Genetics Flashcards
a) Genetics?
b) Genomics?
a) Study of genes and their role in inheritance
Genetics-遺伝学
genes-遺伝子
inheritance-遺伝
b) Study of how genes interact and influence people’s biological and physical characteristics
遺伝子のメカニズムを解明するために、関連の遺伝子を網羅的に同定し、その機能や相互作用の解析を行います
a) Pharmacogenetics?
b) Pharmacogenomics?
a) Study of the variability of drug metabolism related to variations in single genes
ある個人の遺伝子がその人の薬物に対する反応にどのように影響するかについて研究
b) Study of variability of drug response in relation to variations in and interactions of multiple genes or the person’s genome
個々人の薬に対する反応と遺伝子との関連について調べる研究
The most common classification of genetic disorder
a) Germiline mutations
b) Acquired mutations
a) inherited
b) Error in replication, environmental influence
something happen,but not inhertied
Autosomal dominant?
Males and females are affected equally
More common than recessive disorders and usually less severe
If positive, they will develop the disease so they can plan for the future
50% chance for each child be effected
Huntington’s disease
affected in successive generations
一組の遺伝子の一方に変異があれば発症する場合
Autosomal Recessive?
Males and females equally affected
need both recessive alleles to be affected by both parent
have a 25% chance of being affected and a 50% chance of being carriers
No family history of the disease
Cystic fibrosis
父親と母親ともに変化を持った遺伝子を受け継いだときに発症する遺伝
a) Xlinked?
B) Ylinked?
a)
Most affected persons have unaffected parents
Affected persons are usually male
Daughters of affected males are carriers
Sons of affected males are unaffected (unless the mother is a carrier)
b)
Y-linked
Affected fathers transmit only to sons
女性はXX、男性はXY
a) Screening?
b) Testing?
a) first level of detection
no indication needs(family HS)
b) focused on specific reason(s/s or family history)
something not right so we want to test it
Cause of cell injury?
What are they?
Hypoxia(most common!!)
Extremes of temperature
Mechanical forces(trauma)
Radiation injury
Chemical injury
Drug
Infectious agents
A woman with ovarian cancer would like to know which kind of genetic testing could help prevent her daughters from getting ovarian cancer. What should the nurse tell this patient?
a) Forensic testing
b) Carrier screening
c) Predictive testing
d) Prenatal diagnostic
c
A couple is delivering their first child. What newborn genetic screening should the nurse teach them about? SATA
a) Phenylketonuria
b) Dienoyl-CoA reductase
c) Polycystic kidney disease
d) Congenital hypothyroidism
e) Hereditary nonpolyposis colorectal cancer syndrome
a,d
Newborn genetic screening for phenylketonuria and congenital hypothyroidism is universally required by law in the United States.
A patient with a parent who has polycystic kidney disease does not want to have genetic testing done for polycystic kidney disease because they are worried that health insurance will be discontinued if genetic abnormalities are found. Based on the nurse’s knowledge of the Genetic Information Nondiscrimination Act (GINA), what should the nurse teach the patient?
a) GINA should protect her from this happening.
b) GINA does not extend to cover preexisting conditions.
c) GINA will only protect her after she is diagnosed with polycystic kidney disease.
d) GINA health coverage nondiscrimination protection also extends to life insurance.
a
GINA prohibits discrimination in health care coverage and employment based on genetic information but does not extend to life insurance, disability insurance, or long-term care insurance.
A young mother is worried that her female baby will have hemophilia because the baby’s father has it. How should the nurse explain this genetic disorder to the young mother?
a) Nearly all affected people are male
b) Daughters of affected males will have a 50% chance of being carriers
c) The daughter has a 25% chance of being affected if the mother is not a carrier
d) If the mother is a carrier, the child will have a 25% chance of having hemophilia.
d
Because hemophilia is an X-linked recessive genetic disorder. Whereas mothers always contribute an X chromosome to their offspring, fathers contribute X to their female children and Y to their male children. If the mother is a carrier, there is a 25% chance that the daughter could have hemophilia and a 25% chance that she will be a carrier. If the mother is not a carrier, the daughter will have a 100% chance of being a carrier from her father’s affected X chromosome.
The parents of a child diagnosed with cystic fibrosis ask the nurse what happened to cause this disease. What is the best response by the nurse?
a) It is X-linked, so it was passed to the child from the mother.
b) It is a chromosome disorder that usually skips a generation.
c) It is autosomal recessive, so both copies of the gene are abnormal.
d) It is autosomal dominant, so the abnormal gene allele is expressed instead of the normal allele.
c
Cystic fibrosis is an autosomal recessive disorder, which means both the genes in the pair on the chromosome are abnormal.
Two adult children of a parent who has Huntington’s disease cannot agree on whether or not to be tested for Huntington’s disease because of the cost. What assistance should the nurse give when discussing presymptomatic genetic testing?
a) “If one child has the disease, the other will as well.”
b) “A positive genetic mutation increases your risk of the disease.”
c) “If there is a positive result, the patient will develop the disease.”
d) “You can use a direct-to-consumer genetic test to make future life decisions.”
c
With the autosomal dominant Huntington’s disease, if the result is positive, the patient will develop the disease manifestations and can plan accordingly for their future. There is a 50% chance for each child to be affected.
A preschool child was diagnosed with type 1 diabetes. The parent says that no one else in the family has had diabetes and asks why the child would get it. How should the nurse explain this complex disease?
a)It is a congenital disorder that the child was born with.
b)It is a single-gene disorder, meaning only one gene mutation caused the disease.
c)It is a multifactorial genetic disorder caused by one or more genes and environmental factors.
d)It was an acquired genetic mutation, meaning that the child’s offspring will not develop diabetes.
c
Type 1 diabetes is a multifactorial genetic disorder related to one or more gene mutations and potentially various environmental factors that alter the way the gene(s) work. Type 1 diabetes is not a single gene disorder nor an acquired genetic mutation.
