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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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Chapter 2 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
- 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_forwardPlease solvearrow_forwardPedigree 1: What is the most likely mode of inheritance of this disease given its pattern on the pedigree? Autosomal Dominant Autosomal Recessive O X-Linked Dominant O X-Linked Recessivearrow_forward
- What 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_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_forwardUsing the two equations, p + q = 1 and p2 + 2pq + q2 = 1, answer the following question A Hispanic-American couple wants to know their risk for having a child with cystic fibrosis. One parent has no family history of disease, but the other parent has a sibling with cystic fibrosis. Calculate the conditional probability that the couple has a child with cystic fibrosis.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_forwardinterpret using the punnett square below to both sets of parents (Parents A , Parents B, & Parents C).based on your results of filling in the boxes. What are the chances Parents A, Parents B, and Parents C will have a child with Sickle Cell? What are the chances the child will be a carrier for Sickle Cell?arrow_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
- Over a thousand different alleles at the CFTR locus have been discovered that can cause cystic fibrosis. What difficulties might the presence of so many different alleles at this locus create for the diagnosis and treatment of cystic fibrosis?arrow_forwardHuntington disease (HD) is a genetic disorder that usually first appears in middle age and, over time, leads to involuntary movements, impaired speech, difficulty swallowing and speaking, and cognitive decline. There is no cure for HD, and affected individuals eventually die, usually after 10 to 15 years of progressively worsening symptoms. Huntington disease is inherited as an autosomal dominant disorder. Presymptomatic genetic testing for HD is available for people with a family history of the disease. Individuals who have a parent with HD have a 50% chance of inheriting the HD gene and eventually having HD. Some of these individuals want to know if they will eventually get the disease, and they undergo presymptomatic genetic testing. Others do not want to know, given that there is no cure or effective treatment for the disease. If you were at risk for HD, would you want to undergo genetic testing? What are some reasons for and against having a genetic test for HD?arrow_forwardCan you please check my answer and please let me know which one is wrong.arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning
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