Lecture 3: Nature versus Nurture Flashcards
biological determinism
-you know the information and through learning it comes
out
-Plato
social determinism
-you are born with a clean slate and your environment dictates your behavior
monogenetic conditions
-conditions caused by a single gene
-100% penetrance
during life
-all people with the genetic mutation will develop the disease
-all people with genetic fault will have same clinical features
-developmental disorders
penetrance
- to do with how a person who has a pathogenic mutation, manifest with it
- how likely are you to carry something and then show signs of it
- carry a fault in gene and have a mild form of the disease(TB)
- developmental conditions often picked up early (physical signs)
single gene:syndrome diagnosis
- tar
- NF1
tar
- low platelet count and absent raidus
- recessive trait (both parents have to be carriers)
- usually has developed as a result of drug use
NF1
- common
- have skin signs
- increase risk of breast and some brain cancer
- single mutation that causes lost of proteins and then the disease
- no family history?
something?
- usually have a family history
- classic genetic disorder
- could be due to a small chromosomal deletion
familial adenomatous polyposis
- 30% have a family history
- common in men over 60
- too many epithelial
- remove entire colon at the age of 18
- pileup will become malignant at age 40
- benign legion at the back of the cornea(sign of legion)
- get large growth in bones particularly the mandibles (sign of condition)
- also have desmoids
may be on the exam: APC
- autosomal gene with a good clear phenotype
- first familiar cancer gene identified
- penetrance is 100%
- offer pre-implantation diagnosis ?
Peutz-Jeghers syndrome
- single gene disorder
- increase risk of cancer
- hypopigmentation of the lip (sign of condition)
- develop pileup but chance of cancer is less
- increase risk in ovarian, pancreatic, breast, and gastric cancer
teratology
-the study of birth defects caused by in utero exposure to:
a) drugs
b) environmental toxins
examples of teratology
- drugs given to pregnant mothers that effected the fetus
- reduce nausea-phalidimide (child has limb defects)
- infections
- maternal diabetes (high glucose)
- environmental toxins( methylmercury)
- hyperthermia
- ionizing radiation
- recreational drugs
women do not realize that they are pregnant in the early phases of pregnancy
- embryo more susceptible to teratogenosis when a female does not know that she is pregnant
- temperal nature to teratogens
- exposure to teratogenosis and where the child was in development should be limited to time frame where the organ was developed-biological plausible mechanism underling it
- more exposure more defect (temporarily)
rubella embryopathy
- disseminated infection
- deafness, cataracts
- major reasons for immunization
- level of infection transmission is lower
fetal alcohol syndrome
- has a dose effect
- more alcohol a pregnant women have the more defects in the baby
- have elephant feature (small size, lower weight)
- classical cases
folate
-reduce the chance of having a child with spinobiphida
pre-pregnancy counseling
- to know how to cope as a single mom
- what medicines a pregnant women should stay away from
PKU
- child is only at risk of PKU when the child is born and cannot break down their own phenylalanine
- pregnant women with PKU will transfer the disease on to their offspring
non-disease traits
- rare conditions
- cause great deal of burden in the pop
- some may have more of a genetic than environmental impact
- can use twin and adoption studies
- genome wide association studies
purple genetic component
- cholesterol has a high genetic component
- birth weight has a low genetic component
birth defects caused by teratogenic exposure
-are preventable
evidence that a trait may have a genetic component: twin and adoption studies
twin studies:
- monozygotic twins
- same genome and environment
- dizygotic twins
- 50% similar genome and environment
adoption studies:
-same or 50% genome different environment
twin studies can quantify how much of a trait has a genomic component
- around 30% of breast cancer has a familial component
- currently clinical genetic testing can account for only around 14%
ethical implication
-lawyers will argue that since their clients carry the genetic mutations that have been associated in research literature with violent behavior that their client should be sent to a psychiatric facility over jail as their clients could not control the behavior
