A research team interested in mapping human genes discovered a new restriction lengthpolymorphism (RFLP).a. First, they test the RFLP in a family with the pedigree below. The individuals colored blueare affected by hemophelia, a blood clotting disease.DadMomdaughter1daughter2son1son1On what chromosome is the RFLP found? Explain your answer.b. Next, they genotyped (determined the RFLP polymorphism, type 1 or type 2) of daughterl'sfamily with the results shown below:husbanddaughter1%3DAre the RFLP and the hemophilia gene linked? Explain your reasoning. c. Finally, the research team genotyped hundreds of families affected by haemophilia. Amongthose families, they found many that had a pattern of RFLP like that of daughter1, herhusband and her parents. When they genotyped the children in those families, they foundthe following association between the RFLP and hemophilia:4584654442The numbers at the bottom indicate the number of progeny with that combination ofhemophilia phenotype and RFLP polymorphism found among these families. What is themap distance between the RFLP and the hemophilia gene? Show your work. (hint: thinkabout how this pedigree is similar to the gene mapping experiment with black and vestigialfruit flies)

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Description: A research team interested in mapping human genes discovered a new restriction lengthpolymorphism (RFLP).a. First, they test the RFLP in a family with the pedigree below. The individuals colored blueare affected by hemophelia, a blood clotting disea

Restriction fragment length polymorphisms (RFLPs) uses the variations in DNA sequences of the genome…

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appng polymorphism (RFLP). a. First, they test the RFLP in a family with the pedigree below. The individuals colored blue are affected by hemophelia, a blood clotting disease. Dad Mom daughter1 daughter2 son1 son1 On what chromosome is the RFLP found? Explain your answer. b. Next, they genotyped (determined the RFLP polymorphism, type 1 or type 2) of daughter1's family with the results shown below: husband daughter1 ||

appng polymorphism (RFLP). a. First, they test the RFLP in a family with the pedigree below. The individuals colored blue are affected by hemophelia, a blood clotting disease. Dad Mom daughter1 daughter2 son1 son1 On what chromosome is the RFLP found? Explain your answer. b. Next, they genotyped (determined the RFLP polymorphism, type 1 or type 2) of daughter1's family with the results shown below: husband daughter1 ||

