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- Analysis of X-Linked Dominant and Recessive Traits In the eighteenth century, a young boy with a skin condition known as ichthyosis hystrix gravior was identified. The phenotype of this disorder includes thickening of skin and the formation of loose spines that are sloughed off periodically. This man married and had six sons, all of whom had the same condition. He also had several daughters, all of whom were unaffected. In all succeeding generations, the condition was passed on from father to son. What can you theorize about the location of the gene that causes ichthyosis hystrix gravior?Analysis of X-Linked Dominant and Recessive Traits As a genetic counselor investigating a genetic disorder in a family, you are able to collect a four-generation pedigree that details the inheritance of the disorder in question. Analyze the information in the pedigree to determine whether the trait is inherited as: a. autosomal dominant b. autosomal recessive c. X-linked dominant d. X-linked recessive e. Y-linkedAnalysis 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?
- Achondroplasia is a rare dominant autosomal defect resulting in dwarfism. The unaffected brother of an individual with achondroplasia is seeking counsel on the likelihood of his being a carrier of the mutant allele. What is the probability that the unaffected client is carrying the achondroplasia allele?Analysis of Autosomal Recessive and Dominant Traits Describe the phenotype and primary gene or protein defect of the X-linked recessive disease muscular dystrophy.Fragile-X syndrome causes the most common form of inherited intellectual disability. What is the chromosomal abnormality associated with this disorder? What is the phenotype of this disorder?
- Huntington’s disease, is an incurable neurodegenerative genetic disorder that affectsmuscle coordination and some cognitive functions, typically becoming noticeable inmiddle age. It results from an autosomal dominant gene (H) and there are no carriers ofthe disease. Two parents with Huntington’s disease have an affected child. What is theprobability that their next child will be an unaffected girl if they are not double-dominant?.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.Duchenne muscular dystrophy is a recessive disorder caused by a rare,loss-of-function allele that is located on the X chromosome in humans. Anunaffected woman (i.e., without disease symptoms) who is heterozygousfor the X-linked allele causing Duchenne muscular dystrophy has childrenwith a man with a functional (non-disease-causing) allele. What is theprobability that this couple will have an unaffected son?
- Y-linked Inheritance. Holandric genes are inherited by males only. Assuming that a man with hypertrichosis is married to a woman and they had children 1. what is the probability that his sons inherit the trait? 2. what is the probability that his daughters inherit the trait?Y-linked Amelogenesis imperfecta (A), a congenital disorder that affects the formation of the teeth enamel making affected individuals at higher risk for dental cavities and related problems. X-linked dominant hypophosphatemia (H), a form of rickets or vitamin D deficiency that affects the bones which causes pain, osteoarthritis, and abnormal shapeabnormal shape. X-linked recessive progressive Duchenne muscular dystrophy (m), a muscular disorder, leading to an irreversible gradual wasting of skeletal muscles. Hannah, the same as her mom, is heterozygous for both X-linked traits. While her dad is suffering from both muscular dystrophy and hypophosphatemia. Hannah's husband, Joey has a mom suffering from musculardystrophy regardless of having normal bone conditions. His dad has been blessed with strong muscles and bones, however, he is suffering from amelogenesis imperfecta. What are the complete genotypes of each person?a. Joey's momb. Joey's dadc. Joeyd. Hannah's mome. Hannah's dad f.…A boy with Klinefelter syndrome (47,XXY) is born to a motherwho is phenotypically normal and a father who has the X-linkedskin condition called anhidrotic ectodermal dysplasia. The mother’sskin is completely normal with no signs of the skin abnormality.In contrast, her son has patches of normal skin and patchesof abnormal skin. Using the appropriate genetic terminology, explain theson’s skin phenotype.