Keiser University Autosomal Recessive and Dominant Disorders Genetics Discussion

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Autosomal Recessive and Dominant Disorders: Case Study

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Autosomal Recessive and Dominant Disorders: Case Study
Autosomal dominant disorders are caused by the presence of the dominant allele for the
disease on the non-sex chromosome. Polycystic kidney disease is a chronic disease that impairs
kidney function and results in subsequent kidney failure due to the presence of numerous fluidfilled cysts in the patient's kidney. Also, it is an autosomal dominant disorder that is
transmissible from parents to offspring. Hence, the case report presents to illustrate the various
ways that alleles for polycystic kidney disease are inherited by offspring.
Parents with the gene for autosomal dominant polycystic kidney disease (ADPKD) will
transmit the disorder to their children. In this regard, the pregnant patient has a 50% chance of
transmitting the mutated gene for ADPKD to her unborn child due to the family history of
inheritance of the condition. According to Bergmann et al. (2018), the autosomal dominant
inheritance pattern for ADPKD means that each child from the affected has a 50% chance of
inheriting the mutated PKD1 gene that encodes the polycystin-1 protein or the PKD2 gene,
which is present on chromosome 4q21 and encodes polycystin-2 protein. Therefore, this affected
female (Aa) who inherited the PKD1 gene from her mother must have mated with an unaffected
male (aa) to create a 50% chance of transmitting the mutated PKDI or PKD2 gene to her
offspring.
Meanwhile, the offspring of parents without the dominant gene for ADPKD cannot
inherit this disorder from their grandparents. In this regard, the child of the pregnant woman
from the scenario has a 0% chance of inheriting the mutated PKDI or PKD2 gene from the
mother and grandparents. As the inheritance pattern of this autosomal dominant disorder showed,
offspring must have at least a parent with the dominant gen...

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