOP codon. c. This results in the premature termination of transcription and a polypeptide that is shortened (truncated) TATC is the most common mutation of the HEXA gene that causes the severe form of the disease (accounts for 80% of cases) 3. this is a 4 base pair insertion (+TATC) that comes after bp 1278 in exon 11 of the HEXA gene on chromosome the TATC insertion alters the reading frame of the HEXA gene 5. this mutation leads to an early STOP codon (frameshift mutation that is known as a nonsense mutation since it results in a stop codon) 6. as a result of the STOP codon, the enzyme is only 429 aa s in length rather than the normal 529 aa s and non-functonal Treatment 1. there is no cure Tay Sachs disease 2. even with the best care the kids are dead by age 4 to 6 3. it is not possible to reverse or delay the progression of the disease Prevention 1. Blood tests can determine whether parents are carriers of the recessive allele (Aa) that causes Tay Sachs. Parents may decide not to have children 2. Prenatal Testing (CVS at wks, amniocentesis at wks) a. if both parents are carriers, then prenatal testing can determine whether the unborn child has inherited both recessive alleles (thus will be born with Tay Sachs). b. Couples may choose to abort 3. Preimplantation Genetic Diagnosis a. treat mother with drugs so that she superovulates a lot of eggs, then harvest 6 to 8 or more of the ovulated eggs from the oviduct and fertilize them with dad s sperm by in vitro techniques b. analyze some cells from the embryo before implantation for the presence of homozygous recessive alleles c. discard embryos with Tay Sachs alleles d. preimplantation diagnoses can be done for cystic fibrosis and sickle cell anemia and other genetic disorders 4
5 Cystic Fibrosis (CF) 1. autosomal recessive disorder that is lethal 2. What causes Cystic fibrosis (CF) a. CF is caused by mutations in the CFTR gene that lead to defective CFTR proteins in the plasma membranes of epithelial cells b. CFTR stands for cystic fibrosis transmembrane conductance regulator c the CFTR gene that is responsible for cystic fibrosis is on chromosome 7 1. the gene is on the long arm of chromosome 7 at position q the gene runs from base pair 116,907,253 to 117,095,955. It is 188,702 bp in length. 3. the gene has 27 exons and 26 introns c. the normal CFTR protein is 1,480 aa s in length CFTR gene on chromosome 7 at position 31.2 The CFTR protein is a channel protein that controls the flow of H2O and Cl- ions in and out of cells inside the lungs. When the CFTR protein is working correctly, as shown in Panel 1, ions freely flow in and out of the cells. However, when the CFTR protein is malfunctioning as in Panel 2, these ions cannot flow out of the cell due to a blocked channel. This causes cystic fibrosis, characterized by the buildup of thick mucus in the lungs. 3. What does CFTR protein do in the epithelial cells that line the bronchi of the lungs? a. CFTR protein is a membrane ion channel that regulates the flow of Na+, Cl- and water out of epithelial cells b. the channel first moves the negatively charged chloride ions out of epithelial cells into the lumen of the bronchi. 5
6 1. This is an active process that requires ATP hydrolysis to control the opening and closing of a gate associated with the channel (the gate regulates conductance or movement of ions through the channel). 2. The gate must be open in order for Cl- to move into or out of the cell. 3. Cl- move through the channel when the gate is open by diffusion which almost always favors movement out of the cell 4. CFTR is a membrane channel that acts as a Cl- transport pump c. Na+ then follow the Cl- by electrostatic attraction through the ENaC channel. 1. CFTR is necessary for the proper functioning of the ENaC channel. 2. ENaC epithelial sodium ion channel 3. the ENaC channel is a Na+/K+ ATPase channel d. the movement of Na+ and Cl- to the outside of the cell creates an osmotic gradient that water follows by osmosis 1. the NaCl creates a hypertonic environment outside the cell 2. water osmoses through aquaporins (water channels) in the membrane to the hypertonic NaCl solution outside the cell 4. the water moving out of the epithelial cells by osmosis thins out the mucus that covers the epithelial cells that line lung passageways a. this is normal so that the mucus doesn t get too thick (not hydrated enough) where it would move sluggishly and clog up the airways b. the mucus is part of the mucociliary elevator that cleanses the lungs of debris (bacteria, lint, dust particles). The cilia beat to move mucus and anything stuck to it (e.g., pollen, dust, bacteria) out of the lungs and into the throat where it is swallowed 5. Cystic Fibrosis a. Defective CFTR gene means defective CFTR proteins which means that