Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
expand_more
expand_more
format_list_bulleted
Concept explainers
Videos
Question
Chapter 6, Problem 17QP
Summary Introduction
To describe: The lethality of hypothetical genetic disorder that is responsible for condition 1 and is similar to the Marfan syndrome, and the defect, which is responsible for condition 2 that resembles to the Edwards’s syndrome.
Introduction: The lethality of any syndrome is greatly dependent on the symptoms and effects of that syndrome over the organism. Genetic abnormalities are very much lethal to an organism. The genes regulate the cells of an organism via expressing proteins; so, any malfunctioning in the gene may result in the physical change of an individual.
Expert Solution & Answer
Want to see the full answer?
Check out a sample textbook solution
Students have asked these similar questions
A study of three generations in a family of a male colleague of the authors indicated that many of the man's blood relatives had died of cardiovascular accidents and coronary heart disease. Others died of other causes but were affected by high blood pressure. What are the implications of this information for the man in question?
b. What information and help might a genetic counselor provide?
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?
There are two genetic disorders that result from mutation in imprinted genes: Prader-Willi syndrome and Angelman syndrome. Prader-Willi syndrome results from deletion of region 15q11-q13, which in healthy individuals is a region imprinted such that only the paternal copy is expressed.
In the pedigree above, individual I-1 is heterozygous for a deletion of region 15q11-q13 and does not have Prader-Willi syndrome. Individuals I-2 and II-1 are both homozygous wild type for the region. Which individuals in the pedigree might have Prader-Willi syndrome? (Who could potentially have the syndrome, based on what alleles it is possible for them to inherit and express?)
Question 9 options:
Only II-2 could have Prader-Willi syndrome
III-1 could have Prader-Willi syndrome in the presented pedigree; II-2 could only have had it if she were male
Both II-2 and III-1 could have Prader-Willi syndrome
II-2 could have…
Chapter 6 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 6 - Genetics in Practice case studies are...Ch. 6 - Genetics in Practice case studies are...Ch. 6 - Analyzing Karyotypes 1. Originally, karyotypic...Ch. 6 - Given the karyotype shown at right, is this a male...Ch. 6 - A colleague e-mails you saying that she has...Ch. 6 - What are the two most commonly used methods of...Ch. 6 - Prob. 5QPCh. 6 - Discuss the following sets of terms: a. trisomy...Ch. 6 - What chromosomal abnormality can result from...Ch. 6 - Tetraploidy may result from: a. lack of...
Ch. 6 - A cytology student believes he has identified an...Ch. 6 - An individual is found to have some tetraploid...Ch. 6 - A spermatogonial cell undergoes mitosis before...Ch. 6 - A teratogen is an agent that produces nongenetic...Ch. 6 - As a physician, you deliver a baby with protruding...Ch. 6 - Variations in Chromosome NumberAneuploidy Describe...Ch. 6 - A woman gives birth to monozygotic twins. One boy...Ch. 6 - Assume that a meiotic-nondisjunction event causes...Ch. 6 - Prob. 17QPCh. 6 - What is the genetic basis and phenotype for each...Ch. 6 - The majority of nondisjunction events leading to...Ch. 6 - Prob. 20QPCh. 6 - If all the nondisjunction events leading to Turner...Ch. 6 - Identify the type of chromosomal aberration...Ch. 6 - Describe the chromosomal alterations and phenotype...Ch. 6 - A geneticist discovers that a girl with Down...Ch. 6 - Albinism is caused by an autosomal recessive...Ch. 6 - Fragile-X syndrome causes the most common form of...