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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Pedigree Analysis Is a Basic Method in Human Genetic: What does OMIM stand for? What kinds of information are in this database?
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?
Consider two maize plants:a. Genotype C/cm ; Ac/Ac+, where cm is an unstableallele caused by a Ds insertionb. Genotype C/cm, where cm is an unstable allele causedby Ac insertionWhat phenotypes would be produced and in whatproportions when (1) each plant is crossed with a basepair-substitution mutant c/c and (2) the plant in part a iscrossed with the plant in part b? Assume that Ac and care unlinked, that the chromosome-breakage frequencyis negligible, and that mutant c /C is Ac+.
With only one exception, the most commonly used STR loci are spread across the human genome,each on a separate chromosome.a. Why is it important to analyze STRs that are all on their own chromosomes?b. What is the exception to this? (i.e., which two loci are on the same human chromosomeand which chromosome are they on?)c. Using the UCSC Genome browser, look up the two loci that you answered in 2.b. one ata time. Include a rough hand-drawing or screenshot of the ideogram (pictograph,example below) of the chromosome and mark the approximate location of each locus.Example:d. Using your answer in 2.c. and your knowledge of the frequency of crossover events onhuman chromosomes (see chapters 5 and 6), in your opinion is the fact that these twoloci are on the same chromosome a problem for forensic genetic analysis? Explain youranswer
As a molecular biologist and horticulturist specializing in snapdragons, you have decided that you need tomake a genomic library to characterize the flowercolor genes of snapdragons.a. How many genomic equivalents would you like tohave represented in your library to be 95% confident of having a clone containing each gene inyour library?b. How do you determine the number of independentclones that should be screened to guarantee thisnumber of genomic equivalents?
Consider two maize plants:a. Genotype C/c m ; Ac/Ac+, where cm is an unstable allele caused by a Ds insertionb. Genotype C/c m, where cm is an unstable allele caused by Ac insertionWhat phenotypes would be produced and in what proportions when (1) each plant is crossed with a basepair-substitution mutant c/c and (2) the plant in part a is crossed with the plant in part b? Assume that Ac and c are unlinked, that the chromosome-breakage frequency is negligible, and that mutant c /C is Ac+.
A research team interested in mapping human genes discovered a new restriction length polymorphism (RFLP). The nature of the polymorphism is shown in the figure below. a) They test the RFLP in a family with the pedigree below. The individuals colored blue are affected by hemophilia, a blood-clotting disease. On what chromosome is the RFLP found?
A cystic-fibrosis mutation in a certain pedigree is due toa single nucleotide-pair change. This change destroys anEcoRI restriction site normally found in this position.How would you use this information in counseling members of this family about their likelihood of being carriers? State the precise experiments needed. Assume thatyou find that a woman in this family is a carrier, and ittranspires that she is married to an unrelated man whoalso is a heterozygote for cystic fibrosis, but, in his case, itis a different mutation in the same gene. How would youcounsel this couple about the risks of a child’s having cystic fibrosis?
The text stated that molecular biologists have developed elegant techniques that can convert any type ofDNA end into any other type of DNA end. In thisproblem, consider genomic DNA that is broken bymechanical shearing into random pieces. Some of theends of these pieces are blunt, some have 5′-overhangs, and others have 3′-overhangs.a. Must the two ends of any one genomic DNAfragment be of the same type?b. Explain why the ends with 5′ or 3′ overhangs arenot sticky.c. Researchers can convert ends with overhangs intoblunt ends using either DNA polymerase (plus thefour dNTPs), or nuclease S1, which degradessingle-stranded regions of DNA but not doublestranded regions. Which kinds of ends with overhangs (5′ or 3′) could be converted into blunt endsusing DNA polymerase? With S1 nuclease?
a To make a genomic library useful for sequencingan entire genome, why would you ordinarily fragment the genomic DNA by mechanical shearingforces like sonication rather than by cutting theDNA with a restriction enzyme?b. Suppose that you wanted to make a genomic library to determine the complete sequence of anewly discovered organism’s genome, but you didnot have a sonicator readily available. Explain howyou could nonetheless use two or more restrictionenzymes to make libraries whose clones could besequenced so that a computer could assemble thegenomic sequence.c. Suppose you only had a single restriction enzymeavailable, and you want to make a single genomiclibrary from which you could assemble the genomic sequence. How might you be able to achievethis goal? (Hint: See Problem 9.) To make this library, would it be preferable to use a restriction enzyme that recognizes a 4-base, 6-base, or 8-basesequence of DNA?
For the given restriction enzyme: BslI (CCNNNNN^NNGG) i) Approximately how many fragments would result from digestion of the human genome (3 × 109 bases) with the enzyme? ii) Estimate the average size of the pieces of the human genome produced by digestion with the enzyme. iii) State whether the fragments of human DNA produced by digestion with the given enzyme would have sticky ends with a 5′ overhang, sticky ends with a 3′ overhang, or blunt ends. iv) If the enzyme produces sticky ends, would all the overhangs on all the ends produced by that enzyme on all fragments of the human genome be identical, or not? The recognition sequence on one strand for the enzyme is given in parentheses, with the 5′ end written at the left. N means any of the four nucleotides; R is any purine—that is, A or G; and Y is any pyrimidine—that is, C or T. ^ marks the site of cleavage. Note that the recognition sites containing Ys and Rs are not always rotationally symmetrical.
A blood stain from a crime scene and blood samples from four suspects were analyzed by PCR using fluorescent primers associated with three STR loci: D3S1358, vWA, and FGA. The resulting electrophoretograms are shown below. The numbers beneath each peak identify the allele (upper box) and the height of the peak in relative fluorescence units (lower box). Solve, (a) Since everyone has two copies of each chromosome and therefore, two alleles of each gene, what accounts for the appearance ofonly one allele at some loci? (b) Which suspect is a possible source of the blood? (c) Could the suspect be identifi ed using just one of the three STR loci? (d) What can you conclude about the amount of DNA obtained from Suspect 1 compared to Suspect 4?