the Cl- pumps in epithelial cells do not operate properly b. if the chloride transport pump is defective, a thick mucus forms on the outside of the epithelial cells clogging up the airways c. the mucus builds up in passageways of the lungs, pancreas, digestive tract, and other organs 6. Symptoms a. lung infections (bacteria live in the mucus that accumulates in the bonchi) b. difficulty breathing from clogged airways c. a decrease in the production of pancreatic juice that leads to digestive problems and malnutrition (mucus blocks pancreatic ducts that carry pancreatic juice to duodenum of small intestine) 7. if untreated, most kids die by the age of 5. if treated, they may survive to the age of 30 or beyond. 8. the most common point mutation of the CFTR gene a. mutation deletes 3 base pairs within the gene. b. As a result, phenylalanine is not included at the 508th position of the resultant CFTR protein. c. The CFTR protein made by the mutant allele does not fold properly without phe at position 508 doesn t function properly as a Cl- transporter 6
7 d. The normal protein has 1,480 amino acids, whereas the mutant form has only 1,479. 7
8 Sickle-Cell Anemia 1. autosomal recessive disorder that affects one out of every 400 African-Americans. It is estimated that one out of every African-American is a heterozygote for the sickle cell allele; the sickle cell gene is on chromosome Sickle cell disease is caused by a single amino acid substitution in the hemoglobin protein of red blood cells. a. The protein portion of hemoglobin consists of four polypeptides linked together. There are 2 polypeptides called alpha subunits and two that are called beta subunits. b. In sickle cell disease, the amino acid valine is substituted for the normal glutamic acid at position 6 on the 146 amino acid long beta chains (i.e., val replaces glu) 3. When the oxygen level within affected individual s red cells is low (during exercise or at high altitudes) then the sickle-cell hemoglobin molecules clump so as to deform the cell into a sickle shape (as compared to their normal biconcave shape) 4. Sickled cells my stick together and clog up blood vessels. This blockage deprives the cells downstream of oygen and nutrients. This leads to a variety of symptoms to include pain, brain damage, paralysis, and muscle weakness 5. A simple blood test can determine if a person is a carrier of the defective allele. There is a test to detect the presence of the allele in newborns by analyzing the hemoglobin within red cells. 8
9 PKU (Phenylketonuria) 1,. Autosomal recessive condition on chromosome people with the disorder do not make a functional copy of the enzyme phenylalanine hydroxylase. As a result they don t convert the amino acid phenylalanine to tyrosine 3. Phenylalanine is a common amino acid that comes into the body with the proteins that we eat. 4. Phenylalanine accumulates in the bodies of those with the disorder 5. PKU babies look normal at birth, but if untreated they become irreversibly mentally retarded within a year of birth. 6. The most common mutation that causes PKU is the substitution of tryptophan for the normal amino acid arginine at position 408 of the 451 amino acid long enzyme (phenylalanine hydroxylase) 7. Newborns are screened for PKU at birth by a blood test for abnormally high levels of phenylalanine. If they have PKU, they can receive treatment in the form of a special diet for the rest of their life that prevents most of those from becoming mentally retarded. 9
NOTES: : HUMAN HEREDITY
NOTES: 14.1-14.2: HUMAN HEREDITY Human Genes: The human genome is the complete set of genetic information -it determines characteristics such as eye color and how proteins function within cells Recessive
More informationLesson Overview. Human Genetic Disorders. Lesson Overview Human Genetic Disorders
Lesson Overview 14.2 Human Genetic Disorders From Molecule to Phenotype There is a direct connection between molecule and trait, and between genotype and phenotype. In other words, there is a molecular
More informationHuman Genetic Diseases (Ch. 15)
Human Genetic Diseases (Ch. 15) 1 2 2006-2007 3 4 5 6 Genetic counseling Pedigrees can help us understand the past & predict the future Thousands of genetic disorders are inherited as simple recessive
More informationHuman Genetic Diseases. AP Biology
Human Genetic Diseases 1 3 4 2 5 2006-2007 6 Pedigree analysis n Pedigree analysis reveals Mendelian patterns in human inheritance u data mapped on a family tree = male = female = male w/ trait = female
More informationFriday, January 4. Bell Work:
Friday, January 4 Bell Work: Red green colorblindness is an X linked trait and is recessive. A male who is normal marries a woman who is a carrier, what is the phenotypic ratio of their offspring? 1 Genetic
