|| AB ||| AA 1 0₂ AA AB 2 BB 0₁ In this pedigree A and B represent alleles at a marker locus very closely linked to the disease locus. Affected individuals are shown as shaded. The disease status in III 1 (a female of 10 years) is unknown as yet as the disease does not onset until teenage years or soon after. Which of the following is correct? OA. The probable pattern of inheritance shown by the disease in this family is autosomal recessive. OB. If recombination does not occur the probability that III 1 will be affected if she has an AB marker genotype is 1. OC. If recombination does not occur, the probability that III 1 will be affected if she has a BB marker genotype is 1. OD. If the recombination fraction between the disease and marker loci equals 0.04, the probability that III 1 will be affected if she inherits an AB marker genotype equals 0.96. OE. The probable pattern of inheritance shown by the disease in this family is X-linked recessive.

|| AB ||| AA 1 0₂ AA AB 2 BB 0₁ In this pedigree A and B represent alleles at a marker locus very closely linked to the disease locus. Affected individuals are shown as shaded. The disease status in III 1 (a female of 10 years) is unknown as yet as the disease does not onset until teenage years or soon after. Which of the following is correct? OA. The probable pattern of inheritance shown by the disease in this family is autosomal recessive. OB. If recombination does not occur the probability that III 1 will be affected if she has an AB marker genotype is 1. OC. If recombination does not occur, the probability that III 1 will be affected if she has a BB marker genotype is 1. OD. If the recombination fraction between the disease and marker loci equals 0.04, the probability that III 1 will be affected if she inherits an AB marker genotype equals 0.96. OE. The probable pattern of inheritance shown by the disease in this family is X-linked recessive.

Name: ||AB|||1AA0₂AA0₁In this pedigree A and B represent alleles at a marke
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Description: ||AB|||1AA0₂AA0₁In this pedigree A and B represent alleles at a marker locus very closely linked to the disease locus. Affected individuals are shown asshaded. The disease status in III 1 (a female of 10 years) is unknown as yet as the disease does

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. 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?
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?
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?
The following pedigree shows the inheritance of a human disorder. Affected individuals are shown with filled symbols. II III 2 3 5 Based on the pedigree, propose the least likely inheritance pattern of the disease among autosomal dominance, autosomal recessive, X-linked dominance and X-linked recessive. Your choice of answer can be impossible and possible. Explain your answer by giving the evidence that supports or opposes each mode of inheritance. You can reconstruct the table shown below and draw the pedigree in your answer script. Write the possible genotype of each individual in the pedigree for each inheritance pattern proposed. Mode of Possibility Explanations Pedigree inheritance Autosomal dominance Autosomal recessive X-linked dominance X-linked recessive
In this case a family history revealed a genetic basis for the disorder. The pedigree is shown in Fig. 1 Below. Key Ø Female: affected Female: unaffected || IV V 5600 orize 077808 15 10 9 10 CHO વ Male: affected Male: unaffected Deceased Disease status not given Dizygotic twins Monozygotic twins Fig. 1 Disease pedigree. Five generations I, II, III, IV, V are shown. Females are represented by circles, males by squares, dizygotic (non-identical) twins by diagonal lines originating from the same point, Monozygotic (identical) twins by diagonal lines originating from the same point and joined symbols and deceased by a diagonal line through the symbol. Filled symbols indicate that the individual displays the disease phenotype. Unfilled symbols indicate that the individual does not display the disease phenotype. Carriers of the disease are not indicated. Information on disease status is not known for generation I and is omitted for the individuals represented by a symbol with an asterisk.…
There are six types of agglutinogen named C,D, E and c,d,e.the first three are dominant and last three are recessive.discuss
In 1995, doctors reported a Chinese family in whichretinitis pigmentosa (progressive degeneration of theretina leading to blindness) affected only males. Allsix sons of affected males were affected, but all of thefive daughters of affected males (and all of thechildren of these daughters) were unaffected.a. What is the likelihood that this form of retinitispigmentosa is due to an autosomal mutationshowing complete dominance?b. What other possibilities could explain the inheritance of retinitis pigmentosa in this family? Whichof these possibilities do you think is most likely?
While sitting at home during Movement Control Order (MCO) because of pandemic covid19, observe two different traits of a couple in your family (eg. your mom & dad or your sister & her husband or your brother & his wife, etc). Draw a genetic cross that involves cross of the parents with the chosen 2 pairs of their contracting traits. Imagine that the cross obeys the Mendelian Laws, show the cross and gametes production for each generation (P, F1 and F2). By Using a Punnet square as symbolic representation of the results for the cross, determine the phenotypes, genotypes, phenotypic ratio and genotypic ratio of F2 generation in the family.
Construct pedigree charts using the inheritance of hemophilia in figure 92 (page 113). This is X-linked inheritance so you are required to label XX for females and XY for males. The gene responsible for the trait is represented by the superscript which should be specified in the legend.
In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor the recessive gene. Two normal parents had a daughter with thesymptoms of this disease, and a normal son who marries a normal womanwith an afflicted A test (salt concentration in perspiration of heterozygotes ishigher than normal) disclosed that both are indeed carriers of the gene. If thefirst child born to the mating in (b) was defective, what is the probability thatthe 2nd child would also be defective?Express answer in fraction form
Congenital hypertrichosis (CH) is a very rare X-linked dominant inherited condition. CH is characterized by the growth of dark hair over the body. CH is so rare, only 50 cases have been identified since the Middle Ages. The incidence of this condition is considerably higher in a small Mexican village (from which the partial pedigree below is derived) than the rest of the human population. I II III Use the following information to answer the two questions. IV D II-4 8 9 IV-6 0=10~ 11 1. Using appropriate nomenclature, identify the genotypes for the following 2 individuals: 12 13 your response must include an appropriate legend/key to identify allele symbols. 2. Show how a Punnett square (using the allele symbols from the previous question) is used to determine the probability in percent of individuals III-11 and III-12 next offspring has CH?