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
- A geneticist examines an ear of corn in which most kernels are yellow, but he finds a few kernels with purple spots, as shown here. Give a possible explanation for the appearance of the purple spots in these otherwise yellow kernels, accounting for the different sizes of the spots.arrow_forwardDuchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in the gene that encodes dystrophin, a large protein that plays an important role in the development of normal muscle fibers. The Dystrophin gene is immense, spanning 2.5 million base pairs, and includes 79 exons and 78 introns. Many of the mutations that cause DMD produce premature stop codons, which bring protein synthesis to a halt, resulting in a greatly shortened and nonfunctional form of dystrophin. Some geneticists have proposed treating DMD patients by introducing small RNA molecules that cause the spliceosome to skip the exon containing the stop codon (A. Goyenvalle et al., 2004. Science 306:1796–1799). The introduction of the small RNAs will produce a protein that is somewhat shortened because an exon is skipped and some amino acids are missing, but it may still result in a protein that has some function. The small RNAs, antisense RNAs, used for exon skipping are complementary to…arrow_forwardDuchenne muscular dystrophy (DMD) is an X-linked recessive genetic disease caused by mutations in the gene that encodes dystrophin, a large protein that plays an important role in the development of normal muscle fibers. The dystrophin gene is immense, spanning 2.5 million base pairs, and includes 79 exons and 78 introns. Many of the mutations that cause DMD produce premature stop codons, which bring protein synthesis to a halt, resulting in a greatly shortened and nonfunctionalform of dystrophin. Some geneticists have proposed treating DMD patients by causing the spliceosome to skip the exon containing the stop codon. Exon skipping would produce a protein that is somewhat shortened (because an exon is skipped and some amino acids are missing), but might still result in a protein that had some function (A. Goyenvalle et al. 2004. Science 306:1796–1799). Propose a possible mechanism to bring about exon skipping for the treatment of DMD.arrow_forward
- 1. Duchenne’s muscular dystrophy (DMD) is a devastating X-linked recessive disease that causes muscle wasting and is eventually fatal. Meredith’s brother Craig has DMD but Meredith is healthy. You may find it beneficial to draw the family pedigree. a) What is the simple probability (as a percentage) that Meredith is a carrier of a mutation causing DMD? b) Meredith herself has two healthy children, a boy and a girl. Is this anterior (ancestral) or posterior (modifying) information? c) If Meredith IS a carrier for DMD (i.e. scenario A is correct), what is the probability (as a percentage) of her having these two healthy children?arrow_forwardWhat is the difference in meaning between the terms geneticrecombination and crossing over?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_forward
- Six months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the fetus wereunusually short. Her physician suspected that the babymight have a genetic form of dwarfism called achondroplasia,an autosomal dominant trait occurring with a frequency of about1 in 27,000 births. The parents were directed to a genetic counselorto discuss this diagnosis. In the conference, they learnedthat achondroplasia is caused by a mutant allele. Sometimes itis passed from one generation to another, but in 80 percent ofall cases it is the result of a spontaneous mutation that arisesin a gamete of one of the parents. They also learned that mostchildren with achondroplasia have normal intelligence and a normallife span. What information would be most relevant to concluding whichof the two mutation origins, inherited or new, most likelypertains in this case? How does this conclusion impact on thiscouple’s decision to have more children?arrow_forwardSix months pregnant, an expectant mother had a routineultrasound that showed that the limbs of the fetus wereunusually short. Her physician suspected that the babymight have a genetic form of dwarfism called achondroplasia,an autosomal dominant trait occurring with a frequency of about1 in 27,000 births. The parents were directed to a genetic counselorto discuss this diagnosis. In the conference, they learnedthat achondroplasia is caused by a mutant allele. Sometimes itis passed from one generation to another, but in 80 percent ofall cases it is the result of a spontaneous mutation that arisesin a gamete of one of the parents. They also learned that mostchildren with achondroplasia have normal intelligence and a normallife span. It has been suggested that prenatal genetic testing for achondroplasiabe made available and offered to all women. Wouldyou agree with this initiative? What ethical considerationswould you consider when evaluating the medical and societalconsequences of offering…arrow_forwardResearchers have identified a gene in humans that (when mutated) causes tremors and unstable walking due to neurological problems. This disorder is inherited in an autosomal recessive manner, and the mutant allele isknown to result from a loss-of-function mutation. The same gene hasbeen found in mice, although a mutant mouse version has not beendiscovered. To develop an effective drug therapy to treat this disorderin humans, it would be experimentally useful to have a mouse model.In other words, it would be desirable to develop a strain of mice thatcarry the mutant allele in the homozygous condition. How would youdevelop such a strain?arrow_forward
- Two related forms of muscular dystrophy—Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)—are both recessive, X-linked, single-gene conditions caused by point mutations, deletions, and insertion in the dystrophin gene. Each mutated form of dystrophin is one allele. Of the two diseases, DMD is much more severe. Given your knowledge of mutations, the genetic code, and translation, propose an explanation for why the two disorders differ greatly in severity.arrow_forwardDefine about Tay–Sachs Disease:The Molecular Basis of a Recessive Disorder in Humans ?arrow_forwardImagine that you caught a female albino mouse inyour kitchen and decided to keep it for a pet. A fewmonths later, while vacationing in Guam, you caughta male albino mouse and decided to take it home forsome interesting genetic experiments. You wonderwhether the two mice are both albino due to mutations in the same gene. What could you do to find outthe answer to this question? Assume that both mutations are recessive.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