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Q: f what you have learned in our topic "mendelian genetics"
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- The use of nucleotide sequence data to measure genetic variabilityis complicated by the fact that the genes of many eukaryotesare complex in organization and contain 5' and 3' flankingregions as well as introns. Researchers have compared thenucleotide sequence of two cloned alleles of the y-globin gene from asingle individual and found a variation of 1 percent. Those differencesinclude 13 substitutions of one nucleotide for anotherand three short DNA segments that have been inserted in oneallele or deleted in the other. None of the changes takes placein the gene’s exons (coding regions). Why do you think this isso, and should it change our concept of genetic variation?How has the concept of a reference genome evolved toencompass a broader understanding of genomic variationin humans?In March 2013, the American Journal of HumanGenetics published a report that an AfricanAmerican man who submitted his genome forcommercial genealogical analysis had a Y chromosome whose sequence was very different from thatof other Y chromosomes that had been characterized previously. The investigators then found thatcertain males among the Mbo (an ethnic group inCameroon) shared many of the polymorphisms firstfound in this African-American man. How do youthink these findings would have altered estimates ofwhen a man carrying the MRCA for the human Ychromosome would have lived on the earth?
- In the early 1970s, Igor Dawid and Antonie Blacklerconducted classical experiments that first showed directly the maternal inheritance of mtDNA in vertebrates.Their studies used crosses between two closely relatedspecies of frogs, Xenopus laevis and Xenopus borealis,which have mtDNAs that vary in many nucleotides. Thetechniques they used at the time were not sensitiveenough to detect small amounts of paternal DNA. Whattechniques that are highly sensitive to small amounts ofDNA could be used today? How could you use thesetechniques to determine if paternal mitochondrial DNAwas present in the progeny of the interspecies cross?. In 2015, an international team of scientists assembledthe complete genome sequences of two differentwoolly mammoths. Both specimens were discoveredburied in the permafrost of Siberia, the coldest inhabited place on earth. Through radiocarbon dating, itwas determined that one of the mammoths, found onWrangel Island off the Siberian coast, died about4000 years ago; the other mammoth, found in thetown of Oimyakon, died about 45,000 years ago.Analysis revealed that the genome sequences ofthese two animals differed significantly in the distribution of base pairs at which they are either homozygous or heterozygous. The Wrangel Island woollymammoth had an extreme excess of runs of homozygosity (ROHs), regions in which the animal was homozygous for all of the base pairs. About 23.4% ofthe Wrangel Island animal’s genome was composed ofROHs that were greater than 500 kb in length; someof these ROHs were in excess of 5 Mb long. In contrast, only 0.83% of the Oimyakon animal’s genomeconsisted of…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?
- Tick all the essential steps to demonstrate a genetic linkage between a disease and a molecular marker in humans. identify the alleles of the genetic marker only for diseased individuals in the pedigree enumerate parental type individuals sequence the wild-type and mutant alleles to find the mutation no correct answer calculate a Lod score calculate the recombination frequency between the mutation and the molecular marker identify the alleles of the genetic marker for each individual in the pedigree pedigree analysis cloning the defective gene enumerate recombinant individuals. 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?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?
- 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?Gene dosage is important for a number of genetic phenomenon. Name two and explain their relationship to the genotype and phenotype observed.explain the statement Duplications Provide Extra Gene CopiesThat Can Acquire New Functions