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
Videos
Textbook Question
Chapter 4, Problem 51P
The pedigree diagram below shows a family in which many individuals are affected by a disease called Leri-Weill dyschondrosteosis (LWD). People with LWD are short in stature due to leg bone deformities; arm bones are also malformed in some individuals. The mutant gene responsible for LWD was identified in 1998 as SHOX, a gene located in a pseudoautosomal region (PAR1) of the X and Y chromosomes.
| a. | Is the SHOX allele that causes LWD dominant or recessive? Explain. (Note: Sex reversal is not involved.) |
| b. | Even though SHOX is located on the X chromosome, the pedigree is atypical for an X-linked allele. What features of the pedigree are incompatible with X-linkage? |
| c. | For each affected individual in the pedigree, determine whether the SHOX disease allele is on the X or the Y. |
| d. | Explain the inheritance pattern of the SHOX disease allele and the SHOX+ normal allele in pedigree. |
| e. | Diagram the crossover event that generated the Y chromosome in individual III-5. Your diagram should indicate the positions of the SHOX (disease) and SHOX (normal) alleles on the X and Y chromosomes in the germ-line cells of individual II-3, and SRY on Y. |
Expert Solution & Answer
Want to see the full answer?
Check out a sample textbook solution
Students have asked these similar questions
In McCune-Albright syndrome, fibrous connective tissue replaces bone, tan patches (café-au-lait spots) dot the skin, and hormone abnormalities cause early puberty and malfunction of the thyroid, pituitary, and adrenal glands. The phenotype is highly variable, and all patients are somatic mosaics for the mutation, which is in the gene GNAS1. Why is the condition seen only in mosaics?
A defective gene on chromosome 15 causes Tay-Sachs disease. It is a central nervous system neurodegenerative disease that most often affects infants, though older children and adults can have late-onset forms of the disease. The defective gene prevents the body from making a protein called hexosaminidase A. Without, hexosaminidase A, chemicals called gangliosides build up in the nerve cells of the brain, destroying brain cells.
Pedigree information regarding the incidence of Tay-Sachs within a family is depicted above. The row below that indicates the genotypes of individuals II-1, II-2, and III-1 is
Select one:
a.
II-1
II-2
III-1
Aa
Aa
aa
b.
II-1
II-2
III-1
XAY
XAXa
XAXa
c.
II-1
II-2
III-1
XAY
XAXA
XaXa
d.
II-1
II-2
III-1
AA
aa
Aa
Familial Down syndrome is similar to primary Down syndrome in that it is caused by trisomy 21. However, in familial Down syndrome,
all or part of the third copy of chromosome 21 has translocated onto another autosome, typically chromosome 14. In cases of familial
Down syndrome, one of the parents of the affected child is often a carrier of a translocated chromosome. The translocation carrier
parent does not have Down syndrome because he or she has a total of two copies of chromosome 21.
Suppose that a woman is a translocation carrier of chromosome 21 on chromosome 14. She conceives six zygotes with a man who
carries no aneuploidies. Match the description of the chromosomes inherited by each zygote with the viability and phenotype of
the zygote.
✓ Two normal copies of 14, two normal copies of 21
two normal copies of 21, one normal copy of 14
✓one normal copy of 14, one 21 to 14 translocation, one
normal copy of 21
✓two normal copies of 14, one normal copy of 21, on 21 to 14…
Chapter 4 Solutions
Genetics: From Genes to Genomes
Ch. 4 - Choose the best matching phrase in the right...Ch. 4 - Humans have 46 chromosomes in each somatic cell....Ch. 4 - The figure that follows shows the metaphase...Ch. 4 - Human XX males who are sex-reversed because they...Ch. 4 - Researchers discovered recently that the sole...Ch. 4 - One oak tree cell with 14 chromosomes undergoes...Ch. 4 - Indicate which of the cells numbered iv matches...Ch. 4 - a. What are the four major stages of the cell...Ch. 4 - Answer the questions that follow for each stage of...Ch. 4 - Can you think of anything that would prevent...
Ch. 4 - One oak tree cell with 14 chromosomes undergoes...Ch. 4 - Which types of cell division mitosis, meiosis I,...Ch. 4 - Complete the following statements using as many of...Ch. 4 - The five cells shown in figure a e are all from...Ch. 4 - One of the first microscopic observations of...Ch. 4 - A person is simultaneously heterozygous for two...Ch. 4 - Assuming i that the two chromosomes in every...Ch. 4 - In the moss Polytrichum commune, the haploid...Ch. 4 - Can you think of anything that would prevent...Ch. 4 - Sister chromatids are held together through...Ch. 4 - The pseudoautosomal regions PARs of the X and Y...Ch. 4 - Remarkably, the platypus has 10 sex chromosomes,...Ch. 4 - Somatic cells of chimpanzees contain 48...Ch. 4 - In humans: a. How many sperm develop from 100...Ch. 4 - Women sometimes develop benign tumors called...Ch. 4 - In a certain strain of turkeys, unfertilized eggs...Ch. 4 - Imagine you have two pure-breeding lines of...Ch. 4 - A system of sex determination known as...Ch. 4 - In Drosophila, the autosomal recessive brown eye...Ch. 4 - Barred feather pattern is a Z-linked dominant...Ch. 4 - When Calvin Bridges observed a large number of...Ch. 4 - In a vial of Drosophila, a research student...Ch. 4 - In 1919, Calvin Bridges began studying an X-linked...Ch. 4 - In Drosophila, a cross was made between a...Ch. 4 - As we learned in this chapter, the white mutation...Ch. 4 - The following is a pedigree of a family in which a...Ch. 4 - Each of the four pedigrees that follow represents...Ch. 4 - The pedigree that follows indicates the occurrence...Ch. 4 - Duchenne muscular dystrophy DMD is caused by a...Ch. 4 - The X-linked gene responsible for DMD encodes a...Ch. 4 - Males have hemophilia when they are hemizygous for...Ch. 4 - In the Fast Forward Box Visualizing X Chromosome...Ch. 4 - Consider the following pedigrees from human...Ch. 4 - Several different antigens can be detected in...Ch. 4 - The ancestry of a white female tiger bred in a...Ch. 4 - The pedigree that follows shows the inheritance of...Ch. 4 - In 1995, doctors reported a Chinese family in...Ch. 4 - In cats, the dominant O allele of the X-linked...Ch. 4 - In marsupials like the opposum or kangaroo, X...Ch. 4 - The pedigree diagram below shows a family in which...
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
- One of the most famous cases of an X-linked recessive mutation in humans is that of hemophilia found in the descendants of Britain’s Queen Victoria. The pedigree of the royal family indicates that Victoria was heterozygous for the trait; however, her father was not affected, and no other member of her maternal line appeared to carry the mutation. What are some possible explanations of how the mutation arose? What types of mutations could lead to the disease?arrow_forwardThere are two genetic disorders that result from mutation in imprinted genes: Prader-Willi syndrome, Angelman syndrome. Angelman syndrome results from deletion of UBE3A, which is a gene imprinted such that only the maternal copy is expressed. In the pedigree above, individual I-1 is heterozygous for a deletion of UBE3A and does not have Angelman syndrome. Individual I-2 is homozygous wild type for UBE3A. Which individuals in the pedigree are at risk for exhibiting Angelman syndrome, if any? (Who could potentially have the syndrome, based on what alleles it is possible for them to inherit and express?) Question 8 options: Only I-1 could have been at risk. If he does not have the syndrome, no one in the pedigree could. Only III-1 is at risk I-1, II-2, and III-1 are all at risk Only II-2 is at risk No one in the pedigree is at risk Both II-2 and III-1 are at…arrow_forwardARVC5 is a disorder characterized by the replacement of healthy heart tissue with fatty fibrous tissue. Recent research has discovered the mutated gene that causes the disorder is on chromosome 3. People who have the mutation have a GCG triplet instead of the normal ACA triplet. The following is a section of a gene on chromosome 3: GGT GCG ACA ATT 1. Complete the following table. AA DNA sense strand DNA antisense strand GGT GCG ACA ATT mRNA tRNA 2. Indicate the change in the amino acid sequence resulting from the mutation in the gene described above., B I 123 ||| 14 E GO LG US X₂ x²arrow_forward
- Tay Sachs is a rare autosomal recessive disorder that causes mental and physical disabilities leading to death in infants. Affected individuals are lacking the enzyme hexosaminidase, causing lipids to build up in the brain.The HEXA gene on chromosome 15 codes for hexosaminidase, and a four base pair insertion in the gene results in an altered reading frame and non-functional enzyme being produced. Individuals who are carriers (heterozygotes) of the Tay-Sachs allele are not affected by the disease but appear to have increased protection against tuberculosis.The incidence of Tay-Sachs disease is much higher among Ashkenazi Jews originating from Eastern Europe than the general population of the United States. About 1 in 3 500 babies of Ashkenazi Jewish heritage are born with Tay-Sachs disease and about 1 in 30 Ashkenazi Jews are carriers compared to about 1 in 320 000 babies born with the disease and about 1 in 300 carriers in the general United States population. Ashkenazi Jews living in…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_forwardThe following pedigree illustrates the inheritance of Nance–Horan syndrome, a rare genetic condition in which affected people have cataracts and abnormally shaped teeth.arrow_forward
- Congenital hypertrichosis (CH) is a very rare X-linked dominant inherited condition. CH is characterized by the growth of dark hair over the body. CH is so rare, only 50 cases have been identified since the Middle Ages. The incidence of this condition is considerably higher in a small Mexican village (from which the partial pedigree below is derived) than the rest of the human population. I II III Use the following information to answer the two questions. IV D II-4 8 9 IV-6 0=10~ 11 1. Using appropriate nomenclature, identify the genotypes for the following 2 individuals: 12 13 your response must include an appropriate legend/key to identify allele symbols. 2. Show how a Punnett square (using the allele symbols from the previous question) is used to determine the probability in percent of individuals III-11 and III-12 next offspring has CH?arrow_forwardThe 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_forwardSandhoff disease is due to a mutation in a gene that encodes a proteincalled hexosaminidase B. This disease has symptoms that aresimilar to those of Tay-Sachs disease. Weakness begins in the first 6 months of life. Individuals exhibit early blindness and progressive mental and motor deterioration. The family in the pedigree shown below has three members with Sandhoff disease, indicated with black symbols.arrow_forward
- In a particular country in sub-Saharan Africa, a medical study revealed that 0.075% of the country's population are suffering from sickle-cell anemia. Sickle cell disease is caused by a mutation in the haemoglobin-Beta gene found on chromosome 11. Sickle cell anemia is controlled by a pair of alleles, H and h, where the individuals with the illness have the homozygous recessive genotype; those with normal red blood cells have the alternative genotype. Using the Hardy-Weinberg's equation, calculate the percentage of the population of the two genotypes for normal blood cells. In a few remote areas in that country, the percentage of sickle cell anemia reaches as high as 5%. Calculate the percentage of homozygous and heterozygous individuals with the normal blood cells and find the ratio for both phenotypes.arrow_forwardBelow is a pedigree of a family with a history of Best disease (or vitelliform macular dystrophy). All members of this family underwent ASO testing using two different oligonucleotides (ASO 1 and ASO 2): one that hybridizes to the only known mutation that leads to Best disease and one that hybridizes to the wild-type gene sequence in the same region. From the information you have, how is Best disease most likely inherited? 1. II. III. 0 0 0 0 0 1 ? autosomal dominant autosomal recessive x-linked recessive x-linked dominant you cannot determine ASO 1 ASO 2 1-1 1-2 II-1 11-2 11-3arrow_forwardThe DNA of every individual in the pedigree shown below has been sequenced at the causative locus. All the non-shaded individuals are wild type apart from III.1. III.1 has been proven to have the causative mutation for this autosomal dominant condition, but they exhibit no symptoms. Based on this small pedigree, what is the level of penetrance for the condition? Please give your answer as a WHOLE percentage, give the number only, no percentage symbol. Answer: The level of penetrance for the condition shown in the pedigree below is Blank 1 percent. 1:1 1:2 Il:1 I1:2 I1:3 Il:4 I1:5 I1:6 II:1 I:2 III:3 III:4 III:3 III:6 III:7 III:8 III:9 III:10 III:11 III12 II:13 III:14 IV:1 | IV:2 IV:3 IV:4 IV:5 IV:6 IV:7 IV:8 IV:9 IV:10 IV:11 IV:12 IV:13 IV:14 IV:15 IV:16 IV:17 IV:18 IV:19 V:1 V:2 V:3 V:4 V:5 V:6 V:7 V:8 V:9 V:10 V:11 V:12arrow_forward
arrow_back_ios
SEE MORE QUESTIONS
arrow_forward_ios
Recommended textbooks for you
Human Anatomy & Physiology (11th Edition)BiologyISBN:9780134580999Author:Elaine N. Marieb, Katja N. HoehnPublisher:PEARSON
Biology 2eBiologyISBN:9781947172517Author:Matthew Douglas, Jung Choi, Mary Ann ClarkPublisher:OpenStax
Anatomy & PhysiologyBiologyISBN:9781259398629Author:McKinley, Michael P., O'loughlin, Valerie Dean, Bidle, Theresa StouterPublisher:Mcgraw Hill Education,
Molecular Biology of the Cell (Sixth Edition)BiologyISBN:9780815344322Author:Bruce Alberts, Alexander D. Johnson, Julian Lewis, David Morgan, Martin Raff, Keith Roberts, Peter WalterPublisher:W. W. Norton & Company
Laboratory Manual For Human Anatomy & PhysiologyBiologyISBN:9781260159363Author:Martin, Terry R., Prentice-craver, CynthiaPublisher:McGraw-Hill Publishing Co.
Inquiry Into Life (16th Edition)BiologyISBN:9781260231700Author:Sylvia S. Mader, Michael WindelspechtPublisher:McGraw Hill Education
Human Anatomy & Physiology (11th Edition)
Biology
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:PEARSON
Biology 2e
Biology
ISBN:9781947172517
Author:Matthew Douglas, Jung Choi, Mary Ann Clark
Publisher:OpenStax
Anatomy & Physiology
Biology
ISBN:9781259398629
Author:McKinley, Michael P., O'loughlin, Valerie Dean, Bidle, Theresa Stouter
Publisher:Mcgraw Hill Education,
Molecular Biology of the Cell (Sixth Edition)
Biology
ISBN:9780815344322
Author:Bruce Alberts, Alexander D. Johnson, Julian Lewis, David Morgan, Martin Raff, Keith Roberts, Peter Walter
Publisher:W. W. Norton & Company
Laboratory Manual For Human Anatomy & Physiology
Biology
ISBN:9781260159363
Author:Martin, Terry R., Prentice-craver, Cynthia
Publisher:McGraw-Hill Publishing Co.
Inquiry Into Life (16th Edition)
Biology
ISBN:9781260231700
Author:Sylvia S. Mader, Michael Windelspecht
Publisher:McGraw Hill Education
Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY