Lecture 3: Nature versus Nurture

Question 1

biological determinism

Answer 1

-you know the information and through learning it comes
out

-Plato

Question 2

social determinism

Answer 2

-you are born with a clean slate and your environment dictates your behavior

Question 3

monogenetic conditions

Answer 3

-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

Question 4

penetrance

Answer 4

• 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)

Question 5

single gene:syndrome diagnosis

Answer 5

• tar

- NF1

Question 6

tar

Answer 6

• low platelet count and absent raidus
• recessive trait (both parents have to be carriers)
• usually has developed as a result of drug use

Question 7

NF1

Answer 7

• 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?

Question 8

something?

Answer 8

• usually have a family history
• classic genetic disorder
• could be due to a small chromosomal deletion

Question 9

familial adenomatous polyposis

Answer 9

• 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

Question 10

may be on the exam: APC

Answer 10

• autosomal gene with a good clear phenotype
• first familiar cancer gene identified
• penetrance is 100%
• offer pre-implantation diagnosis ?

Question 11

Peutz-Jeghers syndrome

Answer 11

• 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

Question 12

teratology

Answer 12

-the study of birth defects caused by in utero exposure to:

a) drugs
b) environmental toxins

Question 13

examples of teratology

Answer 13

• 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

Question 14

women do not realize that they are pregnant in the early phases of pregnancy

Answer 14

• 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)

Question 15

rubella embryopathy

Answer 15

• disseminated infection
• deafness, cataracts
• major reasons for immunization
• level of infection transmission is lower

Question 16

fetal alcohol syndrome

Answer 16

• 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

Question 17

folate

Answer 17

-reduce the chance of having a child with spinobiphida

Question 18

pre-pregnancy counseling

Answer 18

• to know how to cope as a single mom

- what medicines a pregnant women should stay away from

Question 19

PKU

Answer 19

• 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

Question 20

non-disease traits

Answer 20

• 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

Question 21

purple genetic component

Answer 21

• cholesterol has a high genetic component

- birth weight has a low genetic component

Question 22

birth defects caused by teratogenic exposure

Answer 22

-are preventable

Question 23

evidence that a trait may have a genetic component: twin and adoption studies

Answer 23

twin studies:

• monozygotic twins
  
  • same genome and environment
• dizygotic twins
  
  • 50% similar genome and environment

adoption studies:
-same or 50% genome different environment

Question 24

twin studies can quantify how much of a trait has a genomic component

Answer 24

• around 30% of breast cancer has a familial component

- currently clinical genetic testing can account for only around 14%

Question 25

ethical implication

Answer 25

-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