After reading and understanding the analysis of pedigrees, close the mendelian genetics window and return to this page. A womans sister has cystic fibrosis, a disease caused by recessive genes. A pedigree is a visual chart that depicts a family history or the. Cystic fibrosis is an autosomal recessive, monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator cftr gene. A pedigree chart displays a family tree, and shows the members of the family who are affected by a genetic trait. Autosomal dominance worksheet autosomal dominance is another inheritance pattern we will learn. Some students do struggle with these charts, so i usually practice doing a few with them. A typical pedigree consists of universally accepted symbols connected by either horizontal or vertical lines.
A couple has a child with cystic fibrosis, and they have a child that is not affected by cystic fibrosis. Until now, disorders such as cystic fibrosis, pku, and sickle cell anemia have been recessive. Below is an autosomal pedigree tracing the passing of the cystic fibrosis gene through 3 generations. Cystic fibrosis is an autosomal recessive disorder that results in abnormal body secretions. Cystic fibrosis cf is one of the most common autosomal recessive disorders in the caucasian population but is uncommon in asians.
The pedigrees below trace the pedigrees practice the biology corner the pedigree below represents a family with cystic fibrosis autosomal recessive. Pedigree activity cystic fibrosis cf is the most common lethal genetic disorder among the caucasian population in the united states. Those with cf are unable to clear mucus from their lungs. Pedigree analysis an overview sciencedirect topics. This worksheet gives students a chance to practice identifying genotypes on pedigree charts. Patterns in the pedigree are used to determine pedigree.
The game uses names from popular culture the kids loved it. One in 29 people of caucasian ancestry is an unaffected carrier of the cf gene mutation. I would use the powerpoint before using the worksheet. In the united states, cystic fibrosis occurs at a rate of 1 in 3,400 births. It is important to start slowly and only exercise at a level you are comfortable with. Pedigree practice on a separate sheet of paper, draw the pedigrees using the given information and then answer the questions that follow. Unfortunately, gregor suffers from cystic fibrosis. Compound heterozygous mutations in cftr causing cbavd. What chance is there that the woman herself is a carrier for the trait. Choose activities that you enjoy and work up to a moderate intensity over time. In cystic fibrosis, a change in a single gene causes the protein called cftr to.
Indicate the genotypes for each of the family members. Patterns of inheritance autosomal dominant and autosomal. Ultimately, the research may have medical applications, though ironically not likely for most cystic fibrosis patients. A pedigree at the bottom of the pedigree add a brief section explaining the chances of their child being unaffected by cf, a carrier of cf, and affected by cf. Paragraph about what cystic fibrosis is and the symptoms. This disorder causes mucus to build up in the lungs, resulting in difficulties with breathing. Pedigree practice sheet woodstownpilesgrove regional. Patterns in the pedigree are used to determine how a trait is inherited autosomal dominant. In a pedigree, the trait of interest can be dominant or recessive. Cystic fibrosis cf is one of the most common genetic diseases that affects people.
This project was created with explain everything interactive whiteboard for ipad. Pedigree analysis of cystic fibrosis activity teaching. The relationship between the cystic fibrosis transmembrane conductance regulator gene cftr, omim. Pedigree analysis human genetics mendelian analysis. Genetic pedigrees family trees in these diagrams, people are represented by symbols, usually circles for female and squares for male, and the bottom line represents the children of the couple above. 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.
The pedigrees focus on human genetic diseases, such as albinism, cystic fibrosis, taysachs, and sickle cell anemia. As a result, the gas exchange process in inhibited. Cistic fibrosis is a genetic recessive disorder caused by a. Cystic fibrosis western australia cfwa may also be of use to you as they have a range of programs to assist in supporting an active lifestyle.
Each group races to use the clues to build a pedigree analysis for the family. This fictional story starts with selma and gregor who have three children. Write in the genotypes on the line next tobelow each individual. If yes, attach a pedigree or specify the relationship of the family members to the patient. Gregor mendel studied peas by crossing different varieties to see what kind of offspr. Has dna testing been performed for the family members.
