Pedigree analysis of cystic fibrosis activity teaching. The sweat glands and the reproductive system are also usually involved. The powerpoint this presentation explains how to setup genetic pedigrees and proceeds to show you a fictional family. Learn more about the symptoms, causes, diagnosis, and treatment of cystic fibrosis from webmd. Because cystic fibrosis disease can seriously affect your childs development, and in particular her lungs and pancreas, engaging in interactive special needs. Inheritance and mutations in a singlegene disorder. Cystic fibrosis is less common in other ethnic groups, affecting about 1 in 17,000 african americans and 1 in 31,000 asian americans.
Cystic fibrosis fully editable, science reading activity disciplinary literacy for grades 57 ages 1012 as well as older students with lower developed learning levels. Each group races to use the clues to build a pedigree analysis for the family. Pedigree analysis of cystic fibrosis activity teaching resources. What chance is there that the woman herself is a carrier for the frait. Inheritance and mutations in a singlegene disorder educator.
Affected males receive the mutant allele from their mother and transmit it to all of their daughters, but not to their sons. A pedigree is just like a family tree except that it focuses on a specific genetic trait. Their third child, morag, was a daughter with cystic fibrosis. Samuel is a carrier, the girls have a 50% chance of getting either allele from sam so 50% probability. The linkage of polymorphic dna markers on chromosome 7 to cystic fibrosis cf was examined in two pedigrees and a number of smaller nuclear families.
Cystic fibrosis is an autosomal recessive, monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator cftr gene. An example of a genetic disease is cystic fibrosis cf. Mar 04, 2014 each group races to use the clues to build a pedigree analysis for the family. You can make an informed decision by learning more about the different family building options and. Cystic fibrosis is controlled by a recessive allele n. Cf pri marily affects the respiratory and digestive systems in children and young adults. In the united states, cystic fibrosis occurs at a rate of 1 in 3,400 births. The squares represent males in the family tree and the circles represent females. This protein is called the cystic fibrosis transmembrane. Ironically, boomer was involved in cystic fibrosis awareness and fundraising campaigns for several years before his son was diagnosed. Gunnar was diagnosed with cystic fibrosis when he was two years old.
Page 3 of 7 activity you may want to have students work in pairs or small groups to complete this activity. Steve, a husband in the f1 generation is homozygous normal, cfcf. Jack has a brother with cystic fibrosis rare recessive trait. Pedigree analysis is an example of abductive reasoning. The cause is a mutation in the cystic fibrosis transmembrane conductance regulator cftr gene. Cystic fibrosis is a common genetic disease within the white population in the united states. Sep 22, 2017 cystic fibrosis cf is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. A pedigree is a visual chart that depicts a family history or the transmission of a specific trait. Pedigree analysis biol110new kensington confluence. This tutorial examined some human genetic diseases, including cystic fibrosis, pku, and sicklecell disease. You know that cystic fibrosis is controlled by a recessive allele. Over the next few years they had two normal, healthy sons, hamish and gordon.
The disease occurs in 1 in 2,500 to 3,500 white newborns. Construct pedigree using available information rule out all patterns of inheritance. The cftr protein is located in every organ of the body that makes mucus, including the lungs, liver, pancreas, and intestines, as well as sweat glands the cftr protein has also been found in. It is now appreciated that the broad phenotypic cf spectrum is not explained by obvious genotypephenotype correlations, suggesting that cf transmembrane conductance regulator cftrrelated disease may occur because of multiple additive effects. Mar 29, 2010 this tutorial examined some human genetic diseases, including cystic fibrosis, pku, and sicklecell disease. Mollie and carlos go for genetic testing mollie refused any prenatal testing and the couple decided to go ahead and have a family.
The affected gene is the cystic fibrosis transmembrane regulator cftr, which when mutated produces an abnormal production of the cystic fibrosis transmembrane regulator protein 123. The genetic makeup of individuals in the pedigree might be determined if one understands the laws of heredity and probability. Understanding the inheritance and expression of an autosomal recessive trait. List the genotypes of each individual in the pedigree below. Pedigree analysis human genetics mendelian analysis. The most affected group is caucasians of northern european ancestry. Cystic fibrosis also known as cf or mucoviscidosis is an autosomal recessive genetic disorder affecting most critically the lungs, and also the pancreas, liver, and intestine.
The cftr gene provides instructions for the cftr protein. Nevertheless, the information gained has led to new. New intranasal imaging to study airways in patients with cystic fibrosis. Pedigree for determining probability of exhibiting sex linked recessive trait. Genetics pedigree worksheet answer key huntington s disease. In pedigree analysis you need to look for any clues that will allow you to decide if the trait is dominant or recessive and whether it is linked to an autosomal chromosome, or to the x chroomsome. Pedigrees are used primarily by genetic counselors when helping couples. Each group is given 8 squares and 3 circles to cut out.
Background cystic fibrosis, also known as cf is a commondisease that are inherited and mostly found inyoung population. Cystic fibrosis centers for disease control and prevention. Patients with cf have abnormal transport of chloride and sodium across secretory epithelia, resulting in thickened, viscous secretions in the bronchi, biliary tract, pancreas, intestines, and reproductive system. Cystic fibrosis what is cystic fibrosis cystic fibrosis cf is a chronic, progressive, and frequently fatal genetic inherited dis ease of the bodys mucus glands. Pedigree activity cystic fibrosis cf is the most common lethal genetic disorder among the caucasian population in the united states. The game uses names from popular culture the kids loved it. Over 30,000 people in the united states suffer from cf. One in 29 people of caucasian ancestry is an unaffected carrier of the cf gene mutation. Cystic fibrosis the journal of molecular diagnostics. A depleted volume of the airway surface liquid asl layer in the respiratory system leads to abnormal mucociliary clearance2.