More informationHuman Genetic Disorders. Lesson Overview. Lesson Overview Human Genetic Disorders
Lesson Overview 14.2 Human Genetic Disorders THINK ABOUT IT Have you ever heard the expression It runs in the family? Relatives or friends might have said that about your smile or the shape of your ears,
More informationHuman Genetic Diseases. AP Biology
Human Genetic Diseases 1 2 2006-2007 3 4 5 6 Pedigree analysis Pedigree analysis reveals Mendelian patterns in human inheritance data mapped on a family tree = male = female = male w/ trait = female w/
More informationHuman Genetic Mutations
Human Genetic Mutations 2 Main Types of Mutations 1.) Chromosomal Mutations 2.) Gene Mutations What are chromosomes? Humans have 23 pairs of chromosomes, with one chromosome from each parent. The chromosomes
More informationLesson Overview. Human Genetic Disorders. Lesson Overview Human Genetic Disorders
Lesson Overview 14.2 Human Genetic Disorders THINK ABOUT IT Have you ever heard the expression It runs in the family? Relatives or friends might have said that about your smile or the shape of your ears,
More informationGenetic Disorders. PART ONE: Detecting Genetic Disorders. Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test
Genetic Disorders PART ONE: Detecting Genetic Disorders Amniocentesis Chorionic villus sampling Karyotype Triple Screen Blood Test Amniocentesis A technique for determining genetic abnormalities in a fetus
More informationRespiratory Pharmacology: Treatment of Cystic Fibrosis
Respiratory Pharmacology: Treatment of Cystic Fibrosis Dr. Tillie-Louise Hackett Department of Anesthesiology, Pharmacology and Therapeutics University of British Columbia Associate Head, Centre of Heart
More informationMULTIPLE CHOICE QUESTIONS
SHORT ANSWER QUESTIONS-Please type your awesome answers on a separate sheet of paper. 1. What is an X-linked inheritance pattern? Use a specific example to explain the role of the father and mother in
More informationHuman Genetic Disorders
Human Genetic Disorders HOMOLOGOUS CHROMOSOMES Human somatic cells have 23 pairs of homologous chromosomes 23 are inherited from the mother and 23 from the father HOMOLOGOUS CHROMOSOMES Autosomes o Are
More informationGenetic Disorders. Students must provide an explanation for all problems. Students must have parent signature prior to submission.
Name: Date: Students must provide an explanation for all problems. Students must have parent signature prior to submission. 1. A human hereditary disorder that may result in mental retardation is 1. A.
More informationGene Expression and Mutation
Gene Expression and Mutation GENE EXPRESSION: There are hormonal and environmental factors that may cause the expression of some genetic information. Some examples are: 1. The two- colour pattern of some
More information- Aya Alomoush. - Talal Al-Zabin. - Belal Azab. 1 P a g e
24 - Aya Alomoush - Talal Al-Zabin - Belal Azab 1 P a g e 1) Features of autosomal dominant inheritance: A) Vertical transmission: direct transmission from grandparent to parent to child without skipping
More informationProteins. Length of protein varies from thousands of amino acids to only a few insulin only 51 amino acids
Proteins Protein carbon, hydrogen, oxygen, nitrogen and often sulphur Length of protein varies from thousands of amino acids to only a few insulin only 51 amino acids During protein synthesis, amino acids
More informationFigure 1: Transmission of Wing Shape & Body Color Alleles: F0 Mating. Figure 1.1: Transmission of Wing Shape & Body Color Alleles: Expected F1 Outcome
I. Chromosomal Theory of Inheritance As early cytologists worked out the mechanism of cell division in the late 1800 s, they began to notice similarities in the behavior of BOTH chromosomes & Mendel s
More informationB1 Revision You and Your Genes. You and Your Genes (B1) Revision for Exam
B1 Revision You and Your Genes You and Your Genes (B1) Revision for Exam What makes us all different? Organisms inherit information from their parents. This controls how they develop, so children look
More informationTEST INFORMATION Test: CarrierMap GEN (Genotyping) Panel: CarrierMap Expanded Diseases Tested: 311 Genes Tested: 299 Mutations Tested: 2647
Ordering Practice Jane Smith John Smith Practice Code: 675 Miller MD 374 Broadway New York, NY 10000 Physician: Dr. Frank Miller Report Generated: 2016-02-03 DOB: 1973-02-19 Gender: Female Ethnicity: European
More informationHuman Genetic Diseases (non mutation)
mutation) Pedigrees mutation) 1. Autosomal recessive inheritance: this is the inheritance of a disease through a recessive allele. In order for the person to have the condition they would have to be homozygous
More informationWhat is the inheritance pattern (e.g., autosomal, sex-linked, dominant, recessive, etc.)?
Module I: Introduction to the disease Give a brief introduction to the disease, considering the following: the symptoms that define the syndrome, the range of phenotypes exhibited by individuals with the
More informationThe Meaning of Genetic Variation
Activity 2 The Meaning of Genetic Variation Focus: Students investigate variation in the beta globin gene by identifying base changes that do and do not alter function, and by using several CD-ROM-based
More informationSection Objectives: Pedigrees illustrate inheritance. Pedigrees illustrate inheritance
What You ll Learn You will compare the inheritance of recessive and dominant traits in humans. You will analyze the inheritance patterns of traits with incomplete dominance and codominance. You will determine
More informationPATIENT EDUCATION. Cystic Fibrosis Carrier Testing
PATIENT EDUCATION Cystic Fibrosis Carrier Testing Introduction Cystic fibrosis carrier testing before or during pregnancy can help determine your risk of having a child with cystic fibrosis. This information
More informationGenes are found on Chromosomes! Genes are found on Chromosomes! I. Types of Mutations
Genes are found on Chromosomes! genes and chromosomes are made up of DNA, which is the genetic material for all life on earth genes are found on a specific region on a chromosome; called a locus (loci)
More informationBIO113 Exam 2 Ch 4, 10, 13
BIO113 Exam 2 Ch 4, 10, 13 See course outline for specific reading assignments Study notes and focus on terms and concepts The images in the textbook are useful CELLS (pg. 37) The basic unit of life living
More informationThe basic methods for studying human genetics are OBSERVATIONAL, not EXPERIMENTAL.
Human Heredity Chapter 5 Human Genetics 5:1 Studying Human Genetics Humans are not good subjects for genetic research because: 1. Humans cannot ethically be crossed in desired combinations. 2. Time between
More informationCh 7 Extending Mendelian Genetics
Ch 7 Extending Mendelian Genetics Studying Human Genetics A pedigree is a chart for tracing genes in a family. Used to determine the chances of offspring having a certain genetic disorder. Karyotype=picture
More informationB1 Question 1 Foundation
B1 Question 1 Foundation The nucleus controls the activities of a cell. The instructions for how an organism develops i.e. the genes are found in the nuclei of its cells B1 Question 2 Foundation The genes
More informationCystic Fibrosis. Na+ 2Cl - K+ Na+ Na+
1 Cystic Fibrosis I. Overview of cystic fibrosis Among Caucasians, about one out of twenty people carry the gene for cystic fibrosis (CF), and one of 2,000 to 4,000 people is afflicted with the recessive
More informationGenetic Disorders. and. blood vessels the and. How many genes are affected by this deletion? Turner s Syndrome- An incomplete or missing chromosome
Genetic Disorders A genetic disorder is an abnormality in the. They can range for a deletion of a gene to the deletion of an entire chromosome. List the types of genetic disorders. Williams Syndrome- A
More informationPatterns of Inheritance
Patterns of Inheritance Some diseases are caused by changes in genes (mutations). Remember, there are always two copies of each gene in a person, but changes in the genes can cause some genetic diseases.
More informationGuided Notes: Simple Genetics
Punnett Squares Guided Notes: Simple Genetics In order to determine the a person might inherit, we use a simple diagram called a o Give us of an offspring having particular traits Pieces of the Punnett
More informationB.6.E identify and illustrate changes in DNA and evaluate the significance of these changes
B.6.E identify and illustrate changes in DNA and evaluate the significance of these changes One look around a room tells you that each person has slight differences in their physical make up and therefore
More informationCystic Fibrosis Carrier Testing
PATIENT EDUCATION Cystic Fibrosis Carrier Testing Introduction Cystic fibrosis carrier testing before or during pregnancy can help determine your risk of having a child with cystic fibrosis. This information
More informationPULMONARY SURFACTANT, ALPHA 1 ANTITRYPSIN INHIBITOR DEFICIENCY, AND CYSTIC FIBROSIS DR. NABIL BASHIR BIOCHEMISTRY/RESPIRATORY SYSTEM
PULMONARY SURFACTANT, ALPHA 1 ANTITRYPSIN INHIBITOR DEFICIENCY, AND CYSTIC FIBROSIS DR. NABIL BASHIR BIOCHEMISTRY/RESPIRATORY SYSTEM Pulmonary surfactant Pulmonary surfactant is (phospholipoprotein) complex
More informationUnit 5: Genetics Guided Notes
1 Unit 5: Genetics Guided Notes Basic Mendelian Genetics Before Gregor Mendel 1) When Mendel started his work, most people believed in the blending theory of inheritance. (Inheritance, Heredity, and Genetics
More informationTRANSLATION: 3 Stages to translation, can you guess what they are?
