A young couple went to see a genetic counselor because each had a sibling with cystic fibrosis. (Cystic fibrosis is a recessive disease, and neither member of the couple nor any of their four parents is affected.) What is the probability that the female of this couple is a carrier? What are the chances that their child will have cystic fibrosis? 3. What is the probability that their child will be a carrier of the cystic fibrosis disease allele?

A young couple went to see a genetic counselor because each had a sibling with cystic fibrosis. (Cystic fibrosis is a recessive disease, and neither member of the couple nor any of their four parents is affected.) What is the probability that the female of this couple is a carrier? What are the chances that their child will have cystic fibrosis? 3. What is the probability that their child will be a carrier of the cystic fibrosis disease allele?

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Description: A young couple went to see a genetic counselor because each had a sibling with cystic fibrosis. (Cystic fibrosis is a recessive disease, and neither member of the couple nor any of their four parents is affected.)What is the probability that the fema

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter10: From Proteins To Phenotypes

Section: Chapter Questions

Problem 3CS: A couple was referred for genetic counseling because they wanted to know the chances of having a...

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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. 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?
A young couple went to see a genetic counselor because each had a sibling with cystic fibrosis. (Cysticfibrosis is a recessive disease, and neither member ofthe couple nor any of their four parents is affected.)a. What is the probability that the female of thiscouple is a carrier?b. What are the chances that their child will havecystic fibrosis?c. What is the probability that their child will be acarrier of the cystic fibrosis disease allele?
Cystic Fibrosis (CF) is an autosomal recessive condition. Therefore, heterozygous (Cc) carriers do not display symptoms. Two parents who are carriers plan to start a family and you are a genetic counselor helping to advise them about their chances of having children affected by CF. a) Suppose the couple has 4 children, each one year apart. What is the probability that all 4 children will inherit CF? b) What is the probability that any 3 of their 4 children will not inherit CF, but 1 will be affected? c) What is the probability that their first child will not inherit CF, but the younger 3 children will inherit CF?
A young couple went to see a genetic counselor because each had a sibling affected with cystic fibrosis. (Cystic fibrosis is a recessive disease, and neither member of the couple nor any of their four parents is affected.) a. What is the probability that the female of this couple is a carrier? b. What are the chances that their child will be affected with cystic fibrosis? c. What is the probability that their child will be a carrier of the cystic fibrosis mutation?
A young couple went to see a genetic counselor because each had a sibling affected with cystic fibrosis. (Cystic fibrosis is a recessive disease and neither member of the couple nor any of their four parents is affected). What is the probability that the female of this couple is a carrier and what are the chances that their child will be affected with cystic fibrosis?
Two parents one heterozygous normal (Aa) and other is homozygous recessive albino (aa) 1.what is the percentage that their offspring will be normal? 2 .what is the percentage that their offspring will inherit albinism?
3. STATEMENT: Color-blindness is due to a sex-linked recessive gene. A colorblind man marries a normal-visioned woman and they have a colorblind daughter. a) What is the genotype for the man, woman and the daughter? b) The couple decides to have another child, what is the probability their child will be: i. Colorblind? ii. Have a daughter that has normal vision, no colorblindness? They know that they're having a son because they saw the sonogram with a little noticeable Schmeckle (Oscar Meyer weiner). iii.
17-19. A man and women of normal phenotype have a son with Duchenne muscular dystrophy, a sex-linked recessive disorder. They are planning to have another child and you ask for genetic counseling for the following: A. What is the likelihood that another child will have this disease if it is a boy?___ B. What is the likelihood that another child will have the disease if it is a girl? C. What is the overall chance of any child in their family getting the disease? OA= 1/4 or 25%, B = 0%, C = 3/4 or 75% A = 1/2 or 50%, B = 1/2 or 50%, C = 1/4 or 25% OA = 1/2 or 50%, B = 0%, C = 1/4 or 25% A = 0%, B = 0%, C = 1/4 or 25%
Consider the following pedigree. 하 3 10 (5 3 2 (a) What pattern of transmission is most consistent with this pedigree? (1) autosomal recessive, (2) autosomal dominant, (3) X-linked recessive, (4) X-linked dominant. (b) If individual V-2 marries a normal individual, and if the condition has a pene-trance of 85 percent, what is the probability that their second child will express the trait? (c) On the third line, what does the diamond with a 10 in the middle mean?
3. Pattern baldness is a recessive sex-linked trait. Jake has a full head of hair. His wife Jeannie is heterozygous for the pattern baldness gene. A) What is Jeannie's phenotype? Why? B) What are the chances that their children will have pattern baldness?
At her first prenatal visit, a woman relates that her maternal aunt has cystic fibrosis, an autosomal recessive illness. Which of the following statements is appropriate for the nurse to make? a. It is unnecessary for you to worry since our aunt is not a direct relation." b. "We can check to see whether or not you are a carrier for cystic fibrosis." c. "You should have an amniocentesis to see whether or not your child has the disease." d. Please ask your mother whether she has ever had any symptoms of cystic fibrosis