Concept explainers
To analyze:
The given link and study the Fragile X syndrome
Introduction:
Fragile X syndrome-
It is an X- linked dominant inherited disease. The condition is characterized by trouble in learning, developmental problems, and intellectual debility. In X- linked dominant diseases, one copy of mutated allele is enough to cause the disease that is present on the X chromosome.
The trinucleotide repeats:
The DNA- Deoxyribonucleic acid is a double helix structure, comprises three lettered code known as “Codons” or “Trinucleotide repeats”. The disorders that are related to Trinucleotide repeat shows the mutation that exceeds the normal codon repeats per gene or introns, halting the normal functioning of that gene.
In Fragile X syndrome, both genders are equally affected, but the severity can be seen more in males than females. The gene that causes Fragile X syndrome is FMR
Want to see the full answer?
Check out a sample textbook solutionChapter 2 Solutions
Study Guide And Solutions Manual For Genetic Analysis: An Integrated Approach
- a. Which gene is mutated in individuals with sickle-cell anemia? b. What are the major symptoms of this disorder? c. What was the first published scientific description of sickle-cell anemia? d. Describe two other features of this disorder that you learned from the OMIM database and state where in the database you found this informationarrow_forwardWhich of the following is true regarding understanding the results of genetic testing? A. If the test shows that you have the allele for a genetic disorder, you may be able to reduce your risk of developing that disorder with lifestyle changes. B. If the test shows that you have the allele for a genetic disorder, you will, eventually, show symptoms of that disorder. C. Because we know the functions of all the genes in the human genome, genetic tests can give you complete and accurate information regarding your medical health. D. If the test shows that you do not carry the allele for a particular disorder, there is no chance that you will get that disorder.arrow_forwardPhenylketonuria (PKU) is a human hereditary disease resulting from the inability of the body to process the chemical phenylalanine, which is contained in the protein we eat. PKU is manifest in early infancy and, if it remains untreated, generally leads to cognitive impairment. PKU is caused by a recessive allele with simple Mendelian inheritance. A couple intends to have children but consults a genetic counselor because the man has a sister with PKU and the woman has a brother with PKU. There are no other known cases in their families. They ask the genetic counselor to determine the probability that their first child will have PKU. What is this probability?arrow_forward
- Explain the following diagram. It refers to a pedigree on the disease called phenylketonuria. Briefly explain about the disease; include biochemical and genetic aspects. Then interpret the pedigree. Say what type of inheritance the condition exhibits.arrow_forwardClick on the link: https://www.dailymail.co.uk/news/article-4168946/Mum-world-s-black-woman-two-white-babies.html#ixzz4hvs1FUeM.Links to an external site. This case explores how skin color is inherited in humans, presented in the story of Catherine and Richard Howarth whose children are surprisingly light skinned compared to their Nigerian mother. Based on what you have learned about polygenic inheritance, explain how Richard and Catherine Howarth were able to produce light-skinned babies. Are the odds indeed 1 in a million? Include possible genotypes of the couple and their children to support your argument.arrow_forwardPhenylketonuria (PKU) is a disease that results from a recessive gene.Suppose that two unaffected parents produce a child with PKU. a. What is the probability that a sperm from the father will contain the PKU allele?b. What is the probability that an egg from the mother will contain the PKU allele?c. What is the probability that their next child will have PKU?d. What is the probability that their next child will be heterozygous for the PKU gene?arrow_forward
- Phenylketonuria (PKU) is a disease that results from a recessive gene. Suppose that two unaffected parents produce a child with PKU. a. What is the probability that a sperm from the father will contain the PKU allele? b. What is the probability that an egg from the mother will contain the PKU allele? c. What is the probability that their next child will have PKU? d. What is the probability that their next child will be heterozygous for the PKU gene?arrow_forwardMatch the genetic disorder to the descriptions below: Edward Syndrome Jacob Syndrome Patau Syndrome Turner Syndrome Prader-Willi Syndrome Down Syndrome (trisomy) Klinefelter Syndrome Cri du Chat 18-Q Deletion Syndrome Translocation Down Syndrome ________ deletion of part of the P arm of chromosome 5. Improperly developed larynx causes cat-like cry until age 2. IQ is under 20. ________ deletion of Q arm of chromosome 15. Affected individuals have a small head, are retarded, and exhibit bizarre behavior. ________ deletion of Q arm of chromosome 18. Affected individuals have thirteen pairs of ribs (normal is 12 pairs) and IQ under 30. ________ extra 21st chromosome attaches to chromosome 14. Affected individ- uals exhibit epicanthic folds of eyelids, simian crease in palms, and retardation. ________ trisomy 18. Affected individuals…arrow_forwardList the three questions asked to analyze a human pedigree.arrow_forward
- The following pedigree shows the pattern of inheritance for an uncommon human disease. Filled symbols indicate individuals with the disease: open symbols indicate normal individuals. Using the symbols A and a, answer the following questions about this pedigree. (fill in the blanks)arrow_forwardGive a concise answer to the question: Under what circumstances, if any, should a government mandate any type of genetic testing?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
- Human Anatomy & Physiology (11th Edition)BiologyISBN:9780134580999Author:Elaine N. Marieb, Katja N. HoehnPublisher:PEARSONBiology 2eBiologyISBN:9781947172517Author:Matthew Douglas, Jung Choi, Mary Ann ClarkPublisher:OpenStaxAnatomy & PhysiologyBiologyISBN:9781259398629Author:McKinley, Michael P., O'loughlin, Valerie Dean, Bidle, Theresa StouterPublisher:Mcgraw Hill Education,
- Molecular Biology of the Cell (Sixth Edition)BiologyISBN:9780815344322Author:Bruce Alberts, Alexander D. Johnson, Julian Lewis, David Morgan, Martin Raff, Keith Roberts, Peter WalterPublisher:W. W. Norton & CompanyLaboratory Manual For Human Anatomy & PhysiologyBiologyISBN:9781260159363Author:Martin, Terry R., Prentice-craver, CynthiaPublisher:McGraw-Hill Publishing Co.Inquiry Into Life (16th Edition)BiologyISBN:9781260231700Author:Sylvia S. Mader, Michael WindelspechtPublisher:McGraw Hill Education