Genetics: From Genes to Genomes
6th Edition
ISBN: 9781259700903
Author: Leland Hartwell Dr., Michael L. Goldberg Professor Dr., Janice Fischer, Leroy Hood Dr.
Publisher: McGraw-Hill Education
expand_more
expand_more
format_list_bulleted
Concept explainers
Textbook Question
Chapter 20, Problem 19P
A female patient 19 years old, whose symptoms are anemia and internal bleeding due to a massive buildup of leukemic white blood cells, is diagnosed with chronic myelogenous leukemia (CML). Karyotype analysis shows that the leukemic cells of this patient are heterozygous for a reciprocal translocation involving chromosomes 9 and 22. However, none of the normal, nonleukemic cells of this patient contain the translocation. Which of the following statements is true and which is false?
a. | The translocation results in the inactivation (loss of function) of a tumor-suppressor gene. |
b. | The translocation results in the inactivation (loss of function) of an oncogene. |
c. | There is a 50% chance that any child of this patient will have CML. |
d. | This patient is a somatic mosaic in terms of the karyotype. |
e. | DNA extracted from leukemic cells of this patient, if taken up by normal mouse tissue culture cells, could potentially transform the mouse cells into cells capable of causing tumors. |
f. | The normal function of the affected tumor-suppressor gene or proto-oncogene at the translocation breakpoint could potentially block the function of the cyclin proteins that drive the cell cycle forward. |
g. | Two rare events must have occurred to disrupt both copies of the tumor-suppressor gene or proto-oncogene at the translocation breakpoint in the leukemic cells. |
h. | A possible treatment of leukemia would involve a drug that would turn on the expression of the tumorsuppressor gene or oncogene at the translocation breakpoint in the leukemic cells. |
Expert Solution & Answer
Want to see the full answer?
Check out a sample textbook solutionStudents have asked these similar questions
What is the Philadelphia chromosome? Briefly describe how it causes chronic myeloid leukemia.
A normal appearing female infant was identified with a positive newborn screen, linked to chromosome 12. Few years ago, her older sibling had
developed profound hypoglycemia, liver failure leading to coma, and subsequent irreparable brain damage, following a viral illness. The sibling was
subsequently shown by clinical testing to have the same disorder that this female infant is screened positive for.
a. What is the most likely diagnosis?
b. What biomarkers would confirm this on the newborn screening process? Describe the mechanism that causes this metabolic defect.
WHIM syndrome is a disease of the immunesystem resulting in warts and frequent infections.The disease is caused by a dominant gain-of-functionmutation in a gene on chromosome 2 called CXCR4.A 38-year-old woman suffering with WHIM syndrome her entire life was suddenly and mysteriouslycured. Genome analysis of her blood precursor cells(stem cells) revealed that many of these cells had achromosome 2 that had undergone chromotripsis—arare (and poorly understood) process where a chromosome is “shattered” into small pieces that are subsequently stitched back together in random order, resultingin many deletions and inversions. Explain howchromotripsis of chromosome 2 in a blood stem cellcould have cured the woman of WHIM syndrome.
Chapter 20 Solutions
Genetics: From Genes to Genomes
Ch. 20 - For each of the terms in the left column, choose...Ch. 20 - Characterize the differences between tumor cells...Ch. 20 - Prob. 3PCh. 20 - Prob. 4PCh. 20 - A carcinogenic compound is placed on the skin of...Ch. 20 - You have decided to study genetic factors...Ch. 20 - B cells are specialized blood cells that secrete...Ch. 20 - Molecules outside and inside the cell regulate the...Ch. 20 - Put the following steps in the correct ordered...Ch. 20 - a. Would you expect a cell to continue or to stop...
Ch. 20 - Two different protein complexes called SCF and APC...Ch. 20 - One of the hallmarks of mitotic anaphase is the...Ch. 20 - Concerning the Tools of Genetics Box Analysis of...Ch. 20 - Are genome and karyotype instabilities...Ch. 20 - Prob. 15PCh. 20 - Why dont all loss-of-function mutations that are...Ch. 20 - Chromothripsis is a rare phenomenon, first...Ch. 20 - The chromosome 9/22 translocation associated with...Ch. 20 - A female patient 19 years old, whose symptoms are...Ch. 20 - Prob. 20PCh. 20 - A generic signaling cascade is shown in the...Ch. 20 - Neurofibromatosis type 1 NF1; also known as von...Ch. 20 - Families with germ-line BRCA1 or BRCA2...Ch. 20 - The text explained that retroviruses can cause...Ch. 20 - Hepatocellular carcinoma is the most frequent form...Ch. 20 - Suppose that instead of microarrays, you analyzed...Ch. 20 - Prob. 27PCh. 20 - Glioblastoma multiforme GBM is the most common and...Ch. 20 - a. The legend to Fig. 20.29 identifies which of...Ch. 20 - The website CBioPortal http://www.cbioportal.org...
Knowledge Booster
Learn more about
Need a deep-dive on the concept behind this application? Look no further. Learn more about this topic, biology and related others by exploring similar questions and additional content below.Similar questions
- The dominant condition elliptocytosis causes red blood cells to become misshapen into oval-shaped cells. One of the genes responsible for the abnormal shape encodes the band 4.1 protein that together with ankyrin and other scaffold proteins creates and maintains the spherical concave shape of a normal red blood cell. The gene for band 4.1 protein, EPB41, is found on the p arm of chromosome 1. This is very close to the gene encoding the red blood cell Rhesus (Rh) blood type, either phenotype + (dominant) or - (recessive), with a recombination frequency of 2%. This means that 98% of the time alleles for these two genes are linked and are transmitted together. Diane and Jack are siblings, and both have elliptocytosis and Rh+ blood type. Due to the elliptocytosis, both had emergency splenectomies after having severe anemia. Their younger brother, Devonté, has not yet shown signs of elliptocytosis, but has Rh- blood. André, their dad, also has elliptocytosis and Rh+ blood; while their…arrow_forwardTo detect the CAG repeat expansion with a particular gene where 30 repeats in Normal changes to 250 repeats in a certain disease, how can we diagnose the condition. How To identify Y chromosome microdeletion ( which involves the deletion of AZF locus) using conventional karyotyping? If not then why. How will you diagnose a chromosomal translocation event?arrow_forward1. The location of hemophilia C- factor XI is 4q35, where exactly is it? Describe.2. Referring to image of chromosome 16 provided, indicate the exact location of the geneslabeled a-k:arrow_forward
- 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?arrow_forwardWhat is the significance of the Philadelphia chromosome, and how is it related to leukemia?arrow_forwardAchondroplasia 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…arrow_forward
- Comparing the colchicine-treated cell and the untreated cell, what general type of chromosomal mutation did colchicine induce?arrow_forwardFriedreich ataxia (FRDA) is an autosomal recessive, neurodegenerative disease that causes a lack of voluntary coordination of muscle movements. Affected individuals are homozygous for an unusually large number (expansion) of repeats of a trinucleotide sequence (GAA) in the first intron of the X25 gene. Unaffected individuals typically have between 7 and 38 repeats of the trinucleotide (GAAGAAGAAGAA…). FRDA patients have anywhere from 66 to over 1,700 repeats. To understand how the GAA trinucleotide expansion leads to FRDA, researchers looked at X25 gene expression by extracting RNA from affected and unaffected patients and doing a northern blot analysis (see the figure below): In panel “a,” the researchers used a probe to detect X25 mRNA. In panel “b,” the researchers used a probe on a duplicate of the original blot to detect human GAPDH mRNA (GAPDH is an enzyme involved in glycolysis). The sample labeled “YR” is mRNA from yeast cells that was used as a control. Explain…arrow_forwardEach of the four types of structural chromosomal mutations is illustrated below. Label each picture with the type of chromosomal mutation that has occurred.arrow_forward
- What characteristics of the pedigree suggest that pancreatic cancer in this family is inherited as an autosomal dominant trait?arrow_forwardMelanoma, 45 Colon cancer, 40 Sarcoma, 45 Breast Lung cancer, 53 cancer, 32 Stomach cancer, 50 Brain cancer, 18 Osteosarcoma, 3 Leukemia, 19 Rhabdomyosarcoma, 14 Answer the following subparts :- A. What do you notice in this pedigree as compared to Rb or BRCA1/2? B. Why do you think that so many cancer types are associated with inherited defects in p53? Please need detailed answer I want to learn please please I will upvote god promise|arrow_forwardFigure 1-15 shows the family tree, or pedigree, for LouiseBenge (Individual VI-1) who suffers from the diseaseACDC because she has two mutant copies of the CD73gene. She has four siblings (VI-2, VI-3, VI-4, and VI-5)who have this disease for the same reason. Do all of the10 children of Louise and her siblings have the samenumber of mutant copies of the CD73 gene, or mightthis number be different for some of the 10 children?arrow_forward
arrow_back_ios
SEE MORE QUESTIONS
arrow_forward_ios
Recommended textbooks for you
- Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning
Human Heredity: Principles and Issues (MindTap Co...
Biology
ISBN:9781305251052
Author:Michael Cummings
Publisher:Cengage Learning
Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY