Highlighted content wk 1

Question 1

1) Define aneuploid.
2) When is this term usually used?

Answer 1

1) Wrong number of copies
2) In relation to one chromosome in an individual

Question 2

1) Define autosomes
2) Define sex chromosomes

Answer 2

1) Non-sex chromosomes
2) X and Y

Question 3

mRNA is transported from the nucleus to the cytoplasm where the encoded information is translated into the amino acid sequence of a protein. Does this occur before or after processing?

Answer 3

After

Question 4

What requires the interaction of mRNA, ribosomes (rRNA), tRNA molecules, amino acids, enzymes, and energy sources?

Answer 4

Translation

Question 5

Methylation is an example of what?

Answer 5

Genetic imprinting (the parental “tagging” of alleles that prevent transcription)

Question 6

Are mitochondrial genes are inherited exclusively maternally, paternally, or from both?

Answer 6

Exclusively maternally

Question 7

What type of genetic disorder’s defect is due to an excess or a deficiency of the genes contained in whole chromosomes or chromosome segments?

Answer 7

Chromosome disorders

Question 8

What causes single-gene disorders?

Answer 8

Mutations in individual genes

Question 9

“disease is the result of multiple different genes acting together, often in concert with environmental factors” describes what kind of genetic disorder?

Answer 9

Multifactorial inheritance

Question 10

The primary oocyte undergoes ______________________ and then waits until puberty

Answer 10

prophase I

Question 11

What occurs during prophase I?

Answer 11

Homologues are condensed and separated

Question 12

Mutations in individual genes can result in what kind of disorder?

Answer 12

Single-gene disorders

Question 13

Define polymorphism

Answer 13

Two or more versions of an allele, with each comprising at least 1% of the population

Question 14

What does locus relate to?

Answer 14

location

Question 15

Alternative versions of a locus on the DNA code are called what?

Answer 15

Alleles

Question 16

1) Define genotype
2) Define phenotype

Answer 16

1) The genetic material in a person – in a specific locus the two alleles occupying that locus on two homologues
2) The expressed physical traits of the genotype

Question 17

The alterations that wind up on the _________ strand are the mutations we are talking about

Answer 17

protein

Question 18

True or false: SNPs only involve a single location

Answer 18

True

Question 19

Frameshift mutations: When the insertion / deletion number of nucleotides is not a multiple of three, what happens?

Answer 19

Everything downstream is messed up

Question 20

Dynamic mutation:
Often the wild type allele is polymorphic with varying number of tandem repeats, however, the _____________ expands as it is passed down in some families, causing abnormalities of gene expression

Answer 20

number

Question 21

How do you track the rate of disease-causing gene mutations: what 3 things make the frequency traceable?

Answer 21

1) You have to look at incidence of new cases not present in mom or dad
2) Disease has to be caused by single mutation
3) Has to be evident in baby

Question 22

Achondroplasia:
1) FGFR3 binds to _______________________ factors
2) What is the cause of achondroplasia?
3) What does it do to chondrocyte proliferation?

Answer 22

1) fibroblast growth factors
2) Binding of growth factors here
3) inappropriately inhibits

Question 23

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Question 24

1) Define homozygous
2) Define heterozygous
3) Define compound heterozygous
4) Define hemizygous and give an example

Answer 24

1) Having a pair of identical alleles
2) Having two different alleles – one mutant and one wild type
3) Having two mutant alleles
4) Only one allele (MC a male with the mutant allele on single X chromosome)

Question 25

List 3 kinds of single gene disorders

Answer 25

Autosomal recessive
Autosomal dominant
X-linked

Question 26

Define Penetrance

Answer 26

probability that mutant allele or alleles will have any phenotypic expression at all

Question 27

When frequency of expression is less than 100% - in other words, when at least someone with the genotype completely fails to demonstrate disease – it is said to show what kind of penetrance?

Answer 27

“reduced” or “incomplete”

Question 28

True or false: the baby’s sex doesn’t matter for autosomal genes mendelian inheritance

Answer 28

True

Question 29

A disease demonstrates “incomplete dominance” when ________________ dominant individuals suffer more severely from autosomal dominant disease than their _______________ counterparts

Answer 29

homozygous; heterozygous

Question 30

True or false: most diseases are incomplete dominant

Answer 30

True

Question 31

65 highlight edit this card to simplify
1) Define hemochromatosis
2) What is its penetrance and expressivity?
3) What inheritance pattern does it have?

Answer 31

1) Disease of iron overload resulting in mutation of the HFE gene
2) Incomplete penetrance and variable expressivity
3) Autosomal recessive inheritance pattern

Question 32

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Question 33

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Question 34

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Question 35

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Question 36

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Question 37

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Question 38

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Question 39

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Question 40

Who can hemophilia A be inherited from?

Answer 40

Either mom or dad

Question 41

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Question 42

Why are Mitochondrial DNA disease so rare?

Answer 42

Because energy production is so fundamental and ubiquitous to all cellular function