Essentials Of Genetics (9th Global Edition)
9th Edition
ISBN: 9780134143637
Author: William S. Klug, Michael R. Cummings
Publisher: Pearson Global Edition
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Chapter 4, Problem 3CS
CASE STUDY | But he isn't deaf
Researching their family histories, a deaf couple learns that each of them has relatives through several generations who are deaf. With a rudimentary understanding of genetics, they also learn that one of many forms of deafness can be inherited as an autosomal recessive trait. They plan to have children, and based on the above information, they are concerned that some or all of their children may be deaf. To their delight, their first child has normalhearing. The couple turns to you as a geneticist to help explain this situation.
What conclusions could be drawn if their first child had been deaf?
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help with genetics part 9
A young lady requested pre-marital genetic counselling because her sister had died in infancy of gangliosidosis, an autosomal recessive disease. What is the risk that this young lady has similarly affected offspring? What advice should be given?
Genetic 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,…
Chapter 4 Solutions
Essentials Of Genetics (9th Global Edition)
Ch. 4 - CASE STUDY | But he isn't deaf Researching their...Ch. 4 -
CASE STUDY | But he isn’t deaf
Researching...Ch. 4 - CASE STUDY | But he isn't deaf Researching their...Ch. 4 - HOW DO WE KNOW? In this chapter, we focused on...Ch. 4 - Review the Chapter Concepts list on page 53. These...Ch. 4 - In Shorthorn cattle, coat color may be red, white,...Ch. 4 -
4. With regard to the ABO blood types in humans,...Ch. 4 - In foxes, two alleles of a single gene, P and p,...Ch. 4 - Three gene pairs located on separate autosomes...Ch. 4 - As in the plants of Problem 6, color may be red,...
Ch. 4 -
8. The following genotypes of two independently...Ch. 4 - Given the inheritance pattern of coat color in...Ch. 4 - A husband and wife have normal vision, although...Ch. 4 - In humans, the ABO blood type is under the control...Ch. 4 - In goals, development of the beard is due to a...Ch. 4 -
13. In cats, orange coal color is determined by...Ch. 4 - In Drosophila, an X-linked recessive mutation,...Ch. 4 - Another recessive mutation in Drosophila, ebony...Ch. 4 - While vermilion is X-linked in Drosophila and...Ch. 4 - In pigs, coat color may be sandy, red, or white. A...Ch. 4 - A geneticist from an alien planet that prohibits...Ch. 4 - In another cross, the frog geneticist from Problem...Ch. 4 - In cattle, coats may be solid white, solid black,...Ch. 4 - Consider the following three pedigrees, all...Ch. 4 - Labrador retrievers may be black, brown, or golden...Ch. 4 - Three autosomal recessive mutations in Drosophila,...Ch. 4 -
24. Horses can be cremello (a light cream...Ch. 4 - Pigment in the mouse is produced only when the C...Ch. 4 - Five human matings numbered 1–5 are shown in the...Ch. 4 - Two mothers give birth to sons at the same time at...Ch. 4 - In Dexter and Kerry cattle, animals may be polled...Ch. 4 - What genetic criteria distinguish a case of...Ch. 4 -
30. The specification of the anterior-posterior...Ch. 4 - The maternal-effect mutation bicoid(bcd)is...Ch. 4 -
32. Students taking a genetics exam were...Ch. 4 - In four o'clock plants, many flower colors are...Ch. 4 - Prob. 34PDQ
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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?arrow_forwardA 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?arrow_forwardAnalysis of X-Linked Dominant and Recessive Traits As a genetic counselor investigating a genetic disorder in a family, you are able to collect a four-generation pedigree that details the inheritance of the disorder in question. Analyze the information in the pedigree to determine whether the trait is inherited as: a. autosomal dominant b. autosomal recessive c. X-linked dominant d. X-linked recessive e. Y-linkedarrow_forward
- Leaharrow_forwardPlease draw it out so I understand how it's suppose to be drawnarrow_forwardLet us practice it again! Analyze the pedigree below to answer the questions that follow. Huntington's disease a disorder in which nerve cells waste away, or disintegrate, is passed down through families. certain parts of the brain Huntington's diseate llustration ereated in htps://pregenygenetion.com/ 1. What members of the family above are affected with the Huntington's disease? 2. Tnere are no carriers ior Huntungton's disease you either have it or you do not. Is Huntington's disease caused-by a dominant or recessive trait? 3. Identify the genotypes of the following individuals using the pedigree above. (homozygous dominant, homozygous recessive, heterozygous). I- 1 II -1: II -3: III - 4 : 4. How many children did individuals I-1 and I-2 have? 5. How many girls did II-1 and II-2 have? How many have Huntington's Disease? 6. How are individuals III-2 and II-4 related? I-2 and III-5?arrow_forward
- re ||| E 6. Label the genotypes for this pedigree of an X-linked recessive disorder (red- green colorblindness). (a) 2 2 3 1 3 a. How do you know? b. Label the genotypes. 4 O To 2 4 5 5 6 6 7. Is the following pedigree autosomal recessive, autosomal dominant or X-linked recessive? 2 8 O T 58arrow_forwardIs this disease autosomal or sex-linked, and dominant or recessive? Using your genetics understanding of patterns of inheritance and as a scientist, how would you interpret these results?arrow_forwardTell me whether it is autosomal reccessive inheritance,autosomal domiant inheritance,sex-linked reccessive inheritance, sex-linked dominay inheritance or y-linked inheritance.arrow_forward
- Aav AaBbCc Normal No Spacing Heading 1 Paragraph Styles In man, two abnormal conditions, cataracts (C) in the eyes and excessive fragility (F) in the bones, seem to depend on separate dominant genes located on different chromosomes. Normal vision and normal bones are recessive traits. A man with cataracts and nomal bones, whose father had normal eyes, married a woman free from cataracts but with fragile bones. Her father had normal bones. 11. What is the genotype of the man with cataracts and nomal bones? What is the genotype of the woman with normal vision and fragile bones? What type of offspring might this couple expect? Genotypes Phenotypes What is the probability that their first child will, (a) be free from both abnormalities (b) have cataracts but not fragile bones (c) have fragile bones but not cataracts (d) have both cataracts and fragile bones? liliarrow_forwardGenetic Inheritance Patterms 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 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. Draw a pedigree of Eric's family showing possible genotypes and chances of having RP. Your pedigree must include his parents, Eric, his brother Dirk, and a potential daughter of Eric's. Draws a pedigree that shows the correct genotypes and chances of having retinitis pigmentosa for Eric and his family. D.Focus (United States) a S W 37 F 八 口arrow_forwardConstruct an imaginary pedigree that represents the inheritance pattern of Groats Disease (not a real disorder) Imagine a family tree detailing the inheritance pattern of Groats Disease (not a real disorder), a condition we'll say follows an autosomal recessive pattern. (It must follow an autosomal recessive pattern). • • In this pedigree include 5 generations, 25 individuals, and 5 affected individuals. Proper Pedigree Notation (circles, squares, shading, etc.) Names, ages, and genotypes for all represented individuals (listed beside or under the representative symbol).arrow_forward
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