2 II 4 5 6. (7) II 8. 9 10 11 12 1314 IV 15 16 17 18 (19 20 The pedigree above traces sickle cell disease through four generations of a family. Sickle cell disease is an autosomal recessive trait. Note that carriers are not marked in this pedigree. Which of the following describes the genotype of individual 18? impossible to telI O O homozygous recessive O heterozygous O homozygous dominant

2 II 4 5 6. (7) II 8. 9 10 11 12 1314 IV 15 16 17 18 (19 20 The pedigree above traces sickle cell disease through four generations of a family. Sickle cell disease is an autosomal recessive trait. Note that carriers are not marked in this pedigree. Which of the following describes the genotype of individual 18? impossible to telI O O homozygous recessive O heterozygous O homozygous dominant

BIOLOGY:CONCEPTS+APPL.(LOOSELEAF)

10th Edition

ISBN:9781305967359

Author:STARR

Publisher:STARR

Chapter14: Human Inheritance

Section: Chapter Questions

Problem 4GP: An allele responsible for Marfan syndrome Section 13.4 is inherited in an autosomal dominant...

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A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. Should the parents be concerned about the heterozygous condition as well as the homozygous mutant condition?
A couple was referred for genetic counseling because they wanted to know the chances of having a child with dwarfism. Both the man and the woman had achondroplasia (MIM 100800), the most common form of short-limbed dwarfism. The couple knew that this condition is inherited as an autosomal dominant trait, but they were unsure what kind of physical manifestations a child would have if it inherited both mutant alleles. They were each heterozygous for the FGFR3 (MIM 134934) allele that causes achondroplasia. Normally, the protein encoded by this gene interacts with growth factors outside the cell and receives signals that control growth and development. In achrodroplasia, a mutation alters the activity of the receptor, resulting in a characteristic form of dwarfism. Because both the normal and mutant forms of the FGFR3 protein act before birth, no treatment for achrondroplasia is available. The parents each carry one normal allele and one mutant allele of FGRF3, and they wanted information on their chances of having a homozygous child. The counsellor briefly reviewed the phenotypic features of individuals with achondroplasia. These include facial features (large head with prominent forehead; small, flat nasal bridge; and prominent jaw), very short stature, and shortening of the arms and legs. Physical examination and skeletal X-ray films are used to diagnose this condition. Final adult height is approximately 4 feet. Because achondroplasia is an autosomal dominant condition, a heterozygote has a 1-in-2, or 50%, chance of passing this trait to his or her offspring. However, about 75% of those with achondroplasia have parents of average size who do not carry the mutant allele. In these cases, achondroplasia is due to a new mutation. In the couple being counseled, each individual is heterozygous, and they are at risk for having a homozygous child with two copies of the mutated gene. Infants with homozygous achondroplasia are either stillborn or die shortly after birth. The counselor recommended prenatal diagnosis via ultrasounds at various stages of development. In addition, a DNA test is available to detect the homozygous condition prenatally. What is the chance that this couple will have a child with two copies of the dominant mutant gene? What is the chance that the child will have normal height?
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?
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. Is colon cancer treatable? What are the common treatments, and how effective are they?
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. 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?
Achondroplasia 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?
An allele responsible for Marfan syndrome Section 13.4 is inherited in an autosomal dominant pattern. What is the chance that a child will inherit the allele if one parent does not carry it and the other is heterozygous?
AaBbCcDc AaBbCcD Ac Heading 1 Heading 2 Title Subtitle Subtle Em.. Emphasis Intense E... Strong Quote Int Paragraph Styles 4 Genetic Inheritance Patterns Retinitis pigmentosa (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 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. gene from your Mom and one from your Dad). Autosomal means it is not Question below short answer approach image you are the genetics counselor, should Eric have children? Imagine he has a daughter (he has two, but both are adopted). What advice would you give Eric if his wife was a carrier from a genetics counseling viewpoint? Describe all the possibilities,…
the offspring ès) can often be autosomal I 1.1 III ad amalg od no IV 9 OTO 5 0000 anivellor and goje If individual 2 were to marry a woman with no family history of the disease, which of the following would most likely be true of their children? a. All of the children would have the disease. b. None of the children would have the disease. c. Only the sons would have the disease. d. All of the sons would be carriers of the disease. e. None of the daughters would be carriers of the disease.
Could the characteristic followed in the pedigree be caused by an autosomal dominant disease? Why or why not? 3 4. O No, the offspring of 1-3 and I-4 contradict an autosomal dominant inheritance O No. the offspring of 1-1 and I-2 contradict an autosomal dominant inheritance O Yes, all individuals fit the autosomal dominant inheritance pattern ONo, the offspring of II-3 and -4 contradict an autosomal dominant inheritance
zto.mheducation.com/ext/map/index.html?_con%=con&external_browser=0&launchUrl=https%253A%252F%252Flms.mheducation.com%252Fmghmiddleware? er 10 Assignment Saved Classify the following conditions based on whether they are describing autosomal dominance, autosomal recessive, or both. Autosomal Dominant Affected children can have unaffected pped parents Book Print Heterozygotes are affected erences Autosomal Recessive Heterozygotes have a normal phenotype Both males and females are affected with equal frequency Both Affected children have at least one affected parent 080 acer -> %24 % 2. 6.
Please consider the following pedigree. Assume that people who marry in to the family do not carry the allele unless otherwise indicated. Assume complete penetrance. I II 5 6 III 6 IV 1 2 a. Is it possible for the inheritance pattern for the trait illustrated in this pedigree to be as a result of each of the following? Answer yes or no. (i) an autosomal recessive allele (AR) (ii) an autosomal dominant allele (AD) (iii) a X-linked recessive allele (XR) (iv) a X-linked dominant allele (XD) b. Provide a genotype for individual III-6 for the most likely mode of inheritance as determined in (a).