Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 4, Problem 18QP
Analysis of Autosomal Recessive and Dominant Traits
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Amelogenesis imperfecta (AI) is a disorder of faulty tooth enamel formation. It is inherited in an autosomal dominant and X-linked dominant pattern. The expression of AI disorder is determined by mutations in the autosomal alleles. One copy of the mutated allele (A) will cause the disorder. The severity of the disorder is determined by mutations in a gene carried on the X chromosome. Normal (or non-severe) abnormality (XN) is dominant over the abnormality (or severe) (Xn) allele. In the absence of the autosomal dominant allele, the abnormality gene on the X chromosome is notexpressed. Question:A woman with normal teeth had four children with a man with non-severe form of AI:
A boy was born without amelogenesis imperfecta
A girl was born without amelogenesis imperfecta
A boy was born with severe amelogenesis imperfecta
A boy was born with non severe amelogenesis imperfecta
Identify the parental genotypes.
Complete the Punnett square for the parental cross, and identify the possible…
Amelogenesis imperfecta (AI) is a disorder of faulty tooth enamel formation. It is inherited in an autosomal dominant and X-linked dominant pattern. The expression of AI disorder is determined by mutations in the autosomal alleles. One copy of the mutated allele (A) will cause the disorder. The severity of the disorder is determined by mutations in a gene carried on the X chromosome. Normal (or non-severe) abnormality (XN) is dominant over the abnormality (or severe) (Xn) allele. In the absence of the autosomal dominant allele, the abnormality gene on the X chromosome is not expressed. Question:A woman with normal teeth had four children with a man with non-severe form of AI:
A boy was born without amelogenesis imperfecta
A girl was born without amelogenesis imperfecta
A boy was born with severe amelogenesis imperfecta
A boy was born with non severe amelogenesis imperfecta
Identify the parental genotypes.
Complete the Punnett square for the parental cross, and identify the…
Achondroplasia is an autosomal dominant disorder characterized by disproportionate short stature: the legs and arms of people with achondroplasia are short compared with the head and trunk. The disorder is due to a base substitution in the gene, located on the short arm of chromosome 4, that encodes fibroblast growth factor receptor 3 (FGFR3). Although achondroplasia is clearly inherited as an autosomal dominant trait, more than 80% of the people who have achondroplasia are born to parents with normal stature. This high percentage indicates that most cases are caused by newly arising mutations; these cases (not inherited from an affected parent) are referred to as sporadic. Studies have demonstrated that sporadic cases of achondroplasia are almost always caused by mutations inherited from the father (paternal mutations). In addition, the occurrence of achondroplasia is higher among the children of older fathers; approximately 50% of children with achondroplasia are born to fathers…
Chapter 4 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 4.3 - Does a pedigree drawn from the available...Ch. 4.3 - Prob. 2EGCh. 4.7 - Did the fact that Prince Albert and Queen Victoria...Ch. 4.7 - Which members of the pedigree could have been...Ch. 4 - Pedigree analysis is a fundamental tool for...Ch. 4 - Pedigree analysis is a fundamental tool for...Ch. 4 - Pedigree analysis is a fundamental tool for...Ch. 4 - Pedigree Analysis Is a Basic Method in Human...Ch. 4 - Pedigree Analysis Is a Basic Method in Human...Ch. 4 - Pedigree Analysis Is a Basic Method in Human...
Ch. 4 - Pedigree Analysis Is a Basic Method in Human...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Use the following information to respond to the...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - A proband female with an unidentified disease...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Prob. 12QPCh. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Prob. 16QPCh. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of Autosomal Recessive and Dominant...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Analysis of X-Linked Dominant and Recessive Traits...Ch. 4 - Prob. 23QPCh. 4 - Prob. 24QPCh. 4 - Variations in Phenotype Expression Define...Ch. 4 - Prob. 26QPCh. 4 - Variations in Phenotype Expression A genetic...Ch. 4 - Variations in Phenotype Expression Explain how...
