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- Figure 19-18a shows a plot of P values (represented bythe dots) along the chromosomes of the dog genome.Each P value is the result of a statistical test of association between a SNP and body size. Other than the clusterof small P values near IGF1, do you see any chromosomalregions with evidence for a significant association between a SNP and body size? ExplainFamilial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?Pedigree Analysis Is a Basic Method in Human Genetics Using the pedigree provided, answer the following questions. a. Is the proband male or female? b. Is the grandfather of the proband affected? c. How many siblings does the proband have, and where is he or she in the birth order?
- Which of the following statements regarding gene duplication are FALSE? Select ALL that apply.Susan’s grandfather was deaf, and passed down a hereditary form of deafness within Susan’s family as shown in Figure Q19–12.A. Is this mutation most likely to be dominant or recessive?B. Is it carried on an autosome or a sex chromosome? Why?C. A complete SNP analysis has been done for all of the 11 grandchildren (4 affected, and 7 unaffected). In comparing these 11 SNP results, how long a haplotype block would you expect to find around the critical gene? How might you detect it?Please answer all parts along with the reason. I'll definitely give a like. Thank you in advance! 1A) From the cross Ab/aB x ab/ab, what is the recombination frequency if the progeny numbers are 17 AB/ab, 72 Ab/ab, 68 aB/ab, and 21 ab/ab? 1B)In human gene mapping, a LOD score is calculated to see if a gene causing a rare disease is linked to a known SNP. The LOD score is -4. This means that 1C) A three-point testcross is used to determine the order of three linked genes. The following crossover progeny result: single crossovers, double crossovers, and no crossovers. To determine the order, the no-crossover progeny must be compared to what other class of progeny?
- a. Which progeny are the parental types? How can you tell?b. Which progeny are the recombinants? How can you tell?c. Do the results of this test cross support linkage of the traits? What is the % recombination?The Figueroa family has a genetically inherited trait called ocular albinism—lack of pigment in the eye—which is caused by a 516-bp deletion in an exon of a single gene. DNA for this gene was amplified from each member of the family and run on the gel shown below. The thickness of the band indicates the relative amount of DNA. Use the pedigree and the gel to determine the most likely mode of inheritance for this disease. a) x-linked dominant b)x-linked recessive c)autosomal dominant d) autosomal recessive e) cant be determinedPlease label the tetrad type in the table as PD (parental ditype), NPD (non parental ditype) or T (tetratype) and answer the following questions a) Are the genes linked? Please explain SPECIFICALLY how you can distinguish between linked and unlinked genes in this instance. b) If the two genes are linked, calculate the % recombination between ser and thr. Show the formula used, as well as all of your calculations. c) Draw a single map illustrating the arrangement of the two genes on the chromosome with respect to each other and to the centromere of the chromosome. Make sure to map ALL three distances
- A. Look at the pedigree, and DISREGARD individual II-8 for the moment. Is the pattern of inheritance of Unetan syndrome dominant or recessive? You may assume that the gene is FULLY-PENETRANT in this family. Please give two specific reasons that support your conclusion. B. Now, looking at BOTH the pedigree AND at the Southern blot, is this trait autosomal, X-linked, or Y-linked? Please give two specific reasons that support your conclusion. Once again, disregard II-8 for the moment. One of your two reasons must refer specifically to evidence present in the Southern blot. C. Define the gene alleles associated with Unetan syndrome. Your alleles MUST be consistent with the pattern of inheritance, AND your genetic notation must be consistent with that used throughout the course. Unetan syndrome allele: ________ Normal allele: ________A SNP that can exist as a C or G is associated with a human disease. The genotypic odds ratio of the homozygote CC relative to the homozygote GG is 2.2, which indicates that a)both CC and GG individuals are equally likely to get the disease because 2.2 is not a significant value. b)heterozygotes are 2.2 times as likely to get the disease as GG homozygotes. c) CC homozygotes are 2.2 times as likely to get the disease as GG homozygotes. d) CC homozygotes are 2.2 times less likely to get the disease as GG homozygotes.The drug ivacaftor has recently been developed totreat cystic fibrosis in children with the rare G551Dmutant allele of CFTR.a. Do you think that ivacaftor would be effective onlyin patients homozygous for the G551D mutation,or might it work as well in compound heterozygotes in which one copy of chromosome 7 hadG551D and the other copy a different allele ofCFTR, such as the more prevalent allele ΔF508?(The protein encoded by G551D folds up properlyand inserts into the cell membrane, but is inefficient in chloride ion transport. Ivacaftor increasesthe efficiency of G551D’s ion transport. TheΔF508 protein does not fold up properly and therefore does not get inserted into the cell membrane.)b. Why do you think ivacaftor would be more effectivein children than in older cystic fibrosis patients?c. The scientists who developed ivacaftor had a modelfor cystic fibrosis: a line of cells that grow in culture and that are homozygous for G551D. Thesecells accumulate mucus at their surfaces that…