GM 01: Intro

Question 1

Precision medicine involves tailoring (X) for each (community/family/individual) based on their (Y).

Answer 1

X = treatment;
Individual;
Y = genomic health profile

Question 2

In Mendelian gene disorders, the examples of (common/rare) variants of (single/multiple) gene(s) having large effects on particular disease also have predictable modes of inheritance.

Answer 2

Rare; single

Question 3

T/F: Complex diseases are highly prevalent, compared to Mendelian disorders.

Answer 3

True

Question 4

T/F: Common complex diseases exclusively result from multiple contributing disease genes.

Answer 4

False - also behavioral, environmental factors, etc.

Question 5

T/F: Any individual contributing gene in common, complex disease would be predicted to have small effect size and reduced penetrance on its own.

Answer 5

True

Question 6

(Single/oligo/poly)-genic disorders are more prevalent than (Single/oligo/poly)-genic disorders, which are more prevalent than (Single/oligo/poly)-genic disorders.

Answer 6

Polygenic;
Oligogenic;
Single gene

Question 7

(Single/oligo/poly)-genic disorders have the greatest number of contributing loci.

Answer 7

Polygenic

Question 8

Sickle cell anemia is an example of disorder resulting from (X) mutation in (Y) region of gene. The gene is responsible for (Z).

Answer 8

X = missense 
Y = exon
Z = producing beta chain of Hb

Question 9

T/F: In sickle cell anemia, heterozygotes don’t typically experience symptoms of the full disease.

Answer 9

True - except maybe under low PO2 conditions

Question 10

In sickle cell anemia, heterozygote individuals have which allele?

Answer 10

Both HbA and HbS (CO-DOMINANT)

Question 11

Neurofibromatosis is the result of (X) mutation in (Y) region of (Z) gene.

Answer 11

X = nonsense;
Y = exon
Z = NF1

Question 12

In Neurofibromatosis, the (X) gene (gains/loses) function (Y). This then leads to (Z).

Answer 12

X = NF1;
loses
Y = inactivating Ras
Z = excess growthin Schwann cells

Question 13

What’s the inheritance pattern of neurofibromatosis?

Answer 13

Autosomal dominant

Question 14

BRCA1 gene inactivation is commonly a result of (X) mutation in (Y) region of gene.

Answer 14

X = franeshift
Y = exon

Question 15

CF is the result of (X) mutation in (Y) region of (Z) gene.

Answer 15

X = deletion (3 NT)
Y = exon
Z = CFTR

Question 16

Phenylketonuria is the result of mutation in (Y) region of (Z) gene.

Answer 16

Y = intron;
Z = PAH

Question 17

CF is inherited in (dominant/recessive) fashion.

Answer 17

Recessive

Question 18

Phenylketonuria is inherited in (dominant/recessive) fashion.

Answer 18

Recessive

Question 19

(CF/Phenylketonuria/beta-thalassemia) disrupts normal splicing.

Answer 19

Phenylketonuria and beta-thalassemia

Question 20

The central issue in beta thalassemia is (increase/decrease) in amount of (X) produced and, thus, excess (Y).

Answer 20

Decrease;
X = beta-globin
Y = alpha-globin

Question 21

Describe the concept of allelic heterogeneity.

Answer 21

Diverse range of alleles of particular gene can cause a single phenotype

Question 22

T/F: In allelic heterogeneity, different alleles are associated with identical clinical presentation.

Answer 22

False - different alleles associated with different degrees of clinical severity

Question 23

Prenatal human development divided into which three main phases?

Answer 23

1. Pre-implantation and implantation
2. Embryonic period
3. Fetal period

Question 24

Embryonic stem cells are (toti/pluri/multi)-potent. But (X) layers formed during (Y) period of development are (toti/pluri/multi)-potent.

Answer 24

Totipotent;
X = germ
Y = embryonic
Pluripotent

Question 25

Organogenesis begins in which phase of human development?

Answer 25

Embryonic

Question 26

During (X) phase of human development, (Y), such as Wnt and Shh, are produced in localized area and diffuse out to form concentration gradient. What's their function?

