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?
Want to see the full answer?
Check out a sample textbook solutionChapter 2 Solutions
Genetic Analysis: An Integrated Approach (3rd Edition)
- At the beginning of the film, you were introduced to Davaun and Skyy Cooper, who both have sickle cell disease. Which of the following must be true about their parents? Group of answer choices One parent has at least one copy of the sickle cell allele. Both parents have at least one copy of the sickle cell allele. Both parents have sickle cell disease. One parent has sickle cell disease.arrow_forwardBelow is a pedigree chart for a family that has a history of Alkaptonuria. Individuals infected with this condition can have darkened skin, brown urine, and can suffer from joint damage and other complications. Given this pedigree answer the following questions. Given the data in the pedigree chart is this genetic condition autosomal dominant or autosomal recessive? What are the genotypes for #1, #2, and #3? If either of the 4th generation "aa" females were to mate with a homozygous dominant male would any of their offspring illustrate the phenotype? Why or why not?arrow_forwardBased on the observed inheritance pattern and ratio of phenotypes, what are the genotypes of the affected children? Select an answer and submit it. For keyboard navigation, use the up/down arrow keys to select an answer. a) If c- = Cystic Fibrosis, the children are c-/c-. b) If c- = Cystic Fibrosis, the children are C/C. c) If c- = Cystic Fibrosis, the children are C/c-. d) If c- = Cystic Fibrosis, the children are C.arrow_forward
- Given the karyotype shown at right, is this a male or a female? Normal or abnormal? What would the phenotype of this individual be?arrow_forwardIf diseases such as cardiovascular disease (hypertension and atherosclerosis) are familial, is this an indication that there is a genetic contribution to these traits? What would you do to confirm that genetics is involved in this condition?arrow_forwardAs it turned out, one of the tallest Potsdam Guards had an unquenchable attraction to short women. During his tenure as guard, he had numerous clandestine affairs. In each case, children resulted. Subsequently, some of the childrenwho had no way of knowing that they were relatedmarried and had children of their own. Assume that two pairs of genes determine height. The genotype of the 7-foot-tall Potsdam Guard was A9A9B9B9, and the genotype of all of his 5-foot clandestine lovers was AABB. An A9 or B9 allele in the offspring each adds 6 inches to the base height of 5 feet conferred by the AABB genotype. a. What were the genotypes and phenotypes of all the F1 children? b. Diagram the cross between the F1 offspring, and give all possible genotypes and phenotypes of the F2 progenyarrow_forward
- 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 read the scenario below, and then answer the question (in bold) that follows. Tay-Sachs disease is a fatal autosomal recessive disorder in children (usually by age 5) that causes a progressive degeneration of the central nervous system. This disease affects 1 in 3,500 newborns of European Ashkenazi Jewish ancestry in the U.S. population. What is the number of carriers in the population? a. 1 person b. 60 persons c. 116 persons d. 3,383 persons e. 3,441 personsarrow_forwardNiemann Pick Type C disease is a recessive disorder that causes the accumulation of cholesterol and other lipids in lysosomes, ultimately affecting both the liver and the nervous system. Below are the genotypes and phenotypes of offspring of a family with a history of Niemann Pick. 7 NN ( all normal phenotype) 3 Nn (all normal phenotype) 4 nn (1 early onset dementia, 1 mid-life onset dementia, 2 late-onset dementia). From this information, Niemann-Pick disease is an example of: A) variable expressivity B) incomplete dominance C) incomplete penetrance D) variable expressivity and incomplete penetrance E) multiple allelesarrow_forward
- Using the given pedigree chart, suppose individuals III-1 and III-2 are expecting their sixth child. What is the chance (percent) that the sixth child will have the sickle cell trait? arrow_forwardHow we can know the rare inherited genetic disorders by the incidence ? Explain.arrow_forwardPlease find an Image/Graphic to represent sickle cell disease: Use at least two different images to help the audience understand the cause and/or inheritance pattern of the disorder you chose. Include a brief 1-2 sentence caption below each image that gives a description of the image and explains its relevance to your chosen disorder. The two images should NOT convey the same exact information. Ideas of images to use include: karyotypes, pedigrees, DNA sequences, etc. Please note: the images should be specific to your chosen disorder. The 2 required images must be related to cause and/or inheritance pattern. Images of an individual with the disorder will not count toward your 2 required images as they do not contribute to the audience's understanding of cause and/or inheritance pattern.arrow_forward
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning