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Members of a family are affected by a hereditary inflammatory and immunodeficiency disease. The disease phenotype was due to a mutation in the PLCG2 gene, determined by comparing an affected father and an affected daughter, both heterozygotes, with the homozygous unaffected mother (Zhou et al, 2012). The wild-type protein acts to regulate various immune and inflammatory pathways within the cell. The variant protein is over expressed (more abundant), leading to increased intracellular signaling and leading to increased inflammation and reduced immunity in the affected people. Select all the statements below that can be correctly applied to this system. [Hint: There are FOUR.] O co-dominance O dominant negative mutant allele O gain-of-function mutation O haplosufficent wildtype allele O haploinsuffient wildtype allele O leaky mutant allele O loss-of-function mutation O null mutant allele O partial dominance O simple dominance O the mutant allele is hypermorphic O the mutant allele is neomorphic

Members of a family are affected by a hereditary inflammatory and immunodeficiency disease. The disease phenotype was due to a mutation in the PLCG2 gene, determined by comparing an affected father and an affected daughter, both heterozygotes, with the homozygous unaffected mother (Zhou et al, 2012). The wild-type protein acts to regulate various immune and inflammatory pathways within the cell. The variant protein is over expressed (more abundant), leading to increased intracellular signaling and leading to increased inflammation and reduced immunity in the affected people. Select all the statements below that can be correctly applied to this system. [Hint: There are FOUR.] O co-dominance O dominant negative mutant allele O gain-of-function mutation O haplosufficent wildtype allele O haploinsuffient wildtype allele O leaky mutant allele O loss-of-function mutation O null mutant allele O partial dominance O simple dominance O the mutant allele is hypermorphic O the mutant allele is neomorphic

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Members of a family are affected by a hereditary inflammatory and immunodeficiency disease. The disease phenotype was due to a mutation in the PLCG2 gene, determined by comparing an affected father and an affected daughter, both heterozygotes, with the homozygous unaffected mother (Zhou et al, 2012). The wild-type protein acts to regulate various immune and inflammatory pathways within the cell. The variant protein is over expressed (more abundant), leading to increased intracellular signaling and leading to increased inflammation and reduced immunity in the affected people. Select all the statements below that can be correctly applied to this system. [Hint: There are FOUR.] O co-dominance dominant negative mutant allele O gain-of-function mutation O haplosufficent wildtype allele O haploinsuffient wildtype allele O leaky mutant allele O loss-of-function mutation O null mutant allele O partial dominance O simple dominance O the mutant allele is hypermorphic O the mutant allele is neomorphic
Transcribed Image Text:Members of a family are affected by a hereditary inflammatory and immunodeficiency disease. The disease phenotype was due to a mutation in the PLCG2 gene, determined by comparing an affected father and an affected daughter, both heterozygotes, with the homozygous unaffected mother (Zhou et al, 2012). The wild-type protein acts to regulate various immune and inflammatory pathways within the cell. The variant protein is over expressed (more abundant), leading to increased intracellular signaling and leading to increased inflammation and reduced immunity in the affected people. Select all the statements below that can be correctly applied to this system. [Hint: There are FOUR.] O co-dominance dominant negative mutant allele O gain-of-function mutation O haplosufficent wildtype allele O haploinsuffient wildtype allele O leaky mutant allele O loss-of-function mutation O null mutant allele O partial dominance O simple dominance O the mutant allele is hypermorphic O the mutant allele is neomorphic
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