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?

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?

Name: 3) You have sought a job at a human genetic counseling clinic. They g
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Description: 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 NOCould this trait be inherited as a simple autosomal

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?
Please consider the following pedigree. Assume that people who marry in to the family do not carry the allele unless otherwise indicated. Assume complete penetrance. I II 5 6 III 6 IV 1 2 a. Is it possible for the inheritance pattern for the trait illustrated in this pedigree to be as a result of each of the following? Answer yes or no. (i) an autosomal recessive allele (AR) (ii) an autosomal dominant allele (AD) (iii) a X-linked recessive allele (XR) (iv) a X-linked dominant allele (XD) b. Provide a genotype for individual III-6 for the most likely mode of inheritance as determined in (a).
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?
In the following pedigree, is the disorder’s mode of inheritanceautosomal dominant, autosomal recessive, or X-linked recessive?Explain your reasoning.
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?
The following pedigree illustrates the inheritance of Nance–Horan syndrome, a rare genetic condition in which affected people have cataracts and abnormally shaped teeth.
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
There are several possible modes of inheritance through which traits can be inherited. The following pedigree charts represent four different inheritance patterns. Match each type of inheritance with the correct pedigree numbered above. (Use each number only once.)X-linked recessive X-linked dominant Autosomal recessive Autosomal dominant
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?
7) The pedigree below traces the inheritance of alkaptonuria, a biochemical disorder. Does alkaptonuria appear to be caused by a dominant or recessive allele? Is this allele autosomal or sex- linked? Determine the probable genotypes for all the individuals in this pedigree. Sandra Daniel George Tom Sam Wilma Ann Alan Tina Arlene Christopher Carla Michael