EBK CONCEPTS OF GENETICS
12th Edition
ISBN: 9780134818979
Author: Killian
Publisher: YUZU
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Chapter 26, Problem 16PDQ
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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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
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.
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 26 Solutions
EBK CONCEPTS OF GENETICS
Ch. 26 - The ability to taste the compound...Ch. 26 - Determine whether the following two sets of data...Ch. 26 - If the albino phenotype occurs in 1/10,000...Ch. 26 - A prospective groom, who is unaffected, has a...Ch. 26 - In a region of Quebec, Canada, 1 in 22 people are...Ch. 26 - Critics argue that a uniform panel of disorders...Ch. 26 - Others argue that the current testing system...Ch. 26 - HOW DO WE KNOW? Population geneticists study...Ch. 26 - CONCEPT QUESTION Read the Chapter Concepts list on...Ch. 26 - Price et al. [(1999).J. Bacteriol181:2358-2362)...
Ch. 26 - The genetic difference between two Drosophila...Ch. 26 - The use of nucleotide sequence data to measure...Ch. 26 - Prob. 6PDQCh. 26 - What must be assumed in order to validate the...Ch. 26 - In a population where only the total number of...Ch. 26 - If 4 percent of a population in equilibrium...Ch. 26 - Consider a population in which the frequency of...Ch. 26 - If the initial allele frequencies are p = 0.5 and...Ch. 26 - Under what circumstances might a lethal dominant...Ch. 26 - Assume that a recessive autosomal disorder occurs...Ch. 26 - One of the first Mendelian traits identified in...Ch. 26 - Describe how populations with substantial genetic...Ch. 26 - Achondroplasia is a dominant trait that causes a...Ch. 26 - Prob. 17PDQCh. 26 - Prob. 18PDQCh. 26 - A botanist studying water lilies in an isolated...Ch. 26 - A farmer plants transgenic Bt corn that is...Ch. 26 - In an isolated population of 50 desert bighorn...Ch. 26 - To increase genetic diversity in the bighorn sheep...Ch. 26 - What genetic changes take place during speciation?Ch. 26 - Some critics have warned that the use of gene...Ch. 26 - Prob. 25PDQCh. 26 - What are the two groups of reproductive isolating...Ch. 26 - A form of dwarfism known as Ellisvan Creveld...Ch. 26 - The original source of new alleles, upon which...Ch. 26 - A number of comparisons of nucleotide sequences...Ch. 26 - Shown below are two homologous lengths of the...Ch. 26 - Recent reconstructions of evolutionary history are...
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- In 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_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
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