Review Material

Question 1

Defined as the derangement of function seen in disease

Answer 1

pathophysiology

Question 2

A condition with signs and/or symptoms that is linked to an increased risk of future death or disability

Answer 2

disease

Question 3

study of heredity and its variations

Answer 3

genetics

Question 4

molecular unit of inheritence

Answer 4

gene

Question 5

what are the two purines/

Answer 5

adenine, guanine

Question 6

what are the two pyrimidines

Answer 6

thymine and cytosine

Question 7

Genetic diversity is largely determined by ____.

Answer 7

non-coding genome

Question 8

Disease causing genetic mutations occur mainly in the ___ and sometimes in the non-coding ___. (same word)

Answer 8

exome

Question 9

Where is DNA found?

Answer 9

Nucleus and mitochondria

Question 10

The causes of polyploid involve (2):

Answer 10

polyspermia

failure to expel polar body

Question 11

T/F - polyploidy can result in a live birth

Answer 11

FALSE

Question 12

What are the common presentations of Aneuploidy?

Answer 12

2n-1 monosomy

2n+1 trisomy

Question 13

What abnormality does this represent (and note gender)?

Answer 13

Down-syndrome male

Question 14

What is this disease and gender?

Answer 14

Edwards Syndrome

Female

Question 15

Aneuploidy is associated with non-disjunction in the ___ meiotic division. Causes of this action are said to be either both sporadic and related to ____.

Answer 15

first

older oocytes

Question 16

Monosomy is usually lethal except with this disease

Answer 16

Turner’s Syndrome

Question 17

Autosomal trisomies are usually lethal except for these diseases (3).

Answer 17

13 - Patau’s

18 -Edwards

21 -down sydrome

Question 18

Turner’s Syndrome (45, X) phenotype (4).

List 2/4 special problems

Answer 18

Short, webbed neck, shield chest, female.

amenorrhea, infertile, kidney malformations, congetial heart disease, aortic arch dilation and rupture risk

Question 19

Variable degrees of retardation, increased risk of medical conditions, epicanthal folds, and accelerated aging are common issues in this Trisomy.

Answer 19

Downs Syndrome (Trisomy 21)

Question 20

What trisomy is this defined as…

Severe anomalies, markedly shortened lifespan

10% survive to age 1, 1% to age 10

Answer 20

Edwards Syndrome

Question 21

What trisomy is defined as…

• Microcephaly, severe mental retardation
• Cleft lip & palate
• Ambiguous genetalia
• Shortened lifespan

Answer 21

Patau Syndrome

Question 22

What does this represent?

Hint: Check out chromosome 45

Answer 22

45, XX - Robertsonian Translocation

Question 23

Case- A healthy male (46, XY) and Robertsonian Female (45, XX) what to have a baby. What are the couples risks of having a baby?

Answer 23

• 1/4 chance of miscarriage
• 1/4 chance of normal baby
• 1/4 chance of baby with a balanced translocation
• 1/4 chance of baby with Down Syndrome

Question 24

Chromosone deletion____has this cat-like cry; what is the name of this syndrome?

Answer 24

5p minus

Cri du Chat

Question 25

X, Y Trisomies ## Footnote * Pubertal delay, hypogonadism * Infertility

Answer 25

47, XXY: Klinefelter’s syndrome

Question 26

X, Y Trisomies usually normal with no special phenotype

Answer 26

Triple X Syndrome

Question 27

X, Y Trisomies Usually normal, taller than expected, learning disabilityes possible but normal IQ

Answer 27

no syndrome name, 47 XYY

Question 28

* Genotype: * Excessive triplet repeats (CGG) lead to inactivation of FMR-1 gene * Phenotype: * Mental retardation * Autism * Prominent jaw * Macro-orchidism

Answer 28

Fragile X Syndrome

Question 29

A mutation prevents the production of a sufficient amount of a substance which normally stimulates the transcription of a particular gene

Answer 29

Haploinsufficiency

Question 30

A mutation produces a product which becomes a component of a transcription stimulus and renders it non-functional

Answer 30

Dominant interference

Question 31

•Disorders caused by _______ mutations are more common in inbred populations

Answer 31

recessive

Question 32

Disorders caused by ______ mutations are more common in offspring of older parents

Answer 32

Dominant

Question 33

This is an example of what type of mutation/inheritance?

Answer 33

Autosomal Dominant

Question 34

This is an example of what type of inheritance?

Answer 34

Autosomal Recessive

Question 35

What does this represent?

Answer 35

x-linked dominant

Question 36

What does this represent?

Answer 36

x linked recessive

Question 37

What is Mendel's ratio for a dihybrid cross of an Aa/Bb?

Answer 37

9:3:3:1 ratio

Question 38

In x-linked recessive disorders, if the mom has the disease will the males in her heritage also have the disease?

Answer 38

Yes, 100% yes

Question 39

What does this represent?

Answer 39

Mitochondrial disease inheritance

Question 40

What does this represent?

Answer 40

x-linked dominant male \*note females will present with the disease in a male to female inheritance

Question 41

Common forms of mitochondrial disease

Answer 41

encephalopathy myopathy sensory loss lactic acidosis

Question 42

What does this represent?

Answer 42

rare genetic mutation lacking family history

Question 43

What are multifactorial inheritance examples in characteristics/phenotypes and disease?

Answer 43

height, skin color, intelligence, etc congenital and adult onset

Question 44

The key feature of ___ is that recurrence risk increases with the number of affected individuals in a family.

Answer 44

Multifactorial Inheritance of Diseases

Question 45

Congenital Disorders with Multifactorial Inheritance

Answer 45

* Cleft palate * Congenital heart defects * Neural tube defects * Pyloric stenosis Clubfoot

Question 46

What are the four layers of gene expression control?

Answer 46

* Environmental factors (Jacob-Monod model) * Non-coding DNA control * Epigenetic control * Post-transcription control

Question 47

•Two or more cell lines with different genotypes in one individual

Answer 47

mosaicism

Question 48

Individual with two or more cell lines derived from different zygotes

Answer 48

chimera

Question 49

•Abnormal embryo development (fusion) of fraternal (non-identical twins)

Answer 49

true chimera

Question 50

Medically induced chimeras...

Answer 50

bone marrow transplant tissue transplant blood transfusion pregnancy

Question 51

three main sources of mutations

Answer 51

spontaneous DNA degratdations replication eorros environmental trauma

Question 52

T/F; somatic cell mutations are inheritable

Answer 52

FALSE

Question 53

Types of DNA Mutations (4)

Answer 53

* Silent * Missense * Nonsense * Frameshift

Question 54

3 Mitigating Factors for Mutations

Answer 54

* Genetic code redundancy * Protein structure redundancy * DNA repair mechanisms

Question 55

•\>30 genes involved in repair process

Answer 55

•Tumor suppressor genes