PEDIGREE ANALYSIS— please answer all of them, they are all connected 1. Pedigree Symbology. Considered the colored symbols as affected by a hereditary disease orpositive with genetic disease.12II23456.7IITO12 34 5 678 9 10IV1 2 34 5 6a. What is the gender of II-4?b. Is II-9 affected by the hereditary disease?c. What is the gender and genetic disease status of IV-5?d. What is the gender and genetic disease status of Il-6?

Pedigree is a family chart showing the inheritance of a particular trait through several generations…

1. Pedigree Symbology. Considered the colored symbols as affected by a hereditary disease or positive with genetic disease. 1 2 II 1 2 3 4 5 6. 7 II TO 2 3 4 5 6 8 9 10 IV 1 2 3 4 5 6 a. What is the gender of II-4? b. Is II-9 affected by the hereditary disease? c. What is the gender and genetic disease status of IV-5? d. What is the gender and genetic disease status of Il-6?

1. Pedigree Symbology. Considered the colored symbols as affected by a hereditary disease or positive with genetic disease. 1 2 II 1 2 3 4 5 6. 7 II TO 2 3 4 5 6 8 9 10 IV 1 2 3 4 5 6 a. What is the gender of II-4? b. Is II-9 affected by the hereditary disease? c. What is the gender and genetic disease status of IV-5? d. What is the gender and genetic disease status of Il-6?

Biology (MindTap Course List)

11th Edition

ISBN:9781337392938

Author:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Publisher:Eldra Solomon, Charles Martin, Diana W. Martin, Linda R. Berg

Chapter16: Human Genetics And The Human Genome

Section16.3: Genetic Diseases Caused By Single-gene Mutations

Problem 7LO: State whether each of the following genetic defects is inherited as an autosomal recessive,...

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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?
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 if the couple wanted prenatal testing so that a normal fetus could be aborted?
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?
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?
1. Study the given alleles. Write the correct phenotype for each genotype. X – normal Gen otype xC - Color-blind Phenotype XX XY XXC xCY 2. Study the given alleles. Write the correct genotype for each phenotype. xH - Hemophiliac Phenotype X- normal Gen otype Hemophiliac female Hemophiliac male Normal female carrier of the gene Normal male Normal female 28 3. Determine the genotype and phenotype of the offspring. A color-blind mother (XCx) married a normal sighted (XY) father. Genotype: Phenotype: Genotype: Phenotype: Genotype: Genotype: Phenotype: Phenotype: a. There are b. There are c. There are d. There are % normal sons. % normal daughters. % color-blind sons. % color-blind daughters. % normal female, carrier of the disorder. or or or or e. There are or
12. A. B. C. D. 9:24 A. .5G prairiestate.desire2learn.com does that prove ne is the father of the baby or the person who committed the crime? Explain your answer. Hemophilia is an x-linked disease in which the blood does not clot normally; it is sometimes called "bleeder's disease." Hemophilia is caused by a recessive allele (h). The dominant allele (H) produces blood that clots normally. What is genotype of a man who is a hemophiliac? What is the genotype of a man with normal blood clotting? What is the genotype of a woman with normal clotting blood if her father was a hemophiliac? If a man with normal clotting blood and a heterozygous woman have children together, what would you expect for the genotypes and phenotypes of the children? 13. A dominant x-linked allele (B) gives normal color vision but the recessive allele (b) causes red-green color blindness. What is the genotype of a man with normal color vision whose father was color- blind?
II. Write TRUE if the statement is correct and FALSE if otherwise. -7. A temale parent possessing an X-linked dominant mutation is considered a carrier and will not manifest clinical symptoms of the disorder. _8. Y-linked traits are passed from the father to son, without the occurrence of genetic recombination. 9. Somatic mosaicism results to abnormalities based on the amount and distribution of normal cells while gonadal mosaicism affects the germline tissues leading to a new dominant mutation. 10. A test cross is done to determine which allele is dominant and which is recessive.
1. Study the given alleles. Write the correct phenotype for each genotype. X– normal Genotype XC – Color-blind Phenotype XX XY XCXC www m XX www w ww w 2. Study the given alleles. Write the correct genotype for each phenotype. X- normal Genotype хн- Hemophiliaс Phenotype Hemophiliac female Hemophiliac male Normal female carrier of the gene Normal male Normal female
Explain the following1. A couple comes to a genetic councilor concerned about their chances of having a baby with cystic fibrosis disease. The husband had a sibling die of the disease. What are the chances that he is a carrier?
3. D. A. B. C. 10. Familial hypercholesterolemia is the most common genetic cause of heart disease. It is caused by a dominant factor (C). The recessive factor (c) produces a protein that processes cholesterol normally and leads to a normal risk for heart disease. Answer the following questions about the inheritance of this disease. What is the phenotype of a woman whose genotype is Cc? What is the genotype of a man who has hypercholesterolemia but whose mother did not have the disease? If a man who is heterozygous for the disease marries a woman who is heterozygous for the disease, what is the chance that any child of theirs will inherit the disease? If a man who is homozygous dominant marries a woman who is homozygous recessive, what would you predict for the the genotypes and phenotypes of their children? If the first 2 children from the marriage described in D above have the disease, what is the chance that a third child would be normal? Explain your answer. 41