After a thorough analysis of the DNA from 150 university students, a small region of the human X chromosome is found to have three SNP sites. Two of those sites have three different variants, while the third site has four. How many different haplotypes does each student have? It is impossible to determine based on this information alone. O 10 or 20 O1 or 2 O3 or 6
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- . SCIENTIFIC INQUIRY The scientists mapping the SNPs inthe human genome noticed that groups of SNPs tended to beinherited together, in blocks known as haplotypes, ranging inlength from 5,000 to 200,000 base pairs. There are as few as fouror five commonly occurring combinations of SNPs per haplotype.Integrating what you’ve learned throughout this chapter and thisunit, propose an explanation for this observationA particular disease is found in a group of South AmericanIndians. During the 1920s, many of these people migrated toCentral America. In the Central American group, the diseaseis never found. Discuss whether or not you think the diseasehas a genetic component. What types of further observationswould you make?when the human genome sequnce was finally completed scientists weresurprised to discovr that the genome contains far fewer genes than expected how many genes are present in the human genome scientists have also found that there are many more different genes in the genome how can this be explained
- Aliens with orang eye color allele (o) is recessive to the dominant black eye color allele (O). The locus of the orange gene from 10 pure breed orange eyes aliens and 10 pure breed black eyes aliens. You notice a difference in the DNA sequence linked to each allele of the orange gene and you decide to use it as a physical marker to follow recombination between this sequence linked to the orange gene. These sequences consist of short tandem repeat (STR) with two different number of repeats, each associated with one of the two orange gene alleles. a PCR test distinguishes the 10 repeat STR and the 6 repeat STR associated with the O and o alleles respectively. Using primers on each side of the STRs you can amplify by PCR this sequence and visualizing the size of the 10 repeat and 6 repeat STRs in an electrophoresis gel. You can follow the two STR sequences (10 and 6 repeats) linkage and recombination frequencies with the orange gene locus. The black eye aliens yield a PCR fragment that is…The best estimate is that the human genome containsfewer than 21,000 genes. However, there is evidencethat human cells produce many more than 21,000 different polypeptides. What processes might account for thisdiscrepancy?Fathers contribute more new point mutations to theirchildren than mothers. You may know from general biology that people have sex chromosomes—two X chromosomes in females and an X plus a Y chromosome inmales. Both sexes have the autosomes (A’s).a. On which type of chromosome (A, X, or Y) wouldyou expect the genes to have the greatest number ofnew mutations per base pair over many generations ina population? Why?b. On which type of chromosome would you expect theleast number of new mutations per base pair? Why?c. Can you calculate the expected number of newmutations per base pair for a gene on the X and Ychromosomes for every one new mutation in a geneon an autosome if the mutation rate in males is twicethat in females?
- The human genome has been sequenced, but we stilldon’t have an accurate count of the number of genes.Why not?. Figure 18-14 presents haplotype data for the G6PD genein a worldwide sample of people.a. Draw a haplotype network for these haplotypes.Label the branches on which each SNP occurs.b. Which of the haplotypes has the most connectionsto other haplotypes?c. On what continents is this haplotype found?d. Counting the number of SNPs along the branchesof your network, how many differences are therebetween haplotypes 1 and 12?In DNA-hybridization experiments on six species of plants in the genus Vicia, DNA was isolated from each of the six species, denatured by heating, and sheared into small fragments (W. Y. Chooi. 1971. Genetics 68:213–230). In one experiment, DNA from each species and from E. coli was allowed to renature. The graph shows the results of this renaturation experiment. Q. Can you explain why the E. coli DNA renatures at a much faster rate than does DNA from any of the Vicia species?
- In DNA-hybridization experiments on six species of plants in the genus Vicia, DNA was isolated from each of the six species, denatured by heating, and sheared into small fragments (W. Y. Chooi. 1971. Genetics 68:213–230). In one experiment, DNA from each species and from E. coli was allowed to renature. The graph shows the results of this renaturation experiment. Q. Notice that, for the Vicia species, the rate of renaturation is much faster in the first hour and then slows down. What might cause this initial rapid renaturation and the subsequent slowdown?A mutation in a coding region of DNA, but that does not change the amino acid, would almostcertainly be considered a(n) ____________ allele.And this kind of mutation is also called ___________ .b. Most nonsense mutations would create __________ alleles.However, describe a situation in which a nonsense mutation would create an isomoprh allele.c. A missense mutation will usually create a(n) _________ allele.However, describe a situation in which a missense mutation would create a neomorph allele.In the Human Genome Project, researchers have collectedlinkage data from many crosses in which the male washeterozygous for molecular markers and many crosses wherethe female was heterozygous for the markers. The distancebetween the same two markers, computed in map units, isdifferent between males and females. In other words, thelinkage maps for human males and females are not the same.Propose an explanation for this discrepancy. Do you think thesizes of chromosomes (excluding the Y chromosome) in humanmales and females are different? How could physical mappingresolve this discrepancy?