Members of a family are affected by a Oco-dominance hereditary inflammatory and Odominant negative mutant allele 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 Ogain-of-function mutation O haplosufficent wildtype allele Ohaploinsuffient wildtype allele homozygous unaffected mother (Zhou et al, 2012). The wild-type protein acts to regulate various immune and O leaky mutant allele inflammatory pathways within the cell. The variant protein is over expressed Oloss-of-function mutation (more abundant), leading to increased Onull mutant allele
Members of a family are affected by a Oco-dominance hereditary inflammatory and Odominant negative mutant allele 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 Ogain-of-function mutation O haplosufficent wildtype allele Ohaploinsuffient wildtype allele homozygous unaffected mother (Zhou et al, 2012). The wild-type protein acts to regulate various immune and O leaky mutant allele inflammatory pathways within the cell. The variant protein is over expressed Oloss-of-function mutation (more abundant), leading to increased Onull mutant allele
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
O co-dominance
hereditary inflammatory and
O dominant negative mutant allele
immun odeficiency disease. The disease
phenotype wa s due to a mutation in the
PLCG2 gene, determined by comparing
an affected father and an affected
O gain-of-function mutation
O haplosufficent wildtype allele
daughter, both heterozygotes, with the
homozygous unaffected mother (Zhou
et al, 2012). The wild-type protein acts
O haploinsuffient wildtype allele
O leaky mutant allele
to regulate various im mune and
inflammnatory pathways within the cell.
The variant protein is over expressed
O loss-of-function mutation
(more abundant), leading to increased
Onull mutant allele
intracellular signaling and leading to
O partial dominance
increased inflammation and reduced
immunity in the affected people. Select
O simple dominance
all the statements below that can be
correctly applied to this system. [Hint:
There are FOUR.]
O the mutant allele is hypermorphic
O the mutant allele is neomorphic](/v2/_next/image?url=https%3A%2F%2Fcontent.bartleby.com%2Fqna-images%2Fquestion%2F20606451-259a-48a9-a8c1-a1042cf331b7%2F567bb179-5ac3-412b-947e-519b49a73df6%2F8dsfk2r_processed.jpeg&w=3840&q=75)
Transcribed Image Text:Members of a family are affected by a
O co-dominance
hereditary inflammatory and
O dominant negative mutant allele
immun odeficiency disease. The disease
phenotype wa s due to a mutation in the
PLCG2 gene, determined by comparing
an affected father and an affected
O gain-of-function mutation
O haplosufficent wildtype allele
daughter, both heterozygotes, with the
homozygous unaffected mother (Zhou
et al, 2012). The wild-type protein acts
O haploinsuffient wildtype allele
O leaky mutant allele
to regulate various im mune and
inflammnatory pathways within the cell.
The variant protein is over expressed
O loss-of-function mutation
(more abundant), leading to increased
Onull mutant allele
intracellular signaling and leading to
O partial dominance
increased inflammation and reduced
immunity in the affected people. Select
O simple dominance
all the statements below that can be
correctly applied to this system. [Hint:
There are FOUR.]
O the mutant allele is hypermorphic
O the mutant allele is neomorphic
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