TRANSLATION: Translation: is the process by which a ribosome interprets a genetic message on mrna to place amino acids in a specific sequence in order to synthesize polypeptide. 3 Stages to translation,
More informationEach person has a unique set of characteristics, such as eye colour, height and blood group.
1 of 51 2 of 51 What is inheritance? 3 of 51 Each person has a unique set of characteristics, such as eye colour, height and blood group. A person s characteristics are determined by a combination of the
More informationMendel. The pea plant was ideal to work with and Mendel s results were so accurate because: 1) Many. Purple versus flowers, yellow versus seeds, etc.
Mendel A. Mendel: Before Mendel, people believed in the hypothesis. This is analogous to how blue and yellow paints blend to make. Mendel introduced the hypothesis. This deals with discrete units called
More informationLab Activity 36. Principles of Heredity. Portland Community College BI 233
Lab Activity 36 Principles of Heredity Portland Community College BI 233 Terminology of Chromosomes Homologous chromosomes: A pair, of which you get one from mom, and one from dad. Example: the pair of
More informationHuman inherited diseases
Human inherited diseases A genetic disorder that is caused by abnormality in an individual's DNA. Abnormalities can range from small mutation in a single gene to the addition or subtraction of a whole
More informationWhat You ll Learn. Genetics Since Mendel. ! Explain how traits are inherited by incomplete dominance
Genetics Since Mendel GLE 0707.4.4 Predict the probable appearance of offspring based on the genetic characteristics of the parents. What You ll Learn! Explain how traits are inherited by incomplete dominance!
More informationGenetic Diseases. SCPA202: Basic Pathology
Genetic Diseases SCPA202: Basic Pathology Amornrat N. Jensen, Ph.D. Department of Pathobiology School of Science, Mahidol University amornrat.nar@mahidol.ac.th Genetic disease An illness caused by abnormalities
More informationMutations. Any change in DNA sequence is called a mutation.
Mutations Mutations Any change in DNA sequence is called a mutation. Mutations can be caused by errors in replication, transcription, cell division, or by external agents. Mutations Mutations can be harmful.
More information40 Bell Work Week 8 5/12 41 Genetic Notes 5/12 42 Bill Nye Video & Questions 5/12
40 Bell Work Week 8 5/12 41 Genetic Notes 5/12 42 Bill Nye Video & Questions 5/12 1. I am available after school on Wed. and Thurs. this week. 2. Quiz Friday over genetic material 3. Last day to turn in
More informationCystic Fibrosis. Presented by: Chris Belanger & Dylan Medd
Cystic Fibrosis Presented by: Chris Belanger & Dylan Medd Outline What is Cystic Fibrosis? Signs, Symptoms & Diagnosis Who does it effect? General effects on daily life Managing Cystic Fibrosis Exercise
More informationGenetic screening. Martin Delatycki
7 Genetic screening Martin Delatycki Case study 1 Vanessa and John are planning a family. They see their general practitioner and ask whether they should have any tests prior to falling pregnant to maximise
More informationUnit 3: DNA and Genetics Module 9: Human Genetics
Unit 3: DNA and Genetics Module 9: Human Genetics NC Essential Standard: 3.2 Understand how the environment, and /or the interaction of alleles, influences the expression of genetic traits. 3.3.3 Evaluate
More informationChapter 28 Modern Mendelian Genetics
Chapter 28 Modern Mendelian Genetics (I) Gene-Chromosome Theory Genes exist in a linear fashion on chromosomes Two genes associated with a specific characteristic are known as alleles and are located on
More informationUnit 3: DNA and Genetics Module 9: Human Genetics
Unit 3: DNA and Genetics Module 9: Human Genetics NC Essential Standard: 3.2.3 Explain how the environment can influence expression of genetic traits 3.3.3 Evaluate ethical issues surrounding the use of
More informationPATIENT EDUCATION. carrier screening INFORMATION
PATIENT EDUCATION carrier screening INFORMATION carrier screening AT A GLANCE Why is carrier screening recommended? Carrier screening is one of many tests that can help provide information to you and your
More informationFACTS ABOUT. Cystic Fibrosis. What Is Cystic Fibrosis. What Are the Signs and Symptoms of CF?
FACTS ABOUT Cystic Fibrosis What Is Cystic Fibrosis Cystic fibrosis (CF) is a chronic, progressive, and frequently fatal genetic (inherited) disease of the body s mucus glands. CF primarily affects the
More informationLesson Overview. Human Chromosomes. Lesson Overview. Human Chromosomes
Lesson Overview Karyotypes A genome is the full set of genetic information that an organism carries in its DNA. A study of any genome starts with chromosomes, the bundles of DNA and protein found in the
More informationGenes and Inheritance (11-12)
Genes and Inheritance (11-12) You are a unique combination of your two parents We all have two copies of each gene (one maternal and one paternal) Gametes produced via meiosis contain only one copy of
More informationCystic Fibrosis. Parkland College. Monica Rahman Parkland College. Recommended Citation
Parkland College A with Honors Projects Honors Program 2013 Cystic Fibrosis Monica Rahman Parkland College Recommended Citation Rahman, Monica, "Cystic Fibrosis" (2013). A with Honors Projects. 98. http://spark.parkland.edu/ah/98
More informationCystic Fibrosis. Information for Caregivers
Cystic Fibrosis Information for Caregivers Arkansas Children s Hospital is an accredited Cystic Fibrosis Care Center by the National Cystic Fibrosis Foundation Cystic Fibrosis: Information for Caregivers
More informationThe passing of traits from parents to offspring. The scientific study of the inheritance
Inheritance The passing of traits from parents to offspring Genetics The scientific study of the inheritance Gregor Mendel -Father of modern genetics -Used peas to successfully identify the laws of heredity
More informationNormal enzyme makes melanin (dark pigment in skin and hair) Defective enzyme does not make melanin
Genetics Supplement (These supplementary modules, a Genetics Student Handout, and Teacher Preparation Notes with suggestions for implementation are available at http://serendip.brynmawr.edu/sci_edu/waldron/#genetics.
More informationBasic Definitions. Dr. Mohammed Hussein Assi MBChB MSc DCH (UK) MRCPCH
Basic Definitions Chromosomes There are two types of chromosomes: autosomes (1-22) and sex chromosomes (X & Y). Humans are composed of two groups of cells: Gametes. Ova and sperm cells, which are haploid,
More informationGenetic Counseling PSI AP Biology
Genetic Counseling PSI AP Biology Name: Objective Students will learn about the field of genetic counseling and will analyze genetic counseling scenarios involving Huntington s disease and Cystic fibrosis.
More informationPrinciples of Genetics Biology 204 Marilyn M. Shannon, M.A.
Principles of Genetics Biology 204 Marilyn M. Shannon, M.A. Introduction Nature versus nurture is a topic often informally discussed. Are world-class musicians that good because they inherited the right
More informationExam 2 Practice Problems
Exam 2 Practice Problems Cell Structure and Function Practice Questions 1. One of the relationships that exists between ribosomes and lysosomes is that a. ribosomes produce enzymes that could be stored
More informationJULY 21, Genetics 101: SCN1A. Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology
JULY 21, 2018 Genetics 101: SCN1A Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology Disclosures: I have no financial interests or relationships to disclose. Objectives 1. Review genetic
More informationGenetics 1 by Drs. Scott Poethig, Ingrid Waldron, and. Jennifer Doherty, Department of Biology, University of Pennsylvania, Copyright, 2011
Genetics 1 by Drs. Scott Poethig, Ingrid Waldron, and. Jennifer Doherty, Department of Biology, University of Pennsylvania, Copyright, 2011 We all know that children tend to resemble their parents in appearance.