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- Amelogenesis imperfecta (AI) is a disorder of faulty tooth enamel formation. It is inherited in an autosomal dominant and X-linked dominant pattern. The expression of AI disorder is determined by mutations in the autosomal alleles. One copy of the mutated allele (A) will cause the disorder. The severity of the disorder is determined by mutations in a gene carried on the X chromosome. Normal (or non-severe) abnormality (XN) is dominant over the abnormality (or severe) (Xn) allele. In the absence of the autosomal dominant allele, the abnormality gene on the X chromosome is not expressed. Question:A woman with normal teeth had four children with a man with non-severe form of AI: A boy was born without amelogenesis imperfecta A girl was born without amelogenesis imperfecta A boy was born with severe amelogenesis imperfecta A boy was born with non severe amelogenesis imperfecta Identify the parental genotypes. Complete the Punnett square for the parental cross, and identify the…arrow_forwardExplain why familial breast cancer shows a dominant pattern of inheritance in a pedigree even though it is recessive at the cellular level.arrow_forwardGive the phenotypic effects and chromosomal aberrations of the following syndromes/disorders: Down syndrome Familial down syndrome Edward syndrome Patau syndrome Cri-du-chat Drosophila Martine-Bell/Fragile X syndromearrow_forward
- TOPIC: Sex-linked inheritance Glucose-6-phosphate dehydrogenase deficiency/G6PDD (g) is an X-linked recessive condition wherein the red blood cells of affected individuals undergo premature hemolysis. Fragile X syndrome (F), on the other hand, is an X-linked dominant mutation characterized by a mild to moderate intellectual disability. Amelogenesis imperfecta (AMELY) (A) is a sex-linked congenital disorder affecting the formation of the teeth enamel making affected individuals at higher risk for dental cavities and related problems. Only male offspring inherit this condition. Jane is heterozygous for both X-linked traits like her mother. Her father is normal for both X-linked traits. James has a mother who suffers from G6PDD but not from fragile X-syndrome. His father does not exhibit any X-linked disorder but has amelogenesis imperfecta. What are the genotypes of the following: Jane: ________ James: _________ Jane’s mother: __________…arrow_forwardautosomal recessive allele (not sex-linked). Omplete the following monohybrid crosses for different types neritance pattefh autosomal dominant, sex linked recessive, and dominant inheritance. Inheritance of autosomal recessive traits Female parent phenolype: Example: Albinism Albinism (lack of pigment in hair, eyes and skin) is inherited as an Male parent phenatype: Using the codes: PP Pp (normal) (albino) la) Enter the parent phenotypes and complete the Punnett square for a cross between two carrier genotypes. A Give the ratios for the phenotypes from this cross. Pp (carrier) eggs sperm Phenotype ratios: Inheritance of autosomal dominant traits Example: Woolly hair Woolly hair is inherited as an autosomal dominant allele. Each affected individual will have at least one affected parent. Using the codes: WW (woolly hair) Female parent phenotype: Male parent phenotype: Ww (woolly hair, heterozygous) W w (normal hair) (a) Enter the parent phenotypes and complete the Punnett square for a…arrow_forwardAnhidrotic ectodermal dysplasia is an X-linked recessive disorder in humans characterized by small teeth, no sweat glands, and sparse body hair. This trait is usually seen in men, but women who are heterozygous carriers of the trait often have irregular patches of skin with few or no sweat glands (see the illustration below). Q. Explain why women who are heterozygous carriers of a recessive gene for anhidrotic ectodermal dysplasia have irregular patches of skin lacking sweat glands.arrow_forward
- Ill.siven the following pedigree below, use Punnett squares for each of the following possibilities: a) X- linked dominant, b) X-linked recessive, c) Autosomal dominant and d) Autosomal recessive in order to determine what is the mode of transmission of this trait. Disease allele = Xª, x², A or a depending on mode of transmission of the disease respectively. Unaffected X chromosome = X *Homozygous unaffected/No 1 *2 carrier=Normal II 1 *4 1 2 3 6. 7 8 a) X-linked dominant 11x12 b) X-linked recessive I 1 x1 2 c) Autosomal dominant 11x12 d) Autosomal recessive I1x12 IV. Based on your analysis what is the mode of transmission for this disease? O+arrow_forwarda. Explain the difference between maternal inheritanceof organelle DNAs and maternal effect inheritance.b. How do the inheritance patterns of phenotypescaused by mitochondrial genes differ from thosecaused by maternal effect genes?arrow_forwardAn individual with 46, XX genotype is diagnosed with Duchenne-type Muscular Dystrophy, a recessive X-linked disorder. Genetic tests confirm that this individual is a heterozygote for this disorder. Briefly, but specifically, explain how it’s possible that they are showing symptoms of this disorder.arrow_forward
- Two related forms of muscular dystrophy—Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)—are both recessive, X-linked, single-gene conditions caused by point mutations, deletions, and insertion in the dystrophin gene. Each mutated form of dystrophin is one allele. Of the two diseases, DMD is much more severe. Given your knowledge of mutations, the genetic code, and translation, propose an explanation for why the two disorders differ greatly in severity.arrow_forwardConsider the following pedigree, which traces the inheritance of a single-gene hereditary disease. Only individuals that are either affected or normal are shown. In other words, potential heterozygotes are NOT indicated. Characterize each of the following modes of inheritance as: impossible, unlikely, or probable. Justify your answers: Autosomal dominant Autosomal recessive X-linked dominant X-linked recessive Y linkedarrow_forwardDetermine what is the most likely mode of inheritance of this disease (whether it is inherited as the result of an X-linked dominant or X-linked recessive trait). Use "A" for the allele associated with the dominant phenotype, and lowercase "a"" for the allele associated with the recessive phenotype. Write the most probable genotype for each individual based on the mode of inheritance you have determined. Show how all the partners are crossed and the expected offspring produced (You may use Punnett Square). OT I OT do IIarrow_forward
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