Essentials of Genetics (9th Edition) - Standalone book
9th Edition
ISBN: 9780134047799
Author: William S. Klug, Michael R. Cummings, Charlotte A. Spencer, Michael A. Palladino
Publisher: PEARSON
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Chapter 22, Problem 17PDQ
Achondroplasia is a dominant trait that causes a characteristic form of dwarfism. In a survey of 50,000 births, five infants with achondroplasia were identified. Three of the affected infants had affected parents, while two had normal parents. Calculate the mutation rate for achondroplasia and express the rate as the number of mutant genes per given number of gametes.
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Achondroplasia is a dominant trait that causes a characteristicform of dwarfism. In a survey of 50,000 births, five infants withachondroplasia were identified. Three of these infants had parentswith achondroplasia, while two did not. Calculate the mutationrate for achondroplasia, and express the rate as the numberof mutant genes per given number of gametes.
Uniparental disomy (UPD) occurs when both chromosomes of a pair or areas from one chromosome in any individual have been inherited from a single parent. Since chromosomal numbers remain the same, cytogenetic analysis will not detect them. Hence, UPD disorders were not described until recently since molecular analysis is required to show that the two chromosomes originated from the same parent.
Read recently published literature regarding UPD, and answer the following questions:
What are the mechanisms that lead to UPD?
Give at least 3 examples of UPD disorders and their clinical consequences:
UPD Disorder
OMIM #
Locus
Type of UPD
Phenotype (include images)
1
2
3
In C. elegans, lon-2 and unc-2 are recessive mutations that are 8 map units apart on the X chromosome. An hermaphrodite who is Lon and Unc is mated to a wild-type male. An F1 hermaphrodite is mated to a wild-type male. What are the expected percentages of the different phenotypes among the male progeny?
Chapter 22 Solutions
Essentials of Genetics (9th Edition) - Standalone book
Ch. 22 - CASE STUDY |An unexpected outcome A newborn...Ch. 22 - CASE STUDY |Anunexpected outcome A newborn...Ch. 22 - CASE STUDY|An unexpected outcome A newborn...Ch. 22 - HOW DO WE KNOW? Population geneticists study...Ch. 22 - Review the Chapter Concepts on page 441. All these...Ch. 22 -
3. Price et al. (1999. J. Bacteriol. 181:...Ch. 22 -
4. The genetic difference between two Drosophila...Ch. 22 - The use of nucleotide sequence data to measure...Ch. 22 - Calculate the frequencies of the AA, Aa, and aa...Ch. 22 - Prob. 7PDQ
Ch. 22 -
8. What must be assumed in order to validate the...Ch. 22 - In a population where only the total number of...Ch. 22 -
10. If 4 percent of a population in equilibrium...Ch. 22 -
11. Consider a population in which the frequency...Ch. 22 - If the initial allele frequencies are p = 0.5 and...Ch. 22 -
13. Under what circumstances might a lethal...Ch. 22 - Assume that a recessive autosomal disorder occurs...Ch. 22 -
15. One of the first Mendelian traits identified...Ch. 22 -
16. Describe how populations with substantial...Ch. 22 - Achondroplasia is a dominant trait that causes a...Ch. 22 -
18. A recent study examining the mutation rates...Ch. 22 - A form of dwarfism known as Ellis–van Creveld...Ch. 22 -
20. List the barriers that prevent interbreeding...Ch. 22 - What are the two groups of reproductive isolating...Ch. 22 - Prob. 22PDQCh. 22 -
23. In a recent study of cichlid fish inhabiting...Ch. 22 - What genetic changes take place during speciation?Ch. 22 - Some critics have warned that the use of gene...Ch. 22 - Comparisons of Neanderthal mitochondrial DNA with...
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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
- Cystic fibrosis in humans is caused by mutations in a single gene and is inherited as an autosomal (non-sex chromosome) recessive trait. An unaffected couple has two children. The first child has cystic fibrosis, and the second child is unaffected. What is the probability that the second child is a carrier (heterozygous) for the mutation that causes the disease? 2/3 1 1/2 3/4arrow_forwardInfants born with Patau syndrome have an extra copy of chromosome 13, which leads to developmental abnormalities such as cleft lip and palate, small eyes, and extra fingers and toes. Another type of genetic disorder, Turner syndrome, results from the presence of only one sex chromosome—an X chromosome. Individuals born with one X chromosome are females exhibiting few noticeable defects until puberty, when they fail to develop normal breasts and internal sexual organs. what is more information about these genetic diseases on how they relate and differ?arrow_forwardIn certain salamanders, the sex of a genetic female can be altered, changing her into a functional male; these salamanders are called sexreversed males. When a sex-reversed male is mated with a normal female, approximately 23 of the offspring are female and 13 are male. How is sex determined in these salamanders? Explain the results of this cross.arrow_forward
- Infants born with Patau syndrome have an extra copy of chromosome 13, which leads to developmental abnormalities such as cleft lip and palate, small eyes, and extra fingers and toes. Another type of genetic disorder, Turner syndrome, results from the presence of only one sex chromosome—an X chromosome. Individuals born with one X chromosome are females exhibiting few noticeable defects until puberty, when they fail to develop normal breasts and internal sexual organs. what is more information about these genetic diseases on how they relate and differ? What are the meiotic events that could lead to the birth of an individual with either Patau syndrome or Turner syndrome as shown above?arrow_forwardIn certain salamanders, the sex of a genetic female can be altered, changing her into a functional male; these salamanders are called sex reversed males. When a sex-reversed male is mated with a normal female, approximately 23 of the offspring are female and 13 are male. How is sex determined in these salamanders? Explain the results of this crossarrow_forwardIn elegans, lon-2 and unc-2 are recessive mutations that are 8 map units apart on the X chromosome. An hermaphrodite who is Lon and Unc is mated to a wild-type male. An F1 hermaphrodite is mated to a wild-type male. What are the expected percentages of the different recombinant phenotypes among the male progeny?arrow_forward
- In man, muscular dystrophy is a condition in which the muscles waste away during early life and may result in a shorter life expectancy. It is due to a sex-linked, recessive gene. A certain couple has five children – three boys (ages 1yr, 3yrs, and 10yrs old) and two girls (ages 5yrs and 7yrs old). The oldest boy shows the symptoms of this disease. You are their family physician and they come to you for advice. What would you tell them about the chances of their other children developing the disease?arrow_forwardConsider an autosomal recessive disease in which an individual must inherit two recessive alleles to display the disease phenotype. What is the probability that a woman who is a heterozygous for the trait and a man who is homozygous for the dominant allele will produce an offspring with the autosomal recessive phenotype? Assume no new mutations occur. Select one 1.) 100% 2.)25% 3.) 0% 4.)50% 5.) More information is neededarrow_forwardConsider a Droscophilia fly with a genotype of Nn XqYY. The dominant allele of the sex-linked gene specifies a black body and the recessive a white body. The recessive autosomal allele specifies hairy bristles while the dominant allele specifies smooth bristles. i)What is the ploidy of this fly? ii) What would the sex of this fly be? iii)What would the phenotype of this fly be with respect to these two loci?arrow_forward
- THE MOST COMMON FORM OF ALBINISM, A TOTAL LACK OF SKIN PIGMENT, IS DUE TO A RARE RECESSIVE GENE LOCATED ON CHROMOSOME 11. TWO PARENTS ARE NORMALLY PIGMENTED, BUT EACH PARENT HAS AN ALBINO SIBLING. NO ONE ELSE IN THEIR FAMILY IS ALBINO GOING BACK AT LEAST TWO GENERATIONS. ASSUMING NO MUTATION, WHAT IS THE PROBABILITY THAT THIS COUPLE WILL HAVE AN ALBINO CHILD? (HINT: WHAT IS THE PROBABILITY THAT 1: THEY ARE BOTH CARRIERS AND 2: THEY BOTH PASS ON A RECESSIVE ALLELE TO THEIR CHILD?)arrow_forwardIn the fruit fly Drosophila melanogaster, a recessive condition called eyeless (ey) significantly interferes with normal eye development. Eyes are either very small or absent. The ey gene is found on chromosome 4, which is the smallest of the four chromosomes in the organism. Individuals with a single copy or three copies of chromosome 4 are viable and can reproduce. A trisomic wild-type male is crossed with a disomic wild-type female: see attached image Determine the chromosome constitution and phenotypic ratios in the offspring. Assume random segregation of chromosomes into gametes.arrow_forwardMutations in DNA that result in altered proteins can causehereditary diseases. Pedigree studies and genetic testing mayclarify the risk of disease. At the chromosome level, nondisjunctionduring meiosis can result in gametes with too few or too manychromosomes, most of which produce inviable offspring.Imprinting refers to inactivation of alleles depending on whichparent the alleles come from; offspring in whom imprinting occursappear haploid for the affected gene even though they are diploid. During spermatogenesis, is there any difference in outcome between first- and second-division nondisjunction?arrow_forward
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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY