Genetics

Question 1

Law of segregation

Answer 1

Dominant and recessive traits passed from parent to offspring

Question 2

Law of independent assortment

Answer 2

Traits passed independently of each other

Question 3

Germinal mutations

Answer 3

Occur during egg or sperm formation

Question 4

Somatic mutation

Answer 4

Mutation occurs after conception

Question 5

Chromosomal mutation

Answer 5

Alteration in number of physical structure of a CS

Question 6

Trisomy 21

Answer 6

1:800 births Cardiac defects, intentional malformation, vision abnormalities, hearing loss, respiratory infections, increased risk of Alzheimer’s

Question 7

Klinefelter syndrome

Answer 7

XXYMost common primary hypergonadism

Question 8

Turner syndrome

Answer 8

XO1:10,000Female appearance w short wide chest, neck skin folds, small breastsHypothyroidism, renal cardiac vision abnormalities, diabetes

Question 9

Autosomal dominant

Answer 9

Equal male female distribution Vertical patternOnly one parent needs to be affected

Question 10

Autosomal recessive

Answer 10

Horizontal patternEqual male female distribution Both parents carriers

Question 11

X linked

Answer 11

Males affectedPassed from mother to son

Question 12

Karyotyping

Answer 12

Culture blood amniotic fluid and skin cellsArrange into pairs by length

Question 13

Fluorescent in situ hybridization

Answer 13

Identify where gene falls on chromosome with probes

Question 14

Gregor Mendel

Answer 14

Father of genetics”Blending theory” cross breeding pea plants for single loci traits

Question 15

Fertilization

Answer 15

Initiated meiotic division

Occurs in ampullary region of Fallopian tube

Question 16

Pre-embryonic stage

Answer 16

Week 1
Forms morula the blastula
Ends w implantation

Question 17

Embryonic stage

Answer 17

Day 8-week 8
Germ layers differentiate
Amniotic cavity forms

Question 18

Fetal stage

Answer 18

Week 8- birth

Question 19

Teratogenesis

Answer 19

Causing birth defects
Dose and stage dependent
Critical period between 3-16 weeks

Question 20

Thalidomide

Answer 20

Limb abnormalities: amelia, meromelia, phocomelia 
Deafness
Blindness
Cleft palate 
Congenital heart disease

Question 21

Diethylstibestrol

Answer 21

Used to prevent spontaneous abortion
Moms breast cancer
Daughters vaginal cancer, infertility

Question 22

Vitamin a in pregnancy

Answer 22

Cleft lip and palate
Hydrocephalus
Cardiac deformities

Question 23

Fetal alcohol syndrome disorder

Answer 23

Abnormal brain structure
Decreased impulse control and judgement
Abnormal info transfer
Memory and learning impairment

Question 24

Cocaine and pregnancy

Answer 24

Spontaneous abortion
Placental abruption
Premature birth
iUGR

Question 25

Opioids and pregnancy

Answer 25

Placental abruption
Fetal death
IUGR

Question 26

TORCH infections

Answer 26

Toxoplasmosis 
Other 
Rubella
Cytomegalovirus 
Herpes simplex

Question 27

Alzheimer’s disease

Answer 27

Most common cause of dementia
Amyloid plaques- protein deposits between neurons
Neurofibrillary tangles- clumps of tau protein
Affects memory, language, executive function

Question 28

Early onset Alzheimer’s disease

Answer 28

Between age 30-60
1-5% cases
Autosomal dominant
Presenilin 1-CS 14

Question 29

Late onset Alzheimer’s disease

Answer 29

> 95% cases
Occurs after age 65
20+ genes identified, most common APOE on CS19
APOE epsilon 4 increases risk

Question 30

APOE e4

Answer 30

Increases Alzheimer’s risk 3-8 fold

Question 31

Huntington’s disease

Answer 31

Autosomal dominant 
2.7:100,000 people
Chorea: rapid involuntary movements
Gait abnormalities, loss of insight
CS4