
Concept explainers
To review:
The way in which variable penetrance of the Diamond Blackfan Anemia (DBA) can help in studying the molecular events that cause the disorder.
Introduction:
DBA is classified as an autosomal dominant disorder that is caused by a mutation in one of the 11 genes that code for ribosomal proteins. An individual suffering from this disease is born with birth defects, bone marrow failure, and also has a tendency to develop cancer.
Genetic disorders are caused by the abnormalities of the genome. These disorders are inherited as the genetic information from both the parents is passed down to the progeny. DBA is caused by a mutation in the genes that code for ribosomal protein. The symptoms of this disorder vary from individual to individual. Some of them include fast heartbeat, heart murmur, a pale skin, and birth defects, such as abnormality of the hands, heart, face, kidneys, head, or genital area.

Want to see the full answer?
Check out a sample textbook solution
Chapter 13 Solutions
Essentials of Genetics (9th Edition) - Standalone book
- Explain how the hormones of the glands listed below travel around the body to target organs and tissues : Pituitary gland Hypothalamus Thyroid Parathyroid Adrenal Pineal Pancreas(islets of langerhans) Gonads (testes and ovaries) Placentaarrow_forwardWhat are the functions of the hormones produced in the glands listed below: Pituitary gland Hypothalamus Thyroid Parathyroid Adrenal Pineal Pancreas(islets of langerhans) Gonads (testes and ovaries) Placentaarrow_forwardDescribe the hormones produced in the glands listed below: Pituitary gland Hypothalamus Thyroid Parathyroid Adrenal Pineal Pancreas(islets of langerhans) Gonads (testes and ovaries) Placentaarrow_forward
- Please help me calculate drug dosage from the following information: Patient weight: 35 pounds, so 15.9 kilograms (got this by dividing 35 pounds by 2.2 kilograms) Drug dose: 0.05mg/kg Drug concentration: 2mg/mLarrow_forwardA 25-year-old woman presents to the emergency department with a 2-day history of fever, chills, severe headache, and confusion. She recently returned from a trip to sub-Saharan Africa, where she did not take malaria prophylaxis. On examination, she is febrile (39.8°C/103.6°F) and hypotensive. Laboratory studies reveal hemoglobin of 8.0 g/dL, platelet count of 50,000/μL, and evidence of hemoglobinuria. A peripheral blood smear shows ring forms and banana-shaped gametocytes. Which of the following Plasmodium species is most likely responsible for her severe symptoms? A. Plasmodium vivax B. Plasmodium ovale C. Plasmodium malariae D. Plasmodium falciparumarrow_forwardStandard Concentration (caffeine) mg/L Absorbance Reading 10 0.322 20 0.697 40 1.535 60 2.520 80 3.100arrow_forward
- Biology: The Dynamic Science (MindTap Course List)BiologyISBN:9781305389892Author:Peter J. Russell, Paul E. Hertz, Beverly McMillanPublisher:Cengage LearningBiology: The Unity and Diversity of Life (MindTap...BiologyISBN:9781305073951Author:Cecie Starr, Ralph Taggart, Christine Evers, Lisa StarrPublisher:Cengage LearningBiology 2eBiologyISBN:9781947172517Author:Matthew Douglas, Jung Choi, Mary Ann ClarkPublisher:OpenStax
- Biology Today and Tomorrow without Physiology (Mi...BiologyISBN:9781305117396Author:Cecie Starr, Christine Evers, Lisa StarrPublisher:Cengage LearningAnatomy & PhysiologyBiologyISBN:9781938168130Author:Kelly A. Young, James A. Wise, Peter DeSaix, Dean H. Kruse, Brandon Poe, Eddie Johnson, Jody E. Johnson, Oksana Korol, J. Gordon Betts, Mark WomblePublisher:OpenStax CollegeBiochemistryBiochemistryISBN:9781305577206Author:Reginald H. Garrett, Charles M. GrishamPublisher:Cengage Learning