More informationChapter 11 Gene Expression
Chapter 11 Gene Expression 11-1 Control of Gene Expression Gene Expression- the activation of a gene to form a protein -a gene is on or expressed when it is transcribed. -cells do not always need to produce
More informationGenetic Disorders. n A genetic disorder is an abnormality
+ GENETIC DISORDERS + Genetic Disorders n A genetic disorder is an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an
More informationLab Activity Report: Mendelian Genetics - Genetic Disorders
Name Date Period Lab Activity Report: Mendelian Genetics - Genetic Disorders Background: Sometimes genetic disorders are caused by mutations to normal genes. When the mutation has been in the population
More informationCase Study What is the Relationship Between the Cell Membrane and Cystic Fibrosis?
Names: Date: Case Study What is the Relationship Between the Cell Membrane and Cystic Fibrosis? Dr. Weyland examined a six month old infant that had been admitted to University Hospital earlier in the
More informationQuestions Q1. ) in the box next to your answer. (1) A FF B Ff C ff. D ff (ii) Explain why a person with cystic fibrosis (CF) may lose body mass.
Questions Q1. Cystic fibrosis (CF) is a recessive genetic disorder. The recessive allele is shown as f and the dominant allele as F. (a) (i) What is the genotype of a person with cystic fibrosis? Put a
More informationPatterns of Heredity - Genetics - Sections: 10.2, 11.1, 11.2, & 11.3
Patterns of Heredity - Genetics - Sections: 10.2, 11.1, 11.2, & 11.3 Genetics = the study of heredity by which traits are passed from parents to offspring Page. 227 Heredity = The passing of genes/traits
More informationHuman Genetics Notes:
Human Genetics Notes: Human Chromosomes Cell biologists analyze chromosomes by looking at. Cells are during mitosis. Scientists then cut out the chromosomes from the and group them together in pairs. A
More informationEssential Questions. Basic Patterns of Human Inheritance. Copyright McGraw-Hill Education
Essential Questions How can genetic patterns be analyzed to determine dominant or recessive inheritance patterns? What are examples of dominant and recessive disorders? How can human pedigrees be constructed
More informationGenetics 1. Down s syndrome is caused by an extra copy of cshromosome no 21. What percentage of
Genetics 1. Down s syndrome is caused by an extra copy of cshromosome no 21. What percentage of offspring produced by an affected mother and a normal father would be affected by this disorder? (2003) 1)
More informationGenome - Wide Linkage Mapping
Biological Sciences Initiative HHMI Genome - Wide Linkage Mapping Introduction This activity is based on the work of Dr. Christine Seidman et al that was published in Circulation, 1998, vol 97, pgs 2043-2048.
More informationGenetics. by their offspring. The study of the inheritance of traits is called.
Genetics DNA contains the genetic code for the production of. A gene is a part of DNA, which has enough bases to make for many different proteins. These specific proteins made by a gene decide the of an
More information2. Circle the genotypes in the table that are homozygous. Explain how the two different homozygous genotypes result in different phenotypes.
Genetics Supplement (These supplementary modules, a Genetics Student Handout, and Teacher Preparation Notes with background information are available at http://serendip.brynmawr.edu/sci_edu/waldron/#genetics.
More informationEvaluation of Patients with Diffuse Bronchiectasis
Evaluation of Patients with Diffuse Bronchiectasis Dr. Patricia Eshaghian, MD Assistant Clinical Professor of Medicine Director, UCLA Adult Cystic Fibrosis Affiliate Program UCLA Division of Pulmonary
More informationp and q can be thought of as probabilities of selecting the given alleles by
Lecture 26 Population Genetics Until now, we have been carrying out genetic analysis of individuals, but for the next three lectures we will consider genetics from the point of view of groups of individuals,
More informationTesting for Genetic Disorders that Cause Brain Damage
STO-132 Testing for Genetic Disorders that Cause Brain Damage Part 1: Newborn Screening Tests Matt is watching his twins, Anna and Cody, in the newborn nursery. The nurse pokes the babies heels, collects
More informationCELLS. Some human cells
CELLS the basic unit of life living things are composed of at least one cell cells metabolize (obtain energy, use energy, make waste) cells can reproduce cells sense and respond to the environment red
More informationBiology 12 Cell Structure and Function. Typical Animal Cell
Biology 12 Cell Structure and Function Typical Animal Cell Vacuoles: storage of materials and water Golgi body: a series of stacked disk shaped sacs. Repackaging centre stores, modifies, and packages proteins
More informationShould Universal Carrier Screening be Universal?
Should Universal Carrier Screening be Universal? Disclosures Research funding from Natera Mary E Norton MD University of California, San Francisco Antepartum and Intrapartum Management June 15, 2017 Burden
More informationChapter 4. Membrane Structure and Function. Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.
