-
What is the difference between genetics vs genomics?
Genetics - study of single genes and their effects
Genomics - study of functions and interactions in the genome
-
What ethnic groups do thse disorders appear more often in?
Tay Sachs
Thalassemias
Phenylketonuria (PKU)
Cystic Fibrosis
Sickle Cell Anemia
Lactase deficiency
Tay Sachs - Ashkenazi Jews
Thalassemias - Mediterranean
Phenylketonuria (PKU) - Norwegians
Cystic Fibrosis - Ashkenazi Jews
Sickle Cell Anemia - African Americans
Lactase deficiency - Chinese
-
The most important nursing function in genetics?
Providing emotional support to the family during all aspects of counseling
-
What is the difference between occurrence vs recurrence risk?
Occurrence - no children yet but are know to be at risk for having them with a genetic disease
Recurrence - producing one or more children with a genetic disease
-
What two key findings were discovered in the human genome project?
1) All humans are 99.9% identical at the DNA level
2) 20,000-25,000 genes make up the human genome
-
What is the difference between a carrier screening test vs predictive test?
Carrier - identifies those who are carriers of a mutation but do not show symptoms
Predictive - clarify genetic status of asymptomatic family members
-
What is the difference between presymptomatic testing vs predispositional testing?
Presym - if a gene mutation is present, symptoms should appear EX: Huntington's Disease
Predis - if a gene mutation is present, it does NOT mean a 100% risk of developing the condition EX: Breast Cancer
-
What is pharmacogenomics?
The use of genetic information to individualize drug therapy
-
What is the primary benefit in pharmacogenomics?
To reduce adverse drug reactions
-
Homologous chromosomes have the same number and arrangement except for?
Male sex chromosomes (XY)
-
What is an allele?
Genes that code for different variations of the same trait
-
What is a karyotype?
The number, form and size of an individual's chromosomes
-
What is the most commonly identified chromosome abnormality in humans?
It is the leading known cause of what problems?
Aneuploidy
Pregnancy and Mental Retardation
-
What is mosaicism?
Mixture of cells, some with a normal number of chromosomes and others missing or having an extra chromosome
-
What is translocation of a chromosome?
What can cause it?
Exchanging chromosome material between two chromosomes
Exposure to drugs, viruses and radiation
-
What two chromosomes are commonly deleted?
Short arm of 5
Long arm of 18
-
What are the most common sex chromosome abnormalities for each gender?
Female - Turner's Syndrome (X)
Male - Klinefelter's Syndrome (XXY)
-
What are symptoms of Turner's syndrome?
- Juvenile genitalia and underdeveloped ovaries
- Short stature
- Webbing of neck
- Lymphedema in hands and feet
-
What are the symptoms of Klinefelter's syndrome?
- Poorly developed secondary sexual characteristics
- Small testes
- Infertile
- Tall
- Effeminate
-
What is the difference between unifactorial vs multifactorial inheritance?
Uni - A single gene controls a certain trait, disorder or defect
Multi - Two or more genes on different chromosomes act together to control a certain trait, disorder or defect
-
The most common congenital malformations result from ___________ inheritance.
Multifactorial
(Influenced by genes AND environment)
-
What are four examples of a multifactorial inheritance?
Cleft lip and palate
Congenital heart disease
Neural tube defects
Pyloric stenosis
-
What are the four types of unifactorial inheritance?
- Autosomal dominant
- Autosomal recessive
- X-linked dominant
- X-linked recessive
-
Autosomal Dominant Inheritance
Skipping of generations?
Genders affected equally?
Expressed with same symptoms?
Examples?
No, parent must have disorder as well
Yes
No, can vary
Huntington's Disease, Marfan Syndrome, Achondroplasia
-
Autosomal Recessive Inheritance
Skipping of generations?
Genders affected equally?
Examples?
Yes, 25% chance of obtaining and can be carriers
Yes
PKU, Sickle Cell, Tay Sachs, CF
-
X-Linked Dominant Inheritance
Genders affected equally?
Examples?
- No, males and heterozygous females
- (females tend to be carriers)
- (heterozygous females have 50% chance of transmitting to offspring)
Rickets, Fragile X syndrome
-
X-Linked Recessive Inheritance
Skipping of generations?
Genders affected equally?
Expressed with same symptoms?
Examples?
- No, males
- (females are carriers)
Hemophilia, Color blindness, Duchenne muscular dystrophy
-
True or False
All congenital disorders are inherited.
False
Some are exposed to teratogens at birth that will influence their genes
-
Inadequate folic acid can cause?
Neural tube defects
-
Malnutrition during pregnancy can cause?
- Low birth weight newborns
- (which makes them more susceptible to infection or learning disabilities)
-
True or False
The embryo is susceptible to teratogens in the first two weeks of development?
False
-
Where does fertilization take place?
Ampulla
(outer third of the uterine tube)
-
What is the zona reaction?
When sperm enters into the ovum and a membrane then surrounds to make other sperm impenetrable
-
What is the difference between a morula vs blastocyst?
Morula - ball of cells produced within 3 days traveling to the uterus with its protective zona
Blastocyst - cavity forms around the morula within 4 days that develops into an embryo
-
What is chorionic villi vs decidua basalis?
CV - projections that obtain oxygen from the mom to the embryo and dispose waste
DB - where maternal blood vessels are for the chorionic villi to feed off of
-
The length of pregnancy is predicted by ___________
The first day of the last menstrual period
-
What are the 3 primary germ layers?
-
Ectoderm develops into...
- Epidermis
- Glands
- Nails
- Hair
- CNS/PNS
- Eye lens
- Tooth enamel
-
Mesoderm develops into...
- Bones
- Teeth
- Muscles
- Dermis
- Connective tissue
- Cardiovascular system
- Spleen
- Urogenital system
-
Endoderm develops into...
Lining of respiratory and digestive tracts
-
What is the time frame for the embryo?
15 days to 8 weeks after conception
-
What is viability?
The capability of the fetus to survive outside the uterus
-
What is the most critical alveolar sufactant require for postnatal lung expansion?
Lecithin
-
What does the L/S ratio determine?
Fetal lung maturity
(2:1 ratio = maturity)
-
When do these systems begin development?
Cardiovascular
Neurologic
Immunologic
Hematopoetic
Endocrine
3 weeks
-
When do these systems begin development?
Respiratory
Hepatic
Gastrointestinal
Musculoskeletal
Integumentary
4 weeks
-
When do these systems begin development?
Renal
5 weeks
-
When do these systems begin development?
Reproductive
7 weeks
-
Dizygotic Twins
Fraternal or Identical?
Same sex?
Fraternal (look different)
Don't have to be
-
Monozygotic Twins
Fraternal or Identical?
Same sex?
Identical
Yes
-
How many hours of ovulation does fertilization occur?
24 hours
-
What is the only immunoglobulin that passes the placenta?
What is its role?
IgG
Passive acquired immunity to specific bacterial toxins
-
By the end of the first trimester the fetus produces what immunoglobulin?
Why is this produced?
IgM
In response to blood group antigens, organisms and some viruses
-
How does the baby obtain IgA?
What kind of immunity does it provide?
By the mothers breastmilk
Passive immunity
|
|