The punnett square you crossed in reference to the cftr gene page 7. Write in the genotypes on the line next to below each individual. Below is an autosomal pedigree tracing the passing of the cystic fibrosis gene through three 3 generations. However, there are examples where the disorder is dominant and being healthy is recessive. Nevertheless, the information gained has led to new therapeutic approaches that address key factors of cystic fibrosis pathophysiology. This pedigree shows the incidence of cystic fibrosis in two families. Autosomal dominant disorders caused by the presence of at least 1 dominant allele on autosomes dominant genetic disorders are less common than recessive disorders. Pedigree is an orderly presentation of family information. Pedigree analysis is an example of abductive reasoning. In humans, controlled crosses cannot be made, so geneticists must resort to scrutinizing family records in the hope that informative.
Studying human genetics no guided notes, though i do print the slides 4 per page, landscape for students to work on the pedigrees with me. 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. The walker family pedigree, shown below, allows us to trace the inheritance of cystic fibrosis. Pedigrees are particularly valuable in understanding the inheritance of unifactorial singlegene traits such as albinism, cystic fibrosis, and hemophilia. About 1 in 25 caucasians are estimated to be carriers. Consequently, the cystic fibrosis pig provides an opportunity to address the sequence of events in earlystage lung disease and to. Our full lesson includes indepth video explanations of sex linked traits and pedigrees. A pedigree analysis should be performed as part of the history to determine. A pedigree can be used to visually represent mendelian inheritance of a trait.
Cystic fibrosis affects at least 30,000 people in the united states. Cystic fibrosis is an autosomal recessive disorder where mucus develops in the lungs, the liver and the pancreas. Genetic pedigree powerpoint and cystic fibrosis worksheet. What chance is there that her mother is a carrier heterozygous for the trait. The porcine model of cystic fibrosis develops lung disease comparable to that observed in humans, albeit at an earlier stage of life 50. In order to read family pedigrees, it is important to understand the conventions of pedigrees.
Genetics pedigree worksheet answer key huntington s disease. Because twothirds of cystic fibrosis patients fail to produce the cystic fibrosis channel altogether, a cure for most is expected to. At the end they must answer what is the chance of harry havingnot having cystic fibrosis or being a carrier. Pedigree analysis biol110new kensington confluence. The pedigrees are multigenerational and together consist of more than 300 members including 30 affected. In autosomal dominant inheritance, only one copy of a disease allele is necessary for an individual to be susceptible to expressing the phenotype with each pregnancy, there is a one in two 50% chance the offspring will inherit the disease allele. Cystic fibrosis is a genetic disorder in homozygous recessives that causes death during the teenage years. The majority of harmful genetic conditions are only seen when an individual is homozygous recessive examples of conditions caused by recessive alleles include cystic fibrosis a disease of the secretory glands, including those that make mucus and sweat. Explore autosomal recessive trait and xlinked recessive trait tracking in pedigrees with the amoeba sisters. Theres a practice pedigree worksheet for students to do on their own. The following pedigree is tracing cystic fibrosis in a family.
The pedigree below represents a family with cystic fibrosis autosomal recessive. The worksheet this document follows a fictional family over the course of four generations. Answer the following questions based on the pedigree. You can generally figure out if the trait is sexlinked recessive or sexlinked dominant if there is a mother with the xhxh recessive or if the mother has xhxh. In both cystic fibrosis and sickle cell disease, a small change in the dna of a single gene affects the structure of a protein, causing a. A powerpoint and notes sheet will explain how to solve the problems and teach students about pedigree charts. Healthcare professionals have long known that common diseases e. In humans, polydactyly is a condition where a person has extra fingers or toes. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Complications in mendelian pedigree patterns nptel. If 4 in 10,000 newborn babies have the disease, what are the expected frequencies of the three genotypes in newborns, assuming the population is at hardyweinberg equilibrium.
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