Chapter 4 Membrane Structure and Function Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display. 1 4.1 Plasma Membrane Structure and Function Regulates the entrance
More informationUnit 3 Chapter 16 Genetics & Heredity. Biology 3201
Unit 3 Chapter 16 Genetics & Heredity Biology 3201 Intro to Genetics For centuries, people have known that certain physical characteristics are passed from one generation to the next. Using this knowledge,
More informationHuman Genetics (Learning Objectives)
Human Genetics (Learning Objectives) Recognize Mendel s contribution to the field of genetics. Review what you know about a karyotype: autosomes and sex chromosomes. Understand and define the terms: characteristic,
More informationGenetics Practice Test. A. phenylketonuria B. Tay-Sachs C. hemophilia D. color blindness
Name: ate: 1. Which statement best describes a cloned population?. It is usually produced by sexual reproduction.. The individual organisms usually have varying N sequences.. There are usually no variations
More informationGenetic Diseases. SCPA202: Basic Pathology
Genetic Diseases SCPA202: Basic Pathology Amornrat N. Jensen, Ph.D. Department of Pathobiology School of Science, Mahidol University amornrat.nar@mahidol.ac.th Genetic disease An illness caused by abnormalities
More information15/12/2011. You and your genes (OCR)
You and your genes (OCR) Variation Variation is the name given to differences between individuals of the SAME species. Variation is due to GENETIC or ENVIRONMENTAL causes. For example, consider dogs: 1)
More informationPREDICTING INHERITED TRAITS & PUNNETT SQUARE ANALYSIS
PREDICTING INHERITED TRAITS & PUNNETT SQUARE ANALYSIS GENETICS TERMS AND VOCABULARY DNA- Deoxyribonucleic acid. It is the molecule that codes for our traits. CHROMOSOME - A structure found in the nucleus
More informationChem*3560 Lecture 4: Inherited modifications in hemoglobin
Chem*3560 Lecture 4: Inherited modifications in hemoglobin Genetic modifications fall into two classes: Thalassemias, which are the result of failure to express globin genes. Thalassa is Greek for the
More informationMutations. A2 Biology For WJEC
12. Mutation is a change in the amount, arrangement or structure in the DNA of an organism. 13. There are two types of mutations, chromosome mutations and gene mutations. Mutations A2 Biology For WJEC
More information12.1 X-linked Inheritance in Humans. Units of Heredity: Chromosomes and Inheritance Ch. 12. X-linked Inheritance. X-linked Inheritance
Units of Heredity: Chromosomes and Inheritance Ch. 12 12.1 in Humans X-chromosomes also have non genderspecific genes Called X-linked genes Vision Blood-clotting X-linked conditions Conditions caused by
More informationMUTATIONS, MUTAGENESIS, AND CARCINOGENESIS. (Start your clickers)
MUTATIONS, MUTAGENESIS, AND CARCINOGENESIS (Start your clickers) How do mutations arise? And how do they affect a cell and its organism? Mutations: heritable changes in genes Mutations occur in DNA But
More informationChapter 4 Cell Membrane Transport
Chapter 4 Cell Membrane Transport Plasma Membrane Review o Functions Separate ICF / ECF Allow exchange of materials between ICF / ECF such as obtaining O2 and nutrients and getting rid of waste products
More informationMENDELIAN GENETICS IN HUMANS
AP BIOLOGY EVOLUTION/HEREDITY UNIT Unit 1 Part 4C Chapter 14.4 Activity #6 NAME DATE PERIOD MENDELIAN GENETICS IN HUMANS P EDIGREES Key: =male = female or = affected or = normal F = free earlobes f = attached
More informationBelow are the sections of the DNA sequences of a normal hemoglobin gene and the mutated gene that causes sickle cell disease.
Sickle Cell Analysis Directions: Read the information below to complete the two tables. A person with sickle-cell disease has the genotype: Hb s Hb s. People who have this condition have two abnormal genes,
More informationChapter 1: What is PKU?
Chapter 1: What is PKU? A Parent's Perspective "If our child with PKU had been our first instead of our third, or if we had wanted more children after we had her, we would have done so, even knowing the
More informationA Case of Cystic Fibrosis
Name(s) Date A Case of Cystic Fibrosis Dr. Weyland examined a six month old infant that had been admitted to University Hospital earlier in the day. The baby's parents had brought young Zoey to the emergency
More information