Gunnar esiason, born in 1991, is the son of former nfl football star boomer esiason and his wife cheryl. Patterns in the pedigree are used to determine pedigree. Shade in the circles or squares representing the individuals who have cystic fibrosis. Cystic fibrosis carriers at increased risk of digestive symptoms. Use circles to represent the females, and squares to represent the males. Cystic fibrosis cf is a genetic disorder that causes mucus to build up and damage organs in the body, particularly the lungs and pancreas. You can make an informed decision by learning more about the different family building options and what parenting with cf could entail. Cystic fibrosis is an inherited disease caused by mutations in a gene called the cystic fibrosis transmembrane conductance regulator cftr gene.
Introduction cystic fibrosis also known as cf or mucoviscidosis is a common disease which affects the entire body, causing progressive disability and often early death. To help you figure out joshua and bellas family pattern, create. In severe cases of cystic fibrosis, when the lungs stop working properly and all medical treatments have failed to. Some students do struggle with these charts, so i usually practice doing a few with them. The cystic fibrosis trust has information on eating well with cystic fibrosis and nutrition advice factsheets for adults and children. As a result, the gas exchange process in inhibited. Write in the genotypes on the line next to below each individual. If your child has cystic fibrosis cf, one of your main concerns might be which special needs activities are best suited for him in order to complement his cystic fibrosis treatment. Students may ask if pedigrees will still be useful as human genomes become cheaper and easier to sequence. Cystic fibrosis genetic and rare diseases information. Pedigree is an orderly presentation of family information. Building a pedigree activity a pedigree is a diagram that shows how organisms are related and also traces the occurrence of a particular trait or characteristic for several generations. Hemophilia is a sexlinked genetic disease caused by recessive allele x which doesnt allow the blood to clot. Cystic fibrosis cf is a multisystemic autosomal recessive disease caused by a defect in the expression of cftr protein, i.
Cystic fibrosis cf is an inherited condition that causes mucus and secretions to become thick and sticky. Write the possible genotypes next to every individual in the pedigree. Below is an autosomal pedigree tracing the passing of the cystic fibrosis gene through 3 generations. Dec 15, 2007 cystic fibrosis is the commonest inherited disease in white populations, with an incidence of 1 in 2500 newborns. Daughters of affected males are usually heterozygous sons of heterozygous females have a 50% chance of being affected. You can use various traits in your family if youd like artistic. These diseases are found in individuals that are homozygous for the gene, but as you learned, the heterozygous state has a welldocumented advantage in the case of the sicklecell disease and a probable advantage in the case of cystic. What chance is there that the woman herself is a carrier for the trait. Cystic fibrosis affects at least 30,000 people in the united states. Female hemophiliacs are homozygous recessive, but carrier females have only one allele and their blood clots normally. Inheritance and mutations in a singlegene disorder educator materials genetic disease september 2019. At the end they must answer what is the chance of harry havingnot having cystic fibrosis or being a carrier. Family planning and parenting with cf cf foundation.
Cystic fibrosis is the commonest inherited disease in white populations, with an incidence of 1 in 2500 newborns. What chance is there that her mother is a carrier heterozygous for the trait. The pedigrees are multigenerational and together consist of more than 300 members including 30 affected individuals, while the nuclear families each have two generations and either two or three. In severe cases of cystic fibrosis, when the lungs stop working properly and all medical treatments have failed to help, a lung transplant may be recommended. If the parents are both heterozygous aa x aa many students will be confused about the genotype. Famous people with cystic fibrosis verywell health. Cystic fibrosis is an example of an autosomal recessive trait disabling and fatal disorder affects sweat glands and glands that produce. The pedigrees focus on human genetic diseases, such as albinism, cystic fibrosis, taysachs, and sickle cell anemia. Genetic pedigree powerpoint and cystic fibrosis worksheet. An introduction to reading and analyzing pedigrees. Cystic fibrosis is a genetic disorder caused by the dysfunction of a protein that transports sodium and chloride across cell membranes. I would use the powerpoint before using the worksheet. Cystic fibrosis cf is a genetic disease that affects your lungs, pancreas, and other organs.
Cystic fibrosis cf is the most frequent cause of suppurative lung disease in the younger caucasian population. As an adult with cystic fibrosis who is thinking about starting a family, there are many considerations related to your health, fertility, finances, and what life will be like as a parent. A womans sister has cystic fibrosis, a disease caused by recessive genes. The gene defect was first described 25 years ago and much progress has been made since then in our understanding of how cftr mutations cause disease and how this can be addressed therapeutically. This activity uses real pedigrees and sequence data from published. It is an autosomal recessive disorder whichmeans that a person must receive two altered cfgenes in order to get this condition. Cystic fibrosis a fatal recessive genetic disorder associated with abnormal secretions of the exocrine glands the cf gene and organ systems affected by cystic fibrosis cystic fibrosis gene product. A chronic cycle of infection and inflammation results in progressive suppurative bronchiectasis and lung damage. Pedigree worksheet side 2 answers key pedigree worksheet side 2.
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