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Mutations in DNA that result in altered proteins can cause
hereditary diseases. Pedigree studies and genetic testing may
clarify the risk of disease. At the chromosome level, nondisjunction
during meiosis can result in gametes with too few or too many
chromosomes, most of which produce inviable offspring.
Imprinting refers to inactivation of alleles depending on which
parent the alleles come from; offspring in whom imprinting occurs
appear haploid for the affected gene even though they are diploid.
During spermatogenesis, is there any difference in outcome between first- and second-division nondisjunction?
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- The gene for the production of eye colour in this species of fruit fly can be expressed aseither normal red-eyes or as brown-eyes. The allele for the normal red eyes is dominant tothat of brown, and is transmitted in normal Mendelian fashion.A gene involved with body colour in this species of fruit fly is located on the non-homologousportion of the X chromosome, and has two alleles, grey and yellow, where the grey allele isdominant to yellow.The two genes are NOT linked.a) Produce a key to clearly show the nature of the alleles associated with the eye colour inthis species of Drosophila, and in each case justify your choice of letters and / or style ofpresentation to best depict the genetics involved.In individuals affected by cystic fibrosis, salt crystals may appear afterperspiration dries up. In addition, the disease causes respiratory disorderswhich can be both debilitating and lethal. It occurs in individuals homozygousfor recessive gene. If 2 normal parents had a daughter with the symptoms ofthis disease, and a normal son, what is the probability that he might be acarrier of the recessive gene?Express answer in fraction form.When does the erasure and reestablishment phase of genomicimprinting occur? Explain why it is necessary to erase an imprintand then reestablish it in order to always maintain imprinting fromthe same sex of parent.
- On average, what proportion of the genome in the following pairs ofhumans would be exactly the same if no crossing over took place? (Forthe purposes of this question only, we will ignore the special case of theX and Y sex chromosomes and assume that all genes are located onnonsex chromosomes.)a. Father and childb. Mother and childc. Two full siblings (offspring that have the same two biological parents)d. Half siblings (offspring that have only one biological parent incommon)e. Uncle and niecef. Grandparent and grandchildMen have XY (or YX) chromosomes and women have XX chromosomes. X-linked recessive genetic diseases (such as juvenile retinoschisis) occur when there is a defective X chromosome that occurs without a paired X chromosome that is not defective. Represent a defective X chromosome with lowercase x, so a child with the xY or Yx pair of chromosomes will have the disease and a child with XX or XY or YX or xX or Xx will not have the disease. Each parent contributes one of the chromosomes to the child. Complete parts a through d below. a. If a father has the defective x chromosome and the mother has good XX chromosomes, what is the probability that a son will inherit the disease? nothing (Type an integer or a decimal. Do not round.) b. If a father has the defective x chromosome and the mother has good XX chromosomes, what is the probability that a daughter will inherit the disease? nothing (Type an integer or a decimal. Do not round.) c. If a mother has one defective x…Table shows that Turner syndrome occurs when an individualinherits one X chromosome but lacks a second sex chromosome.Can Turner syndrome be due to nondisjunction duringoogenesis, spermatogenesis, or both? If a phenotypically normalcouple has a color-blind child (due to a recessive X-linkedallele) with Turner syndrome, did nondisjunction occur duringoogenesis or spermatogenesis in this child’s parents? Explainyour answer.
- A sex-influenced trait in humans affects the length of the index finger. A short allele is dominant in males and recessive in females.Heterozygous males have an index finger that is significantly shorterthan the ring finger. The gene affecting index finger length is locatedon an autosome. A woman with short index fingers has childrenwith a man who has normal index fingers. They produce five children in the following order: female, male, male, female, male. Theoldest female offspring has one daughter with a man who has normal fingers. The youngest male among the five children has childrenwith a woman with short index fingers; they have two sons. Drawthe pedigree for this family. Indicate the phenotypes of every individual (filled symbols for individuals with short index fingers andopen symbols for individuals with normal index fingers)In Neurospora, his2 mutants require the amino acidhistidine for growth, and lys4 mutants require theamino acid lysine. The two genes are on the samearm of the same chromosome, in the ordercentromere - his2 - lys4.A his2 mutant is mated with a lys4 mutant. Draw all ofthe possible ordered asci that could result from meioses in which the following events occurred, accountingfor the nutritional requirements for each ascospore.Ascospores without any copy of a chromosome willabort and die, turning white in the process.a. A single crossover between the centromere and his2b. A single crossover between his2 and lys4c. Nondisjunction during the first meiotic divisiond. Nondisjunction during the second meiotic divisione. A single crossover between the centromere andhis2, followed by nondisjunction during the firstmeiotic divisionf. A single crossover between his2 and lys4,followed by nondisjunction during the firstmeiotic divisionOn rare occasions, an organism may have three copies of achromosome and therefore has three copies of the genes on thatchromosome (instead of the usual number of two copies). Forsuch a rare organism, the alleles for each gene usually segregateso that a gamete will contain one or two copies of the gene. Let’ssuppose that a rare pea plant has three copies of the chromosomethat carries the height gene. Its genotype is TTt. The plant is alsoheterozygous for the seed color gene, Yy, which is found on adifferent chromosome. With regard to both genes, how manytypes of gametes can this plant make, and in what proportions?(Assume that it is equally likely that a gamete will contain oneor two copies of the height gene.)
- A gene that controls the ability to see red and green is located on the X chromosome but not on the Y chromosome. There is a recessive nonfunctional allele for this gene that can cause red-green color blindness if the person possessing it does not also have the dominant normal gene. Consider the case of a carrier mother who is heterozygous for the red-green vision gene and a father who has normal vision. Use XB = normal vision, Xb = color-blind vision. What is the chance the parents would have a color-blind boy? A color-blind girl? What about a girl or boy with normal vision? Redo the Punnett square for a carrier mother (XBXb) and a color-blind father (XbY). Do the chances of having color-blind children change? How?. An allotetraploid species has a genome composed oftwo ancestral genomes, A and B, each of which havea basic chromosome number (x) of seven. In thisspecies, the two copies of each chromosome of eachancestral genome pair only with each other duringmeiosis. Resistance to a pathogen that attacks the foliage of the plant is controlled by a dominant allele atthe F locus. The recessive alleles Faand Fbconfersensitivity to the pathogen, but the dominant resistancealleles present in the two genomes have slightly different effects. Plants with at least one FAallele areresistant to races 1 and 2 of the pathogen regardlessof the genotype in the B genome, and plants with atleast one FBallele are resistant to races 1 and 3 of thepathogen regardless of the genotype in the A genome.What proportion of the self-progeny of an FA Fa FB Fbplant will be resistant to all three races of the pathogen?A woman who sought genetic counseling is found to be heterozygousfor a chromosomal rearrangement between the second andthird chromosomes. Her chromosomes, compared to those in anormal karyotype, are diagrammed on the next page:(a) This woman is phenotypically normal. Does thissurprise you? Why or why not? Under what circumstancesmight you expect a phenotypic effect of such arearrangement?