Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)
3rd Edition
ISBN: 9780135564172
Author: Mark Sanders, John Bowman
Publisher: PEARSON+
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Chapter B, Problem 2P
Summary Introduction
To review:
To discuss Homocystinuria and its specialized diet based treatment.
Introduction:
Homocystinuria is an inherited disorder in which the body is unable to process certain amino acids properly due to a deficiency of cystathionine beta synthase. Homocystinuria is a disorder of methionine
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2) Indicate the pattern of inheritance for the human genetic disorders. Use letter symbols for your answers (AR, AD, XR,XD, M) where appropriate.
Table 2.
HUMAN GENETIC DISORDER
PATTERN OF INHERITANCE
Marfan Syndrome
Sickle Cell Anemia
Classical Hemophilia
Hypophosphatemia
Cystic Fibrosis
Phenylketonuria
Huntington’s Disease
Tay Sachs Disease
Neurofibromatosis
Alkaptonuria
Xeroderma pigmentosum
Kearns-Sayre Syndrome
Achondroplasia
Beta thalassemia
Duchene Muscular Dystrophy
All the non-shaded individuals are wild type apart from III.1. III.1 has been proven to have the causative mutation for this Autosomal Dominant condition, but they exhibit no symptoms.What is the percentage level of penetrance for the condition in the diagram?
Why Recessive CF disease alleles either produce no CFTR or produce nonfunctional or less functional versions of the protein?
Chapter B Solutions
Pearson eText Genetic Analysis: An Integrated Approach -- Instant Access (Pearson+)
Ch. B - Prob. 1PCh. B - Prob. 2PCh. B - B.3 Log on to the National Institute for Child...Ch. B - B.4 What communitybased genetic screening...Ch. B - B.5 Describe the gene and protein defects in...Ch. B - B.6 A couple and some of their relatives are...Ch. B - Prob. 7PCh. B - Do you think it is important that participation in...Ch. B - B.9 If a man and a woman are each heterozygous...Ch. B - B.10 Suppose a man and a woman are each...
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- Analysis of Autosomal Recessive and Dominant Traits Describe the primary gene or protein defect and the resulting phenotype for the following diseases: a. cystic fibrosis b. Marfan syndromearrow_forwardAchondroplasia is a rare dominant autosomal defect resulting in dwarfism. The unaffected brother of an individual with achondroplasia is seeking counsel on the likelihood of his being a carrier of the mutant allele. What is the probability that the unaffected client is carrying the achondroplasia allele?arrow_forwardMike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Seventy-five percent of people who carry the mutant allele will get colon cancer by age 65. This is an example of incomplete penetrance. What could cause this?arrow_forward
- Mike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Once a family member is tested for the mutant allele, is it hard for other family members to remain unaware of their own fate, even if they did not want this information? How could family dynamics help or hurt this situation?arrow_forwardMike was referred for genetic counseling because he was concerned about his extensive family history of colon cancer. That family history was highly suggestive of hereditary nonpolyposis colon cancer (HNPCC). This predisposition is inherited as an autosomal dominant trait, and those who carry the mutant allele have a 75% chance of developing colon cancer by age 65. Mike was counseled about the inheritance of this condition, the associated cancers, and the possibility of genetic testing (on an affected family member). Mikes aunt elected to be tested for one of the genes that may be altered in this condition and discovered that she did have an altered MSH2 gene. Other family members are in the process of being tested for this mutation. Is colon cancer treatable? What are the common treatments, and how effective are they?arrow_forwardFragile-X syndrome causes the most common form of inherited intellectual disability. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?arrow_forward
- There are six types of agglutinogen named C,D, E and c,d,e.the first three are dominant and last three are recessive.discussarrow_forwardJekyll-Hyde Afflicted Spider Curse Afflicted Jekyll-Hyde/Spider Curse I O Human 1 II 1 III 4. Jekyll-Hyde disease is characterized by transformation into an unfeeling, aggressive, alter ego at night. While the "Spider Curse" is a disease that causes affected individuals to grow extra arms and extra eyes during a full moon. The genes responsible for these diseases sort independently and both traits run in one family. Based on the above pedigree answer the following questions: What is the mode of inheritance for Jekyll-Hyde disease? (Hint: look at individuals III-1 & III-3) O a. Autosomal Dominant O b. Autosomal Recessive O c. X-Linked Dominant O d. X-linked Recessive What evidence supports your hypothesis? Give at least 2 pieces of information from the pedigree that support your answer to 3a. Answer: 2. 3. 2. 2.arrow_forward1a) Explain how amino acids in casein could reach the liver, starting fromthe moment when the person takes a bite of pastry cream pie. b) Congenital lactase deficiency is a type of lactose intolerance that occursin infants. It is inherited in an autosomal recessive pattern. Calculate thechance of congenital lactose intolerance in a child whose parents are both carriersfor the disorder, showing fully how you reached your answer.arrow_forward
- 13arrow_forwardReview the process of autosomal recessive inheritance by coloring the following figures in this instance both parents are carriers of a treat to illustrate the transmission of the disorder from the parents to the children color the figures as describedarrow_forwardGenetic Inheritance Patterms Retinitis pigmnentosa (RP) can be autosomal recessive, autosomal dominant, or x-linked. Apparently the dominant forms are often less severe. Eric's form of RP is Usher's Syndrome, which is an autosomal recessive inheritance (i.e., you must get a copy of the defective gene from your Mom and one from your Dad). Autosomal means it is not carried on one of the chromosomes that determines sex. Usher's Type II is recessive, so for Eric this means that both his Mom and Dad are carriers of this condition. His brother, Dirk, does not have any symptoms of RP. Question below - short answer approach Imagine you are a genetics counselor, and Dirk, Erik's brother, comes in to see you. Based on his parents, what are Dirk's possible genotypes for RP? What advice would you give Dirk about the chances of Dirk's children having retinitis pigmentosa if his wife is not a carrier? How would your advice change if his wife fully has the disease? Describe all the possibilities,…arrow_forward
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