ND STONY BROOK UNIVERSITY LOOSELEAF GENETICS: FROM GENES TO GENOMES
6th Edition
ISBN: 9781260406092
Author: HARTWELL, Leland, HOOD, Leroy, Goldberg, Michael
Publisher: Mcgraw-hill Education/stony Brook University
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Chapter 15, Problem 21P
What characteristics in a human pedigree suggest a mitochondrial location for a mutation affecting the trait?
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A rare blinding disease that has a relation to dengenerative factors is partially penetrant. In the following pedigrees for two families, the affected symptomatic individuals (black circles and squares) have been diagnosed with this disease due to the mutation in mitochondrial DNA m.14484T>C.
If III.4 is homoplasmic for m.14484T>C in hair, blood, urine and other tissues examined. What will occur with IV.7 then?
What is the Characteristic pedigree for mitochondrial disease?
Explain with reason the features of the human pedigree which indicate that a mutation at mitochondrial location affects a trait.
Chapter 15 Solutions
ND STONY BROOK UNIVERSITY LOOSELEAF GENETICS: FROM GENES TO GENOMES
Ch. 15 - Match each numbered item with the most closely...Ch. 15 - Assuming human cells have on average 1000...Ch. 15 - Reverse translation is a term given to the process...Ch. 15 - The human nuclear genome encodes tRNAs with 32...Ch. 15 - The human mitochondrial genome includes no genes...Ch. 15 - How do you know if the halibut you purchased at...Ch. 15 - Is each of these statements true of chloroplast or...Ch. 15 - Suppose you are characterizing the DNA of a...Ch. 15 - An example of a gene-targeting DNA plasmid vector...Ch. 15 - Which of the following characteristics of...
Ch. 15 - The Saccharomyces cerevisiae nuclear gene ARG8...Ch. 15 - The so-called hypervariable regions HV1 and HV2 of...Ch. 15 - Suppose a new mutation arises in a mitochondrial...Ch. 15 - Describe at least two ways in which the...Ch. 15 - Why are severe mitochondrial or chloroplast gene...Ch. 15 - Suppose you are examining a newly found plant...Ch. 15 - A form of male sterility in corn is inherited...Ch. 15 - Plant breeders have long appreciated the...Ch. 15 - A mutant haploid strain of Saccharomyces...Ch. 15 - Prob. 20PCh. 15 - What characteristics in a human pedigree suggest a...Ch. 15 - The first person in the family represented by the...Ch. 15 - In 1988, neurologists in Australia reported the...Ch. 15 - If you were a genetic counselor and had a patient...Ch. 15 - Kearns-Sayre syndrome KSS, Pearson syndrome, and...Ch. 15 - Many clinically relevant mitochondrial diseases...Ch. 15 - Leigh syndrome is characterized by psychomotor...Ch. 15 - All mutations in mitochondrial genes ultimately...Ch. 15 - How could researchers have determined that the...
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- Which of the pedigrees shown above could be one showing the inheritance of a non-lethal mitochondrial disease?arrow_forwardWhich members of the pedigree could have been carriers, and which might have been the source of the mutation?arrow_forwardFamilial 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?arrow_forward
- This pedigree depicts the inheritance of the mitochondrial disease Leber hereditary optic neuropathy (LHON). Individual I-1 does not show any symptoms of LHON, whereas her daughter and all three of her grandchildren are affected. Provide two explanations for this.arrow_forwardThe following pedigree shows the inheritance of a mutation that causes the mitochondrial disease MERFF. Below each individual who carries the mutation is the level of severity of the disease (mild, moderate, or severe). I mild ооо mild moderate moderate severe mild Which of the following statements likely explain this observation? (Select all correct answers.) Individual 1.1 is heteroplasmic for the mutation that causes MERFF Individual 1.1 is homoplasmic for the mutation that causes MERFF Individual 1.1 is homozygous for the mutation that causes MERFFarrow_forwardBelow is a pedigree from one family (two parents and eight children). Four of the children (indicated by shaded shapes) are affected with a serious disease with an unknown genetic cause. a) For the disease, what pattern of inheritance (autosomal/sex-linked, recessive/dominant) is exhibited by this pedigree? b) Linkage analysis of the disease to a series of VNTR polymorphisms on human chromosome 5 is shown above. Is there evidence for linkage between the disorder and the VNTR? Briefly explain your answer.arrow_forward
- The pedigree below shows three generations of a family that carries albinism, an autosomal recessive genetic disease. In the third generation, a child was born with albinism but the genotypes of the rest of the family are unknown. No other family members have the disease. Assume normal, Mendelian genetics with no new mutations. What are the genotypes of the parents of the affected child? A) There is not enough information to determine their genotypes B) Both are homozygous for albinism C) One is hemizygous and one is heterozygous for albinism D) Both are heterozygous for albinism E) One is homozygous and one is heterozygous for abinismarrow_forwardIn addition to the predominant adult hemoglobin,HbA, which contains two α-globin chains and twoβ-globin chains (α2β2), there is a minor hemoglobin,HbA2, composed of two α and two δ chains (α2δ2).The β- and δ-globin genes are arranged in tandem andare highly homologous. Draw the chromosomes thatwould result from an event of unequal crossing-overbetween the β and δ genesarrow_forwardThe following pedigree illustrates the inheritance of a rare neurologicaldisease. What is the most likely mode of inheritance for this disorder?Explain your reasoning.arrow_forward
- What is a segmental duplication?arrow_forwardWhat is the one most probable mode of inheritance for this pedigree and why?arrow_forwardFor decades scientists have been perplexed by different circumstances surrounding families with rare, early-onset auditory neuropathy (deafness). In some families, parents and grandparents of the proband have normal hearing, while in other families, a number of affected (deaf) family members are scattered throughout the pedigree, appearing in every generation. Assuming a genetic cause for each case, offer a reasonable explanation for the genetic origin of such deafness in the two types of families.arrow_forward
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