* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download 3. How are Connie and Derek related to each
Tay–Sachs disease wikipedia , lookup
Human genetic variation wikipedia , lookup
History of genetic engineering wikipedia , lookup
Quantitative trait locus wikipedia , lookup
Epigenetics of neurodegenerative diseases wikipedia , lookup
Nutriepigenomics wikipedia , lookup
Dominance (genetics) wikipedia , lookup
Genetic engineering wikipedia , lookup
Genetic testing wikipedia , lookup
Population genetics wikipedia , lookup
Medical genetics wikipedia , lookup
Neuronal ceroid lipofuscinosis wikipedia , lookup
Gene expression programming wikipedia , lookup
Saethre–Chotzen syndrome wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
Public health genomics wikipedia , lookup
Designer baby wikipedia , lookup
Frameshift mutation wikipedia , lookup
Skewed X-inactivation wikipedia , lookup
Y chromosome wikipedia , lookup
Point mutation wikipedia , lookup
Microevolution wikipedia , lookup
X-inactivation wikipedia , lookup
GENETICS PERFORMANCE TASK Name ________________________ Pd _________ NGS Standards: HS-LS3-1. Ask questions to clarify relationships about the role of DNA and chromosomes in coding the instructions for characteristic traits passed from parents to offspring. HS-LS3-2. Make and defend a claim based on evidence that inheritable genetic variations may result from: (1) new genetic combinations through meiosis, (2) viable errors occurring during replication, and/or (3) mutations caused by environmental factors. HS-LS3-3. Apply concepts of statistics and probability to explain the variation and distribution of expressed traits in a population. Introduction: You are a genetic counselor who specializes in family history and disease heredity. A young couple, William and Connie come to your office seeking a consult regarding their family history with a disease called Fanconi Anemia. Individuals with this disease can experience affects in many parts of the body, including bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. While this disease is rare (1 in 160,000 people), William and Connie both have a family member with the condition and they are concerned about the risk of their own future children inheriting the condition. Family History: William’s family: · William’s parents, John and Florence, had four children. · William is the eldest. · His sister Martha, is the second eldest. She is divorced to Jim. They never had any children. · Paul, the third child, married Bonnie. Together they had two healthy girls: Gretchen and Stephanie. · Dan is William’s youngest sibling. He also married and he and his wife, Terri, had two children: Susan the oldest and Michael the youngest. Michael, who is five years old, suffers from serious affects due to Fanconi Anemia. Connie’s family: · Connie’s parents, Louis and Lenora are deceased. Together, they had three daughters. · Ann is the oldest daughter. She has never married or had children. · Connie is the middle child. · Cathy is the youngest child. She and her husband, Bob, have two children: Lindsay (oldest) and Derek (youngest). Derek is normal, however Lindsay has Fanconi Anemia and is scheduled for a bone marrow transplant next month. 1. Use the family history above to create a genetic family pedigree for William and Connie’s family. Shade in the shapes that represent individuals who have Fanconi Anemia. 2. How does this disease appear to be inherited? (dominant, recessive, sex-linked, etc.) 3. How are Connie and Derek related to each other? 4. If William and Connie are both carriers for the Fanconi Anemia gene, what is the probability that a child of theirs will have Fanconi Anemia? 5. If William and Connie have a healthy baby, do they still need to be concerned about Fanconi Anemia for their future children? Explain your answer. Use A, a alleles for the questions Punnett Square below. 6. Show a punnett square that shows Cathy and Bob as the parents. Circle the box(es) that show possible genotypes for Lindsay. Put an X through the box(es) that show possible genotypes for Derek. 7. Fill out the chart below for family member genotypes and phenotypes. Family Member Genotype (AA, A?, Aa, aa) Phenotype (healthy or FA) Dan Paul Lenora Michael Cathy 8. Most of the cases of Fanconi Anemia can be traced to mutations in one of 3 different genes: FANCA, FANCC, and FANCG. Several of the people in the family wish to be tested for the mutation. Below are the results from sequencing the FANCC gene on each of their #16 chromosomes. Family Member FANCC gene sequence Lenora Chromosome 16.1 Chromosome 16.2 TTA GGG CAC CCG TAC GTC GCT TTA GGG CAC GCG TAC GTC GCT Terri Chromosome 16.1 Chromosome 16.2 TTA GGG CAC GCG TAC GTC GCT TTA GGG CAC CCG TAC GTC GCT Louis Chromosome 16.1 Chromosome 16.2 TTA GGG CAC CCG TAC GTC GCT TTA GGG CAC CCG TAC GTC GCT Ann Chromosome 16.1 Chromosome 16.2 TTA GGG CAC CCG TAC GTC GCT TTA GGG CAC CCG TAC GTC GCT Lindsay Chromosome 16.1 Chromosome 16.2 TTA GGG CAC GCG TAC GTC GCT TTA GGG CAC GCG TAC GTC GCT Use the DNA sequences above to answer the following questions: 9. According to the samples above, what appears to be the normal (unmutated) sequence of the FANCC gene? 10. Which of the following describes the mutation? a. A substitution of cytosine with guanine b. A deletion of a cytosine base c. A substitution of adenine with guanine d. An insertion of a cytosine base 11. Which of these is the best description of Louis’ genotype? a. homozygous recessive b. homozygous dominant c. heterozygous d. There is not enough information to determine. 12. Which of Terri’s chromosomes carries the mutation for Fanconi Anemia? 13. According to the samples, which parent did Terri receive the mutation from? 14. If Ann should ever marry a carrier for the disease and have a child, what are the chances that the child will be affected with Fanconi Anemia? Draw a punnett square to support your answer. 15. As a genetic counselor, your job is strictly to provide the family with as much information and facts as you can; however, William and Connie are seeking your advice as to whether or not you think they should have children. Record your response below using scientific, financial, social, ethical, etc. considerations to support your answer.