The pedigree below follows the appearance of a rare autosomal dominant condition resulting in malformation of limbs through a family. What is the penetrance of this trait? i.e., What is the ratio between the number of individuals in the pedigree who display the trait (numerator) and the number of individuals you know from the pedigree must have the trait-determining genotype (denominator)? Enter your answer in the form of a fraction without any spaces. e.g., If your answer is “one-fourth”, enter: 1/4

The pedigree below follows the appearance of a rare autosomal dominant condition resulting in malformation of limbs through a family. What is the penetrance of this trait? i.e., What is the ratio between the number of individuals in the pedigree who display the trait (numerator) and the number of individuals you know from the pedigree must have the trait-determining genotype (denominator)? Enter your answer in the form of a fraction without any spaces. e.g., If your answer is “one-fourth”, enter: 1/4

Name: QUESTION 5. The pedigree below follows the appearance of a rare autos
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Description: QUESTION 5. The pedigree below follows the appearance of a rare autosomal dominant condition resulting in malformation of limbs through a family. What is the penetrance of this trait? i.e., What is the ratio between the number of individuals in the

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

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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?
Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?
QUESTION 8 Consider the following pedigree. With no other information provided, what is the most likely mode of transmission (or mode of inheritance) of the allele for the unusual trait? sex-linked recessive autosomal recessive autosomal dominant sex-linked dominant
QUESTION 22 Consider whether the mode of inheritance for each of the pedigrees below is autosomal dominant or autosomal recessive Pedigree I Both pedigrees show autosomal dominant modes of inheritance Pedigree I is autosomal dominant while pedigree II is autosomal recessive O Pedigree I is autosomal recessive while pedigree II is autosomal dominant O Both pedigrees show autosomal recessive modes of inheritance QUESTION 23 A Pedigree II The pedigree below shows the inheritance of an X-linked recessive disorder. B TH Quers
3) You have sought a job at a human genetic counseling clinic. They gave you an aptitude test shown below. Answer the yes/no questions concerning each of the following pedigrees. Pedigree A: YES or NO Could this trait be inherited as a simple autosomal recessive? Could this trait be inherited as a simple autosomal dominant? Could this trait be inherited as a simple X-linked recessive? Could this trait be inherited as a simple X-linked dominant? Pedigree B: YES or NO Could this trait be inherited as a simple autosomal recessive? Could this trait be inherited as a simple autosomal dominant? Could this trait be inherited as a simple X-linked recessive? Could this trait be inherited as a simple X-linked dominant?
The next four questions are all related to this problem: Polydactyly (PD) is an autosomal dominant trait (polydactyly - P; wildtype - p). Cystic fibrosis (CF) is an autosomal recessive trait (cystic fibrosis - f; wildtype - F). A PD woman, otherwise normal in phenotype, marries a healthy normal man. Their 4 children are: 1) normal, 2) PD, 3) CF, 4) CF + PD. You will walk through a series of steps to answer this question: What is the probability that their 5th child will have at least one of these conditions? Here is the first step: 1. What is the cross? (Hint: You can use the 4 existing children to determine the genotypes of the parents.) O PpFF (female) x ppFF (male) O PoFf (female) x ppft (male) O pof female) x PPFI (male) O PPFF Ifemale) x ppFf (male) 2. What is/are the target genotypes? O pof OP.F. O pott O P.M 3. What is the probability the child will have PD AND cystic fibrosis? Answer to two decimal places (eg. 0.88). 4. What is the probability that their 5th child will have at…
As attached, is a pedigree related question. I have a question, is it correct that individual I 1 's phenotype is Ff (heterozygous) whereas individual I 2 is ff (recessive homozygous)? That would mean that the ratio of Widow's Peak: Straight hair(no widow's peak) would be 1:1 ? So the chances of getting a Widow's Peak is 50% ? Is this correct? Am I doing it right.
152 Phenylketonuria (PKU) is a disorder caused by a recessive allele. Two carrier individuals have progeny. Answer the following questions in order and show solutions whenever relevant. If they have a normal child, what is the probability that he or she will be heterozygous? If they have three children, what is the probability of having 2 affected children and one normal child?
The next four questions are all related to this problem: Polydactyly (PD) is an autosomal dominant trait (polydactyly = P; wildtype = p). Cystic fibrosis (CF) is an autosomal recessive trait (cystic fibrosis = f; wildtype = F). A PD woman, otherwise normal in phenotype, marries a healthy normal man. Their 4 children are: 1) normal, 2) PD, 3) CF, 4) CF + PD. You will walk through a series of steps to answer this question: What is the probability that their 5th child will have at least one of these conditions? Here is the first step: 1. What is the cross? (Hint: You can use the 4 existing children to determine the genotypes of the parents.) PFF (female) x ppFF (male) PpFf (female) x ppFf (male) O ppff (female) x PPFF (male) O PPFF (female) x ppFf (male)
The next four questions are all related to this problem: Polydactyly (PD) is an autosomal dominant trait (polydactyly - P; wildtype - pl. Cystic fibrosis (CF) is an autosomal recessive trait (cystic fibrosis - f; wildtype - F). A PD woman, otherwise normal in phenotype, marries a healthy normal man. Their 4 children are: 1) normal, 2) PD, 3) CF, 4) CF + PD. You will walk through a series of steps to answer this question: What is the probability that their Sth child will have at least one of these conditions? Here is the first step: 1. What is the cross? (Hint: You can use the 4 existing children to determine the genotypes of the parents.) O PpFF (female) x ppFF (male) O Ppff (female) x pFf (male) O ppft (female) x PPFH (male) O PPF female) x ppFf (male) 2. What is/are the target genotypes? O pof. OP.F. O pptt OP.M 3. What is the probability the child will have PD AND cystic fibrosis? Answer to two decimal places (e.g. 0.88). 4. What is the probability that their 5th child will have at…
QUESTION 10 Consider the following pedigree. With no other information provided, what is the most likely mode of transmission (or mode of inheritance) of the allele for the unusual trait? autosomal dominant sex-linked recessive autosomal recessive O sex-linked dominant