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MI and Genomics > GM 01: Intro > Flashcards

GM 01: Intro Flashcards

1
Q

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

A

X = treatment;
Individual;
Y = genomic health profile

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2
Q

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.

A

Rare; single

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3
Q

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

A

True

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4
Q

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

A

False - also behavioral, environmental factors, etc.

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5
Q

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

A

True

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6
Q

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

A

Polygenic;
Oligogenic;
Single gene

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7
Q

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

A

Polygenic

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8
Q

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

A 
X = missense 
Y = exon
Z = producing beta chain of Hb
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9
Q

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

A

True - except maybe under low PO2 conditions

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10
Q

In sickle cell anemia, heterozygote individuals have which allele?

A

Both HbA and HbS (CO-DOMINANT)

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11
Q

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

A 
X = nonsense;
Y = exon
Z = NF1
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12
Q

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

A

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

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13
Q

What’s the inheritance pattern of neurofibromatosis?

A

Autosomal dominant

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14
Q

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

A 
X = franeshift
Y = exon
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15
Q

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

A 
X = deletion (3 NT)
Y = exon
Z = CFTR
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16
Q

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

A 
Y = intron;
Z = PAH
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17
Q

CF is inherited in (dominant/recessive) fashion.

A

Recessive

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18
Q

Phenylketonuria is inherited in (dominant/recessive) fashion.

A

Recessive

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19
Q

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

A

Phenylketonuria and beta-thalassemia

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20
Q

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

A

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

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21
Q

Describe the concept of allelic heterogeneity.

A

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

22
Q

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

A

False - different alleles associated with different degrees of clinical severity

23
Q

Prenatal human development divided into which three main phases?

A
  1. Pre-implantation and implantation
  2. Embryonic period
  3. Fetal period
24
Q

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

A

Totipotent;
X = germ
Y = embryonic
Pluripotent

25
Q

Organogenesis begins in which phase of human development?

A

Embryonic

26
Q

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?

A 
X = embryonic;
Y = morphogens

Long-distance signaling

27
Q

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

A

X = morphogens;
Y = polarity and directional
Embryo

28
Q

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

A 
X = transcription factors;
Y = controlling pattern formation (segmental body plan)
29
Q

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

A

X = malformation

30
Q

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

A

X = deformation

31
Q

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

A

X = disruption

32
Q

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

A

X = dysplasia

33
Q

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

A

X = syndrome

34
Q

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

A

Malformation

35
Q

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

A

Disruption

36
Q

Neurofibromatosis is which type of atypical morphology?

A

Dysplasia

37
Q

Osteogenesis imperfecta is which type of atypical morphology?

A

Dysplasia

38
Q

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

A 
X = achondroplasia;
Y = receptor for FGF
Z = receptor activation (without ligand), leading to inhibition of chondrocyte proliferation
39
Q

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

A

X = autosomal dominant;

Gain

40
Q

What’s a “recessive embryonic lethal” mutation? Give an example.

A

Fetus that’s homozygous for mutation won’t survive to term.

Ex: achondroplasia

41
Q

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

A

X = brain;

Both genetic and environmental

42
Q

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

A

X = Sonic Hedgehog Gene (SHH)

Variable expressivity

43
Q

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

A

Genetic/locus heterogeneity;

Ex: Holoprosencephaly (HPE) caused by mutation in SHH, TGIF, SIX3, ZIC2

44
Q

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

A

X = Holoprosencephaly (HPE)

45
Q

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

A

Both;

X = increasing repeat expansions

46
Q

T/F: Synpolydactaly demonstrates anticipation.

A

False

47
Q

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

A 
More;
Incomplete dominance (difference in dosage)
48
Q

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

A

X = pre-implantation and implantation

49
Q

When is the critical period for given tissue/organ?

A

Just before its first appearance

50
Q

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

A

X = embryonic

51
Q

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

A

X = fetal

52
Q

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

A

True

MI and Genomics (16 decks)

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