Imagine 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.

Imagine 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.

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Description: Imagine 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 wonder

Human Heredity: Principles and Issues (MindTap Course List)

11th Edition

ISBN:9781305251052

Author:Michael Cummings

Publisher:Michael Cummings

Chapter11: Genome Alterations: Mutation And Epigenetics

Section: Chapter Questions

Problem 16QP: Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior...

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A researcher sequences the whole exome of a patientsuffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading causefor simultaneous deafness and blindness. The exomesequence does not show homozygosity for any polymorphisms different from the human RefSeq.a. How could the researcher examine the data alreadygathered to try to find the disease gene, assumingthe sequence is accurate?b. If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencingthe patient’s whole genome. What are the potentialpitfalls of this strategy?
As a genetic counselor, you may face some ethical dilemmas.Imagine that a couple came to your office to discuss potential color blindness in their children.The man is not color blind, but his wife is. They already have one daughter that is color blindand want to know the probability of future children having the disorder. First, you will need toexplain to the couple the difference between sex chromosomes and autosomal chromosomes andthat color blindness is caused by a recessive mutation in a gene found on the X chromosome.Once they understand this, you can then explain to them the probability of other offspring havingthe disorder. What is the dilemma in this case and why might you need to suggest to the couplethat they see a marriage counselor
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Bloom syndrome is an autosomal recessive disease that exhibitshaploinsufficiency. A recent survey showed that people heterozygousfor mutations at the BLM locus are at increased risk of colon cancer.Suppose you are a genetic counselor. A young woman is referred to youwhose mother has Bloom syndrome; the young woman’s father has nofamily history of Bloom syndrome. The young woman asks whether sheis likely to experience any other health problems associated with herfamily history of Bloom syndrome. What advice would you give her?
While conducting field studies on a chain of islands, you decide tokaryotype two phenotypically identical groups of turtles, which arefound on different islands. The turtles on one island have 24 chromosomes,but those on another island have 48 chromosomes. Howwould you explain this observation? How do you think the turtleswith 48 chromosomes came into being? If you crossed the twotypes of turtles, would you expect the offspring to be phenotypicallynormal? Would you expect them to be fertile? Explain.
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. 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…
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?
Recessive maternal effect genes are identified in flies (for example)when a phenotypically normal mother cannot produce any normaloffspring. Because all of the offspring are dead, this female fly cannot be used to produce a strain of heterozygous flies that could beused in future studies. How would you identify heterozygous individuals that are carrying a recessive maternal effect allele? Howwould you maintain this strain of flies in a laboratory over manygenerations?
Most mutations in a diploid organism are recessive. Why?
How can you determine whether a phenotype such as reduced eyes in fruit flies is due to a recessive mutation or is a phenocopy?
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How can you use this piece of information to help you explain to your friends what is the significance of mutations in the emergence of new genetic properties (alleles) that may result (or not) in new phenotypic characteristics? (Recall that not all SNPs affect phenotype.)