Genetics: From Genes to Genomes, 5th edition
5th Edition
ISBN: 9780073525310
Author: Leland H. Hartwell, Michael L. Goldberg, Janice A. Fischer, Leroy Hood, Charles F. Aquadro
Publisher: McGraw-Hill Education
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Question
Chapter 3, Problem 41P
Summary Introduction
a.
To determine:
Whether the description of individuals with spherocytosis represents incomplete penetrance, variable expressivity, or both. Also, whether an individual derives any values from numerical data to measure incomplete penetrance or variable expressivity.
Introduction:
Penetrance is defined as the proportion of people with a specific genotype who exhibit the expected
Summary Introduction
b.
To determine:
The treatment for spherocytosis and the way incomplete dominance or variable expressivity would affect the treatment.
Introduction:
Individuals carrying similar genotypes can exhibit variation in the expression of phenotypes. The extent to which a specific genotype is expressed in a phenotype is known as expressivity.
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Spherocytosis is an inherited blood disease in whichthe erythrocytes (red blood cells) are spherical insteadof biconcave. This condition can be inherited in adominant fashion, with ANK1 (the nonfunctional mutant allele) dominant to ANK1+. In people with spherocytosis, the spleen recognizes the spherical redblood cells as defective and removes them from thebloodstream, leading to anemia. The spleen in different people removes the spherical erythrocytes withdifferent efficiencies. Some people with sphericalerythrocytes suffer severe anemia and some mild anemia, yet others have spleens that function so poorly nosymptoms of anemia exist at all. When 2400 peoplewith the genotype ANK1 ANK1+ were examined, itwas found that all of them had spherical erythrocytes,2250 had anemia of varying severity, and 150 had nosymptoms. (Assume that ANK1 ANK1 homozygotesdo not exist.)a. Does this description of people with spherocytosisrepresent incomplete penetrance, variable expressivity, or both? Explain…
Several genes in humans in addition to the ABO gene () give rise to recognizable antigens on the surface of the red blood cells. The
Rh marker is determined by positive (R) and negative alleles () of gene R, where R is completely dominant to r. The presence of M and
N surface proteins are controlled by two codominant alleles of gene L (LM and LM. For each mother-child pair, choose the father of
the child from among the males in the right column. (Assume that all mothers and fathers are HH; there is no involvement of the
Bombay phenotype.)
Paternal genotypes maybe used once, more than once, or not at all. Each mother-child pair matches with one or more than one
paternal genotype.
Maternal phenotype:
Child phenotype:
Paternal genotype:
Reset
A, M, Rh(neg)
O, M, Rh(pos)
B, N, Rh(neg)
O, N, Rh(pos)
O, M, Rh(neg)
A, MN, Rh(pos)
A, N, Rh(pos)
AB, MN, Rh(pos)
B, N, Rh(pos)
A, MN, Rh(neg)
Genotypes of
possible fathers
AiLMLN rr
BiLMLN RR
ii LNLN rr
ii LMLM rr
AALMLN RR
α-thalassemia is another blood disorder in which abnormal hemoglobin molecules are formed, leading to anemia. One mutant allele known to cause α-thalassemia occurs in α-hemoglobin and is called Constant Spring. Normal α-hemoglobin is 141 amino acids long, while the Constant Spring protein is 172 amino acids long. Include answers to both A and B in your response. A maximum of 2 sentences per part.
A) Explain how a frameshift mutation in the coding region of α-hemoglobin could result in the Constant Spring protein.
B) Explain how a single base-substitution mutation in the coding region of α-hemoglobin could result in the Constant Spring protein.
Chapter 3 Solutions
Genetics: From Genes to Genomes, 5th edition
Ch. 3 - For each of the terms in the left column, choose...Ch. 3 - In four-oclocks, the allele for red flowers is...Ch. 3 - The Aa heterozygous snapdragons in Fig. 3.3 are...Ch. 3 - In the fruit fly Drosophila melanogaster, very...Ch. 3 - A cross between two plants that both have yellow...Ch. 3 - In radishes, color and shape are each controlled...Ch. 3 - A wild legume with white flowers and long pods is...Ch. 3 - Prob. 8PCh. 3 - Assuming no involvement of the Bombay phenotype:...Ch. 3 - Several genes in humans in addition to the ABO...
Ch. 3 - Alleles of the gene that determines seed coat...Ch. 3 - Prob. 12PCh. 3 - In a population of rabbits, you find three...Ch. 3 - In clover plants, the pattern on the leaves is...Ch. 3 - Fruit flies with one allele for curly wings Cy and...Ch. 3 - Prob. 16PCh. 3 - In a species of tropical fish, a colorful orange...Ch. 3 - A rooster with a particular comb morphology called...Ch. 3 - A black mare was crossed to a chestnut stallion...Ch. 3 - Prob. 20PCh. 3 - Prob. 21PCh. 3 - a. How could you describe inheritance of flower...Ch. 3 - Explain the difference between epistasis and...Ch. 3 - The dominant allele H reduces the number of body...Ch. 3 - Secretors genotypes SS and Ss secrete their A and...Ch. 3 - Normally, wild violets have yellow petals with...Ch. 3 - Prob. 27PCh. 3 - Three different pure-breeding strains of corn that...Ch. 3 - In mice, the AY allele of the agouti gene is a...Ch. 3 - A student whose hobby was fishing pulled a very...Ch. 3 - Prob. 31PCh. 3 - Prob. 32PCh. 3 - Three genes in fruit flies affect a particular...Ch. 3 - The garden flower Salpiglossis sinuata painted...Ch. 3 - In foxgloves, there are three different petal...Ch. 3 - In a culture of fruit flies, matings between any...Ch. 3 - Suppose that blue flower color in a plant species...Ch. 3 - Prob. 38PCh. 3 - Considering your answers to Problem 38, does the...Ch. 3 - Prob. 40PCh. 3 - Prob. 41PCh. 3 - Familial hypercholesterolemia FH is an inherited...Ch. 3 - You have come into contact with two unrelated...Ch. 3 - Polycystic kidney disease is a dominant trait that...Ch. 3 - Using each of the seven coat color genes discussed...
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- A gene contains the sequence CGCATACGGTAC that results in the amino acid sequence arg-ile-arg- tyr. A mutation in this gene has a G inserted after the second C in the strand. How will this mutation affect the phenotype? A:This will affect the phenotype because although most of the protein will be identical, the first amino acid will be different. B:This will not affect the phenotype because only the second amino acid is different from the original protein. C:This will not affect the phenotype because the protein will be identical to the original protein. D:This will affect the phenotvpe because all of the amino acids after the first one will be different from he original protein.arrow_forwardThe gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above to answer the following question: Using the left-hand menu to view the sequence for IGLL1, what are the last 12 nucleic acid bases of exon 1?arrow_forwardThe gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above to answer the following question: According to the web site above, how many phenotypes is IGLL1 associated with? ANSWER: IGLL1 is associated with Blank ... phenotypes.arrow_forward
- The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click, 'show transcript table', to answer the following question: What is the size in amino acid residues of the IGLL1 transcript named IGLL1-203? NOTE: Please give your answer as a number, not a word, and do not type the units.arrow_forwardThe gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click 'show transcript table' to answer the following question: What is the NCBI accession number (including the version) of the RefSeq Match for the transcript IGLL1-202? ANSWER: The NCBI accession number (including the version) of the RefSeq Match for the transcript IGLL1-202 is "Blank 1".arrow_forwardLesch-Nyhan syndrome is due to a mutation in a gene that encodesa protein called hypoxanthine-guanine phosphoribosyltransferase(HPRT). HPRT is an enzyme that functions in purine metabolism.People afflicted with this syndrome have severe neurodegenerationand loss of motor control. The pedigree below contains severalindividuals with Lesch-Nyhan syndrome, shown with blacksymbols. Based on this pedigree, does this syndrome appearto be inherited by an autosomal recessive, autosomal dominant,X-linked recessive, or X-linked dominant pattern? Explainyour reasoning.arrow_forward
- The gene known to be mutated in cases of Agammaglobulinemia 2 (which is inherited in an autosomal recessive pattern) is the immunoglobulin lambda like polypeptide 1 (IGLL1 ENSG00000128322). What is known about the gene is recorded here: http://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000128322;r=22:23573125-23580302 Please navigate to the link above and click, 'show transcript table', to answer the following question: What is the size in base pairs of the IGLL1 transcript named IGLL-202?arrow_forwardHurler syndrome is due to a mutation in a gene that encodes aprotein called α-l-iduronidase. This protein functions withinlysosomes as an enzyme that breaks down mucopolysaccharides(a type of polysaccharide that has many acidic groups attached).When this enzyme is defective, excessive amounts of the mucopolysaccharides dermatan sulfate and heparin sulfate accumulatewithin the lysosomes, especially in liver cells and connectivetissue cells. This accumulation leads to symptoms such as anenlarged liver and spleen, bone abnormalities, corneal clouding,heart problems, and severe neurological problems. The pedigreebelow contains three members affected with Hurler syndrome,indicated with black symbols. Based on this pedigree, does thissyndrome appear to follow autosomal recessive, autosomaldominant, X-linked recessive, or X-linked dominant inheritance?Explain your reasoning.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
- Cystic fibrosis is a disease that occurs when an individual carries two copies of a recessive version of a membrane transport gene. A person that is a carrier for cystic fibrosis (that means they carry one copy of the gene that causes cystic fibrosis but their other copy is normal - they do not have cystic fibrosis) has a child with another person that is also a carrier for cystic fibrosis. What is the probability that this couple has three children that do not have cystic fibrosis AND are also not carriers of cystic fibrosis? 0.25 0.422 0.016 2.25 0.75arrow_forwardAn experimental assay for the blood-clotting protein called factorIX is available. A blood sample was obtained from each individual in the following pedigree. The amount of factor IX protein, shown within each symbol on the pedigree, is expressed as a percentage of the average amount observed in individuals who do not carry a mutant copy of the gene.arrow_forwardUse the pedigree to answer the questions that follow. Make sure you put your answer in the correct blank. A) AB В 1 5 II A A AB B A AB A 3 5 6 7 8 II A A B 2 3 5 6 a) State the possible blood type(s) of individual I-4 b) State the possible blood type(s) of individual I-6 c) State the possible genotype(s) of individual Il-5 d) State the possible genotype(s) of individual II-6 e) Determine the percentage chance that couple Il-4 and Il-5 have another child that has type O blood 2.arrow_forward
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