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 4, Problem 48P
In 1995, doctors reported a Chinese family in which retinitis pigmentosa (progressive degeneration of the retina leading to blindness) affected only males. All six sons of affected males were affected, but all of the five daughters of affected males (and all of the children of these daughters) were unaffected.
a. | What is the likelihood that this form of retinitis pigmentosa is due to an autosomal mutation showing complete dominance? |
b. | What other possibilities could explain the inheritance of retinitis pigmentosa in this family? Which of these possibilities do you think is most likely? |
Expert Solution & Answer
Want to see the full answer?
Check out a sample textbook solutionStudents have asked these similar questions
In 1995, doctors reported a Chinese family in whichretinitis pigmentosa (progressive degeneration of theretina leading to blindness) affected only males. Allsix sons of affected males were affected, but all of thefive daughters of affected males (and all of thechildren of these daughters) were unaffected.a. What is the likelihood that this form of retinitispigmentosa is due to an autosomal mutationshowing complete dominance?b. What other possibilities could explain the inheritance of retinitis pigmentosa in this family? Whichof these possibilities do you think is most likely?
Susan’s grandfather was deaf, and passed down a hereditary form of deafness within Susan’s family as shown in Figure Q19–12.A. Is this mutation most likely to be dominant or recessive?B. Is it carried on an autosome or a sex chromosome? Why?C. A complete SNP analysis has been done for all of the 11 grandchildren (4 affected, and 7 unaffected). In comparing these 11 SNP results, how long a haplotype block would you expect to find around the critical gene? How might you detect it?
Suppose a man carries a very uncommon dominant mutation for a deadly muscular disease that doesn't show up until people are usually over 50 years of age (he has the disease). He and his wife are expecting their first child--a girl. What is the probability she will also have the disease if...
(1) it is autosomal(2) it is X-linked(3) it is Y-linked
Explain each answer in detail. Assume the penetrance of the trait is 100%.
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
- The wild-type (normal) fruit fly, Drosophila melanogaster, has straight wings and long bristles. Mutant strains have been isolated that have either curled wings or short bristles. The genes representing these two mutant traits are located on separate chromosomes. Carefully examine the data from the following five crosses shown below (running across both columns). (a) Identify each mutation as either dominant or recessive. In each case, indicate which crosses support your answer. (b) Assign gene symbols and, for each cross, determine the genotypes of the parents.arrow_forwardA made-up genetic phenotype in humans results in some people having both brown and blond body hair. It is noticeable only if you look closely and these individuals which have small. medium, and large patches of brown hair and small, medium, large patches of blond body hair spread throughout their body. a.) If this phenotype is only seen in females, males have completely blond or brown body hair, how would you describe the genetic nature of this phenotype?arrow_forwardThis 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_forward
- Anhidrotic ectodermal dysplasia is an X-linked recessive disorder in humans characterized by small teeth, no sweat glands, and sparse body hair. This trait is usually seen in men, but women who are heterozygous carriers of the trait often have irregular patches of skin with few or no sweat glands (see the illustration below). a. Explain why women who are heterozygous carriers of a recessive gene for anhidrotic ectodermal dysplasia have irregular patches of skin lacking sweat glands. b. Why does the distribution of the patches of skin lacking sweat glands differ among the females depicted in the illustration, even between the identical twins?arrow_forwardIN DROSOPHILA, AN X-LINKED RECESSIVE MUTATION, Xm CAUSES MINIATURE WINGS. LIST THE F₂ PHENOTYPIC RATIOS IF: A MINIATURE-WINGED FEMALE IS CROSSED WITH A NORMAL MALE AND A MINIATURE-WINGED MALE IS ● ● CROSSED WITH A NORMAL FEMALE. WHAT WOULD THE PHENOTYPIC RATIO FROM (A) BE IF THE MINIATURE- WINGED GENE WERE AUTOSOMAL? ASSUME IN ALL CASES THAT THE P1 INDIVIDUALS ARE TRUE-BREEDING.arrow_forwardColor blindness in humans is controlled by an X-linked completely recessive allele (Xc), while breast cancer is controlled by an autosomal completely dominant allele, B. A color blind male, who is a heterozygote carrier for breast cancer has three children/n with a normal eyed female (whose mother was color blind), who is homozygote recessive for the breast cancer allele. What is the probability that out of three children, 2 will be color blind males, and not show breast cancer, and one will be a color blind female, who shows breast cancer?arrow_forward
