Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN: 9780134580999
Author: Elaine N. Marieb, Katja N. Hoehn
Publisher: PEARSON
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A geneticist discovers a male mouse with greatly enlarged testes in his
laboratory colony. He suspects that this trait results from a new mutation
that is either Y linked or autosomal dominant. How could he determine
whether the trait is autosomal dominant or Y linked?
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- This pedigree traces the inheritance of a rare disease in humans. a. Based on this pedigree, is the allele for this disease dominant or recessive? Explain. b. What genotypes are possible for the individuals labeled 1, 2, and 3?arrow_forwardThe gene causing Coffin-Lowry syndrome (OMIM 303600) was recently identified and mapped on the human X chromosome. Coffin-Lowry syndrome is a rare disorder affecting brain morphology and development. It also produces skeletal and growth abnormalities, as well as abnormalities of motor control. Coffin-Lowry syndrome affects males who inherit a mutation of the X-linked gene. Most carrier females show no symptoms of the disease but a few carriers do. These carrier females are always less severely affected than males. Offer an explanation for this finding.arrow_forwardBloom syndrome is an autosomal recessive disease that exhibitshaploinsufficiency. A recent survey showed that people heterozygousfor mutations at the BLM locus are at increased risk of colon cancer.Suppose you are a genetic counselor. A young woman is referred to youwhose mother has Bloom syndrome; the young woman’s father has nofamily history of Bloom syndrome. The young woman asks whether sheis likely to experience any other health problems associated with herfamily history of Bloom syndrome. What advice would you give her?arrow_forward
- 17,18arrow_forwardBelow is a pedigree chart for a family that has a history of Alkaptonuria. Individuals infected with this condition can have darkened skin, brown urine, and can suffer from joint damage and other complications. Given this pedigree answer the following questions. Given the data in the pedigree chart is this genetic condition autosomal dominant or autosomal recessive? What are the genotypes for #1, #2, and #3? If either of the 4th generation "aa" females were to mate with a homozygous dominant male would any of their offspring illustrate the phenotype? Why or why not?arrow_forwardHypophoshatemia is a dominant genetic disorder caused by deficiency of pho[hates in the blood. Assuming the other parent is free of the disorder, males with the disorder will pass it on to all their daughters but not their sons. Females with the disorder will pass it on to approximately half of their children. a.) Is this pattern of inheritance autosomal or sex-linked? Explain b.) Draw a Punnett square to show the inheritance pattern of the disorder in each of the two scenariosarrow_forward
- A genetics counselor, Nashaly Montez, notices an odd pattern in Devin’s pedigree, a propensity for cancer development in his family at a higher incidence in males compared to females. This suggests to Nashaly an X-linked recessive disorder that is not manifesting in females as frequently compared to males who only have one X chromosome. She brings this to the attention of Devin’s primary health care provider who has his client checked for common cancer-causing mutations. A mutant LOF Fox3 regulatory allele is found that has an early NONSENSE codon that prevents protein expression. This is unfortunate, since in its wildtype form the protein is normally tumor-suppressing. 1) If Devin’s mother is a carrier of the mutant LOF Fox3 gene, what is the likelihood he will inherit the defective X responsible for the condition. a 100% since he only inherits one X from his mother. b 25% due to the typical 3:1 ratio that manifests in recessive disorders. c 0% since he is…arrow_forwardCystic fibrosis (CF) is an autosomal recessive trait. A three-generation pedigree is shown below for a family that carries the mutant allele for cystic fibrosis. Note that carriers are not colored in to allow you to figure out their genotypes. Normal allele = F CF mutant allele = f What is the genotype of individual #13? A) ff B) FF C) Ff D) it is impossible to tellarrow_forwardTell me whether it is autosomal reccessive inheritance,autosomal domiant inheritance,sex-linked reccessive inheritance, sex-linked dominay inheritance or y-linked inheritance.arrow_forward
- Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that presents in newborns, typically within the first 48 hours after birth. As the name suggests, a key indicator of the disease is the presence of a sweet odor in the urine that smells like maple syrup. Left untreated, MSUD can result in failure of central neurological function and the respiratory system and can be fatal. MSUD is caused by mutations in components of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC). These mutations result in the inability for cells to break down branched-chain amino acids (BCAAs). BCAAs and their byproducts accumulate and are excreted in the urine, giving rise to the maple syrup scent. QUESTIONS: Draw the structures of the three branched-chain amino acids (BCAA). Draw the structures of the three BCAA products released by functional BCKDC. Indicate the original amino acid.arrow_forwardAmelogenesis 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_forwardRetinoblastoma can be seen as a familial cancer, inherited in an autosomal recessive manner (RB-/RB-), individuals heterozygous for the RB+ and RB- alleles can develop tumor as a result of… A mitotic crossover that leads to homozygosity for RB+ in some cells and RB- in other cells A meiotic mutation in the RB+ allele that leads to homozygosity for RB+ A somatic mutation in the RB- allele that leads to homozygosity for RB+ The fact that RB- is dominant to RB+arrow_forward
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