Queen Victoria was the world's most famous carrier of hemophilia. Her son, Leopold, and two carrier daughters, Alice and Beatrice, spread the allele fairly widely through the royal families of Europe, Prussia and Russia. Fortunately, no modern monarchs have inherited the allele. Indicate the probable genotype of each of the people below. Remember, hemophilia is a sex-linked trait and shaded individuals have the disease. Albert Victoria Alice Leopold Beatrice Edward George V Alexis Alfonso and Gonzala George VI Waldamar and Heinreich 0,0,0
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- In Figure 6-21, propose a specific genetic explanationfor individual Q (give a possible genotype, defining theallelesTwo mothers give birth to sons at the same time at a busy urbanhospital. The son of mother 1 has hemophilia, a disease causedby an X-linked recessive allele. Neither parent has the disease.Mother 2 has a son without hemophilia, despite the fact thatthe father has hemophilia. Several years later, couple 1 suesthe hospital, claiming that these two newborns were swappedin the nursery following their birth. As a genetic counselor, youare called to testify. What information can you provide the juryconcerning the allegation?Duchenne muscular dystrophy is sex linked and usuallyaffects only males. Victims of the disease become progressively weaker, starting early in life.a. What is the probability that a woman whose brotherhas Duchenne’s disease will have an affected child?b. If your mother’s brother (your uncle) had Duchenne’sdisease, what is the probability that you have receivedthe allele?c. If your father’s brother had the disease, what is theprobability that you have received the allele?
- . Tay-Sachs disease is a rare human disease in which toxic substances accumulate in nerve cells. The recessiveallele responsible for the disease is inherited in a simpleMendelian manner. For unknown reasons, the allele ismore common in populations of Ashkenazi Jews ofeastern Europe. A woman is planning to marry her firstcousin, but the couple discovers that their sharedgrandfather’s sister died in infancy of Tay-Sachsdisease.a. Draw the relevant parts of the pedigree, and showall the genotypes as completely as possible.b. What is the probability that the cousins’ first childwill have Tay-Sachs disease, assuming that all peoplewho marry into the family are homozygous normal?Explain, at the molecular level, why human genetic diseases oftenfollow a simple Mendelian pattern of inheritance, whereas mostnormal traits, such as the shape of your nose or the size of yourhead, are governed by multiple gene interactions.Cystic fibrosis (CF) is an autosomal recessive condition triggered by the overproduction of stickymucus that clogs the lungs and pancreas. It is a life-threatening disease, but medical advances helpedthe afflicted to live through adulthood.The mother of Claudia died from cystic fibrosis, but her father was normal and never had anyrelative with CF. Her fiancé, Marcus, turned out to be a carrier of the CF allele. What are the genotypes of Claudia and Marcus? Claudia: ________________________ Marcus: _____________________ They planned to have four children. What is the probability that: a. all children will be normal b. at least two will be normal
- Cystic fibrosis (CF) is an autosomal recessive condition triggered by the overproduction of stickymucus that clogs the lungs and pancreas. It is a life-threatening disease, but medical advances helpedthe afflicted to live through adulthood. The mother of Claudia died from cystic fibrosis, but her father was normal and never had anyrelative with CF. Her fiancé, Marcus, turned out to be a carrier of the CF allele. What are the genotypes of Claudia and Marcus? Claudia: ________________________ Marcus: _____________________ They planned to have four children. What is the probability that:a. all children will be normal b. at least two will be normal. Among adults with Turner syndrome, it has beenfound that a very high proportion are genetic mosaics.These are of two types: In some individuals, themajority of cells are XO, but a minority of cellsare XX. In other Turner individuals, the majorityof cells are XO, but a minority of cells are XY.Explain how these two patterns of somatic mosaicscould arise.A woman who is heterozygous, Bb, has brown eyes; B (brown) isthe dominant allele, and b (blue) is recessive. One of her eyes,however, has a patch of blue color. Give three different explanationsfor how this might have occurred?
- . For several years, Hans Nachtsheim investigated an inherited anomaly of the white blood cells of rabbits. Thisanomaly, termed the Pelger anomaly, is the arrest ofthe segmentation of the nuclei of certain white cells. Thisanomaly does not appear to seriously burden the rabbits.a. When rabbits showing the Pelger anomaly were matedwith rabbits from a true-breeding normal stock,Nachtsheim counted 217 offspring showing the Pelgeranomaly and 237 normal progeny. What is the geneticbasis of the Pelger anomaly?b. When rabbits with the Pelger anomaly were matedwith each other, Nachtsheim found 223 normal progeny,439 with the Pelger anomaly, and 39 extremely abnormalprogeny. These very abnormal progeny not only haddefective white blood cells, but also showed severedeformities of the skeletal system; almost all of themdied soon after birth. In genetic terms, what do yousuppose these extremely defective rabbits represented?Why were there only 39 of them?c. What additional experimental evidence…In humans, a rare dominant disorder known as nail-patella syndromecauses abnormalities in the fingernails, toenails, and kneecaps.Researchers have examined family pedigrees with regard to thisdisorder and have also examined the blood types of individualswithin each pedigree. (A description of blood genotypes is foundin Chapter 4.) In the following pedigree, individuals affected withnail-patella disorder are shown with filled symbols. The genotypeof each individual with regard to ABO blood type is also shown.Does this pedigree suggest any linkage between the gene thatcauses nail-patella syndrome and the gene that causes blood type?Suppose two parents are healthy carriers of the sickle cell allele. The genotype of each parent is HbAHbS (HbAis the normal allele, and HbS is the sickle-cell allele).How likely is it for a child of these parents to have sickle cell anemia (HbSHbS)?