ASSESSMENT Answer the problem. You may use YELLOW PAPER Sex-Linked Inheritance In humans the genes for normal blood clotting is dominating to the gene for hemophilia. This gene is on the X chromosome. A woman heterozygous for the trait (a carrier ) marries a man with hemophilia. What is the probability of the couple having: 1. 1.1 a normal (non carrier) daughter? 1.2 a normal son? 1.3 a hemophilic son?
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- 2. Uniparental disomy is a rare phenomenon in whichonly one of the parents of a child with a recessivedisorder is a carrier for that trait; the other parent ishomozygous normal. By analyzing DNA polymorphisms, it is clear that the child received both mutantalleles from the carrier parent but did not receive anycopy of the gene from the other parent.a. Diagram at least two ways in which uniparentaldisomy could arise. (Hint: These mechanismsall require more than one error in cell division,explaining why uniparental disomy is so rare.)Is there any way to distinguish between thesemechanisms to explain any particular case ofuniparental disomy?2. Uniparental disomy is a rare phenomenon in whichonly one of the parents of a child with a recessivedisorder is a carrier for that trait; the other parent ishomozygous normal. By analyzing DNA polymorphisms, it is clear that the child received both mutantalleles from the carrier parent but did not receive anycopy of the gene from the other parent.a. Diagram at least two ways in which uniparentaldisomy could arise. (Hint: These mechanismsall require more than one error in cell division,explaining why uniparental disomy is so rare.)Is there any way to distinguish between thesemechanisms to explain any particular case ofuniparental disomy?b. How might the phenomenon of uniparental disomyexplain rare cases in which girls are affected withrare X-linked recessive disorders but have unaffectedfathers, or other cases in which an X-linked recessive disorder is transmitted from father to son?c. If you were a human geneticist and believed oneof your patients had a disease syndrome caused….Certain forms of human color blindness are inherited as X-linkedrecessive traits. Hemizygous males are color-blind, but heterozygous females are not. However, heterozygous females sometimeshave partial color blindness.A. Discuss why heterozygous females may have partial color blindness.B. Doctors identified an unusual case in which a heterozygousfemale was color-blind in her right eye but had normal colorvision in her left eye. Explain how this might have occurred.
- The Online Mendelian Inheritancein Man (OMIM) databaseis a catalog of human genesand human disorders that are inheritedin a Mendelian manner. Genetic disordersthat arise from major chromosomalaberrations, such as monosomyor trisomy(the loss of a chromosome orthe presence of a superfluous chromosome,respectively), are not included.The OMIM database, updated daily, is aversion of the book Mendelian Inheritancein Man, conceived and edited by Dr. VictorMcKusick of Johns Hopkins University,until he passed in 2008.The OMIM entries provide links to awealth of information, including DNAand protein sequences, chromosomalmaps, disease descriptions, and relevantscientific publications. In this exercise,you will explore OMIM to answer questionsabout the recessive human diseasesickle-cell anemia and other Mendelianinherited disorders.Exercise I – Sickle-Cell AnemiaIn this chapter, you were introduced torecessive and dominant human traits.You will now discover more about sicklecellanemia as an…Two 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?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?
- Working with the definitions of penetrance and expressivity, analyze the following pedigree and assume that the father of the proband is homozygous for a rare trait. (Consider a rare trait here to be less than 1 in 30,000.) What pattern of inheritance other than autosomal recessive could explain this pedigree? In particular, explain the genotype and phenotype of the proband (arrow).Analysis of X-Linked Dominant and Recessive Traits Suppose a couple, both phenotypically normal, have two children: one unaffected daughter and one son affected with a genetic disorder. The phenotype ratio is 1:1, making it difficult to determine whether the trait is autosomal or X-linked. With your knowledge of genetics, what are the genotypes of the parents and children in the autosomal case? In the X-linked case?Analysis of Autosomal Recessive and Dominant Traits In the following pedigree, assume that the father of the proband is homozygous for a rare trait. What pattern of inheritance is consistent with this pedigree? In particular, explain the phenotype of the proband.
- Analysis of Autosomal Recessive and Dominant Traits Huntington disease is a rare, fatal disease that usually develops in the fourth or fifth decade of life. It is caused by a single autosomal dominant allele. A phenotypically normal man in his twenties who has a 2-year-old son of his own learns that his father has developed Huntington disease. What is the probability that he himself will develop the disease? What is the chance that his young son will eventually develop the disease?Some recessive alleles have such a detrimental effect that they are lethal when present in both chromosomes of a pair. Homozygous recessives cannot survive and die at some point during embryonic development. Suppose that the allele r is lethal in the homozygous rr condition. What genotypic ratios would you expect among the living offspring of the following crosses? a. RRRr b. RrRrHi, I'm having trouble with my study guide for my upcoming genetics exam. If someone could please help with work shown and an explanation it would help so much! Thank you!! 2a. The pedigree below represents inheritance of rare condition. What pattern of inheritance is most consistent with the data? Assign alleles to all individuals to support your answer. If an allele is unknown, assign it a ? symbol. NOTE: Individuals whose phenotype or genotype cannot be determined are assumed to be unaffected and homozygous, unless otherwise indicated. 2b. In addition to the alleles you’ve indicated, describe 2 overall features of the pedigree that make it consistent with your chosen form of inheritance. 2c. Based on your mode of inheritance, what is the probability that the child of couple IV-4 x IV-5 will be affected? Show your work. attached is the pedigree