- Consider the following pedigree. 하 3 10 (5 3 2 (a) What pattern of transmission is most consistent with this pedigree? (1) autosomal recessive, (2) autosomal dominant, (3) X-linked recessive, (4) X-linked dominant. (b) If individual V-2 marries a normal individual, and if the condition has a pene-trance of 85 percent, what is the probability that their second child will express the trait? (c) On the third line, what does the diamond with a 10 in the middle mean?arrow_forwardTake the example of B-thalassemia, an autosomal recessive genetic disease that particularly affects people from around the Mediterranean. This disease is associated with an anomaly of hemoglobin, a protein essential for the transport of oxygen, which is composed of four chains: two alpha (a) and two beta (B). In case of B-thalassemia, the ẞ chains are produced in insufficient or no quantity in an individual homozygous recessive resulting in insufficient production of overall hemoglobin leading to anemia and other physiological challenges. The gene that controls the synthesis of the ẞ chains is located on chromosome 11. Here is part of the coding portion of this gene (which controls a total of 146 amino acids and of which you only see the portion 36 to 41) and one of the targeted mutations: 1. Give the sequence of amino acids from the template and mutated strands. 2. What type of point mutation is it? 3. Using the principles of the theory of evolution, explain briefly and generally why…arrow_forwardThe following genotypes of two independently assorting autosomal genes determine coat color in rats:A-B- (gray); A-bb (yellow); aaB-(black); aabb (cream)A third gene pair on a separate autosome determines whetherany color will be produced. The CC and Cc genotypes allow coloraccording to the expression of the A and B alleles. However,the cc genotype results in albino rats regardless of the A and Balleles present. Determine the F1 phenotypic ratio of the followingcrosses: (a)AAbbCC * aaBBcc; (b) AaBBcc * AABbcc;(c) AaBbCc * AaBbcc.arrow_forward
- Six months pregnant, an expectant mother had a routine ultrasound that showed that the limbs of the fetus were unusually short. Her physician suspected that the baby might have a genetic form of dwarfism called achondroplasia, an autosomal dominant trait occurring with a frequency of about 1 in 27,000 births. The parents were directed to a genetic counselor to discuss this diagnosis. In the conference, they learned that achondroplasia is caused by a mutant allele. Sometimes it is passed from one generation to another, but in 80 percent of all cases it is the result of a spontaneous mutation that arises in a gamete of one of the parents. They also learned that most children with achondroplasia have normal intelligence and a normal life span. 1. What information would be most relevant to concluding which of the two mutation origins, inherited or new, most likely pertains in this case? How does this conclusion impact on this couple’s decision to have more children? 2. It has been…arrow_forwardBlack body (b) and purple eye (pr) are recessive autosomal mutations in Drosophila. Bridges are crossed b/b females with pr/pr males and in the F2 observed 684 wild type, 371 black-bodied, and 300 purple-eyed flies. Do these results indicate that the b and pr genes are closely linked? Explain. (Remember that there is no crossing-over in male Drosophila)..arrow_forwardHere is a family pedigree for an imprinting disorder caused by a loss of function mutation in a single imprinted gene. After generation I only related individuals are shown. You can assume that the parents not included in the pedigree did not carry the mutation. %3D II IV V Male O Female Affected Carrier a) Does the mutation involve a gene that is normally expressed from the maternal or from the paternal allele? Briefly explain your logic. b) Identify two ways in which the pattern of inheritance shown in the pedigree is different from X-linked inheritance I. Parthenogenesis has been documented in most vertebrate Classes (e.g. birds, fish) but never in mammals. Genomic imprinting provides one explanation for this observation. Why?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