Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Textbook Question
Chapter 4, Problem 11QP
Analysis of Autosomal Recessive and Dominant Traits
Describe the primary gene or protein defect and the
resulting
- a. cystic fibrosis
- b. Marfan syndrome
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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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- Explain about several clinical stages that arecharacterized by the stepwise accumulation of genetic defects in several genes ?arrow_forwardDuchenne muscular dystrophy describe the function of the gene and gene product as well as the phenotype (clinical picture). Explain how mutations in the gene and protein could contribute to the observed phenotype. Discuss the protein structures associated with the condition. How is it helpful in understanding gene’s function and in possible explaining of the pathology.arrow_forwardTalk about the challenges involved in determining the genetic components of polygenic illnesses. Explain complementation groups and how the biochemical underpinnings of disease are determined using them. Hereditary illnesses of genomic instability include Werner syndrome, Bloom syndrome, XP, ataxia-telangiectasia, and Fanconi anemia. Which of these ailments has molecular mechanisms behind it? Which kind of genetic instability is connected to which disorder?.arrow_forward
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- Faulty Tooth Enamel Formation 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…arrow_forwardDefine common variantsarrow_forwarda. Each person inherits one copy of the Huntington's Disease gene from each parent. Explain why the negative control sample (from an unaffected individual) only produced one band. b. Explain why the positive control sample (from an individual affected by Huntington’s disease) produced twobands.arrow_forward
- Neurofibromatosis type 1 (NF1) is an inherited is an inheritent dominant disorder. The phenotype usually involves the production of many skin neurofibromas. Answer the following questions about the disorder: a) Are the NF1 neurofibromatosis-causing mutations that are inherited by affected children from affected parents likely to be loss-of-function or gain-of-function mutations? b) Neurofibromin, the protein product of NF1, is associated with the Ras protein. Ras is involved in the transduction of extracellular signals from growth factors. The active form of Ras is complexed with GTP; the inactive form is complexed with GDP. Would the wild-type neurofibromin protein favor the formation of Ras-GTP or Ras-GDP? c) Which of the following events in a normal cell from an individual inheriting a neurofibromatosis-causing allele could cause the descendents of that cell to turn into a neurofibroma? i. A second point mutation in…arrow_forwardAnalyze the karyotype shown. Indicate if it is a chromosomal male or achromosomal female. If the karyotype is normal, write the word normal under name or description. If the karyotype is abnormal, name or describethe disorder.arrow_forwardDiscuss the following types of mutations, with reference to specific genetic disorders: i) Chromosomal deletion; ii) Reciprocal translocation; and iii) Haploinsufficiencyarrow_forward
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