Concept explainers
Go to the OMIM website (http://www.ncbi.nlm.nih.gov/ omim) and locate the Search button at the top of the page. Use the Search function to look up, one by one, the following three human hereditary diseases that are relatively common in certain populations: “Tay–Sachs disease” (select OMIM number 272800 from the search results list); “cystic fibrosis” (select OMIM number 602421 from the search results list); and “sickle cell anemia” (select OMIM 603903 from the search results list). For each of these diseases, look through the information and provide the following details:
a. On which chromosome is the gene for the disease located?
b. What gene is mutated in the disease?
c. Briefly describe the disease.
d. In which population(s) does the disease most commonly occur?
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- What is the genetic basis and phenotype for each of the following disorders (use proper genetic notation)? a. Edwards syndrome b. Patau syndrome c. Klinefelter syndrome d. Down syndromearrow_forwardTony has a sister with cystic fibrosis (CF). Neither of his parents have CF, nor does Tony. Tony is expecting a child with Tina. Tina does not have CF, but otherwise her family history is unknown. A) What is the probability that Tony is heterozygous for the CF gene? B) If the frequency of heterozygotes in the general population is 1/50, what is the probability that Tony and Tina's child will have CF?arrow_forwardWhat is the genotype of a person who has sickle cell disorder and provide a key that identifies what each allele in the genotype represents. (For example, B might represent the normal allele and b might represent the disordered allele) answer can be basic but understandable.arrow_forward
- Because Elsa has received a confirmed diagnosis of beta-thalassemia major, which of the following statements is true about her parents? Only her mother carried the gene that caused her blood disorder. Only her father carried the gene that caused her blood disorder. If her parents have another child naturally, there is a 100% chance that the second child will be diagnosed with beta-thalassemia major. If her parents have another child naturally, there is a 25% chance that the second child will be diagnosed with beta-thalassemia major.arrow_forwardThe father of five children begins to show symptoms of huntington disease. what is the probability that same, the man's second oldest son (11-2),, will suffer from the disease if he lives a normal life span? Sam's mother and her ancestors do not have the diseas. Sam's father was adopted, so we do not know his biological family history for hunutington disease. Explore all possible outcome for sam and explain your reasoningarrow_forwardUse the following information to answer the next five questions. During the summer of 2013 it was determined that a small Nigerian village had a population of 2,089 people. The per capita incidence of people born with sickle- cell anemia (an autosomal recessive disease) in this village, was the highest in the country with 324 people in this population having the condition. The people with sickle-cell anemia require extensive therapy for this otherwise lethal disease. However, a heterozygous advantage exists with carriers of the sickle-cell allele providing resistance to malaria, a lethal disease that is highly prevalent in this village. People heterozygous for the sickle cell allele produce an environment in some of their blood cells that is toxic to the parasite that causes malaria. Show ALL calculations 1. Calculate the phenotypic frequency of sickle- cell anemia in this population expressed as a number between 0 and 1 and rounded to 2 decimal places 2. Calculate the frequency of the…arrow_forward
- Complete a new Punnett square below, for a woman who is a carrier for sickle cell, who is married to a man who has sickle cell. What are the possible genotypes that you can identify, what is the ratio of phenotypes that are possible, and what is the chance that any of the offspring are affected by sickle cell anemia?arrow_forwardAnother couple is concerned their child will be born with sickle cell anemia. The woman does not have sickle cell anemia. The woman’s mother had sickle cell anemia and her father was a carrier of the sickle cell gene. The man knows that he is not a carrier of the sickle cell gene. What is the probability that the child will be a carrier of sickle cell anemia? please include a punnett squarearrow_forwardIn a particular family, children of a diseased mother are all affected, and their maternal grandmother was also affected. But the cousins (children of maternal uncle) are not affected. No disorders were recorded in the paternal side. Can you identify the type of this disorder and provide justifications in support of your identification?arrow_forward
- The following is a summary of the possible sickle-cell genotypes and phenotypes: AA - cojmpletely normal AS - sickle-cell trait (this person has a combination of normal hemoglobin and the abnormal, sickled form of hemoglobin) SS - sickle-cell anemia (all abnormal hemoglobin) Make a punnett square for help answering the question: What is the probability of a couple having a child with sickle-cell trait if one parent is normal and the other has sickle-cell trait?arrow_forward1. What are the symptoms of sickle cell disease (anemia)? 2. What is the genotype of sickle cell disease? Use these sources to find the answers: https://ghr.nlm.nih.gov/condition/sickle-cell-disease#inheritance https://www.cdc.gov/ncbddd/sicklecell/traits.htmlarrow_forwardTwo parents, without any family history of cystic fibrosis (CF), have a child with CF. A. What do you predict the genotypes of the parents to be? (CF is a recessive disorder.) B. What is the chance that the next child of these two parents will also have CF?arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning