Two family members are diagnosed with the same genetic disorder but have distinctly different manifestations. What should the nurse consider as being the reason for this occurrence?
1. Imprinting
2. Penetrance
3. New mutation
4. Variable expression
1
Explanation:
1. The expression of a few genetic conditions varies depending on whether the altered gene is inherited from the mother or the father. This differential gene expression is due to genomic imprinting. Imprinting takes place before gametes are formed, when certain genes are chemically marked as having maternal or paternal origin. After conception, the imprint controls gene expression so that only one allele, either maternal or paternal, is expressed. If the unsilenced (active) allele carries a mutation, disease may result and the diseases may be different.
2. Penetrance is the probability that a gene will be expressed phenotypically.
3. A new mutation is when there is no previous family history of a condition.
4. The term expressivity is used to describe the degree to which a phenotype is expressed. When people with the same genetic makeup (genotype) exhibit signs or symptoms with varying degrees of severity, the phenotype is described as showing variable expression.
You might also like to view...
The primary objective of an advance directive is to
a. Give families the right to make health-care decisions for the patient b. Follow the wishes of the person who wrote it c. Prevent abuse of incompetent patients d. Give the state permission to make life-or-death decisions for the patient
A nurse in the ICU is known for working hard to improve the care that she and others provide
When asked what motivates her to work so hard, she explains that she has a picture of what an ideal ICU looks like—a place where patients feel well cared for, where health professionals work seamlessly together, and where nurses derive deep satisfaction from their work. Which element of practice excellence best characterizes this nurse's perspective? A) Values B) Action C) Mastery D) Vision
Factors that facilitate keeping patient information confidential in an electronic health record (EHR) system include:
1. Designing software so that only those who need the information can gain access 2. Requiring providers to log off at the end of the clinical day 3. Keeping a file of the login and password information for each provider in a secure place 4. Having patients sign informed consent documents to have their data on an EHR
A researcher conducts a study to identify the relationship of lifestyle choices to the development of chronic diseases
The researcher surveys subjects and identifies diabetes mellitus, coronary artery disease, and renal disease in study subjects. These measures represent which level of measurement? a. Interval b. Nominal c. Ordinal d. Ratio