Answer 26

``` X = embryonic; Y = morphogens ``` Long-distance signaling

Question 27

(X) are key players in axis specification during human development. This provides (Y) information within the (fetus/embryo).

Answer 27

X = morphogens; Y = polarity and directional Embryo

Question 28

Homeotic (Hox) genes are (X) that play key role in (Y) in developing embryo.

Answer 28

``` X = transcription factors; Y = controlling pattern formation (segmental body plan) ```

Question 29

In atypical morphology, (X) is a primary morphological defect that results from intrinsic abnormality (such as genetic mutation).

Answer 29

X = malformation

Question 30

In atypical morphology, (X) is an abnormality caused by biomechanical forces.

Answer 30

X = deformation

Question 31

In atypical morphology, (X) is the breakdown of normal fetal tissue.

Answer 31

X = disruption

Question 32

In atypical morphology, (X) is defect where cells are abnormally organized in particular tissue/cell type.

Answer 32

X = dysplasia

Question 33

In atypical morphology, (X) is a group of abnormalities that are frequently associated, share common etiology, and are recognized as specific entity.

Answer 33

X = syndrome

Question 34

Cleft lip/palate is example of which type of atypical morphology?

Answer 34

Malformation

Question 35

Partial limb amputation due to vascular insufficiency is which type of atypical morphology?

Answer 35

Disruption

Question 36

Neurofibromatosis is which type of atypical morphology?

Answer 36

Dysplasia

Question 37

Osteogenesis imperfecta is which type of atypical morphology?

Answer 37

Dysplasia

Question 38

(X) is the most common cause of human dwarfism. It's a mutation in (Y), which results in (Z).

Answer 38

``` X = achondroplasia; Y = receptor for FGF Z = receptor activation (without ligand), leading to inhibition of chondrocyte proliferation ```

Question 39

Achondroplasia is inherited in (X) pattern with (gain/loss) of function.

Answer 39

X = autosomal dominant; | Gain

Question 40

What's a "recessive embryonic lethal" mutation? Give an example.

Answer 40

Fetus that's homozygous for mutation won't survive to term. Ex: achondroplasia

Question 41

Holoprosencephaly (HPE) is congenital (X) defect that results from (genetic/environmental) causes.

Answer 41

X = brain; Both genetic and environmental

Question 42

In Holoprosencephaly (HPE), identical mutations in (X) gene can result in vastly different phenotypes. What is this phenomenon called?

Answer 42

X = Sonic Hedgehog Gene (SHH) Variable expressivity

Question 43

Mutations in multiple genes can cause the same clinical phenotype. What is this phenomenon called? Give an example.

Answer 43

Genetic/locus heterogeneity; Ex: Holoprosencephaly (HPE) caused by mutation in SHH, TGIF, SIX3, ZIC2

Question 44

(X) defect can be caused by ingestion of cyclopamine, which is produced by corn lilies.

Answer 44

X = Holoprosencephaly (HPE)

Question 45

Mutation in HOXD13 gene results in (syndactaly/polydactaly). Disorder severity and penetrance intensify with (X).

Answer 45

Both; | X = increasing repeat expansions

Question 46

T/F: Synpolydactaly demonstrates anticipation.

Answer 46

False

Question 47

Synpolydactaly: Homozygous individual occasionally present with (more/less/equally) severe phenotypes. Which phenomenon is seen in this disorder?

Answer 47

``` More; Incomplete dominance (difference in dosage) ```

Question 48

Damaging exposure events that occur during (X) phase of human development are typically catastrophic.

Answer 48

X = pre-implantation and implantation

Question 49

When is the critical period for given tissue/organ?

Answer 49

Just before its first appearance

Question 50

Teratogenic exposure events that occur during (X) phase of human development result in major morphological abnormalities.

Answer 50

X = embryonic

Question 51

Teratogenic exposure events that occur during (X) phase of human development result in minor morphological abnormalities.

Answer 51

X = fetal

Question 52

T/F: During fetal period, much of organogenesis is complete.

Answer 52

True