Genetic and Congenital Disorders (ppt3) Flashcards

1
Q

How do eukaryotic cells arrange their DNA?

A

Chromosomes

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2
Q

What are the proteins DNA is wrapped around?

A

Histones

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3
Q

What is the DNA called when the cell is non-dividing?

A

Euchromatin

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4
Q

What does DNA replicating semi-conservatively mean?

A

The double strand splits in half, and each side makes a copy of the other side

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5
Q

What is DNA?

A

Its a physical pattern for the production of specific amino acids that produce specific proteins for specific jobs

dna makes>amino acids>makes protein>does job

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6
Q

What differentiates types of cells?

A

which proteins we can and do turn on

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7
Q

What is the key from getting from DNA to protein?

A

RNA

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8
Q

What is mRNA?

A

A copy of RNA that leaves the nucleus and turns into a protein

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9
Q

What is tRNA?

A

it reads mRNA and brings the amino acid for that protein

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10
Q

What is rRNA?

A

the molecule that makes up the ribosomes

(r for ribosome)

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11
Q

What is snRNA?

A

the molecule responsible for RNA processing, when paired with proteins

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12
Q

Is Eukaryotic Cell DNA efficient? Why?

A

No, it has lots of useless stuff (tbh we don’t know what it does yet)

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13
Q

What is the non-usable part of DNA called?

A

INTRONS

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14
Q

What are the usable parts of DNA called?

A

Exons

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15
Q

If the ribosome gets this useless ish in the dna what happens?

A

It makes useless proteins

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16
Q

How does the cell seperate good protein from bad?

A

RNA splicing

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17
Q

What do sRNA and proteins form?

A

snRNP’s (snerps) that make loops that cut dat intron out they life

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18
Q

How many pairs of chromosomes do humans have?

A

23

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19
Q

What does autosomal mean and how many chromosomes are autosomal?

A

they code for
the same things in everyone.and theres 22

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20
Q

Which pair is the sex chromosome?

A

23

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21
Q

What do males have?

A

XY

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22
Q

What do females have?

23
Q

Whats in the middle of a chromose? That hourglass shape?

A

A centrosome

24
Q

Can chromosomes be damaged and have parts lost?

25
What is meiosis?
The scrambling and halving of chromosomes so that they recombine with other sex cells
26
What does meiosis do?
It makes sure this random assortment and variation in populations so we al different!
27
What is crossing over?
when two arms of a Chromosome swap with one another.
28
What can cause genetic disorders?
mistakes in meiosis: additions, deletions, mistakes in corssing over and mistakes in random assortment
29
Whats a key tool in determining how particular diseases are inherited across generations
Pedigrees
30
What is Mendels law of segregation
During gamete formation, the alleles for each gene segregate from each other so that each gamete carries only one allele for each gene.
31
What is Mendels law of independent assortment?
Genes for different traits can segregate independently during the formation of gametes.
32
What is Mendels law of dominance?
Some alleles are dominant while others are recessive; an organism with at least one dominant alleles will display the effect of the dominant allele.
33
What is genetic sequencing? the human genome project
If something is missing or messed up you can predict what can happen
34
Recombinant DNA Technology (Plasmids) –
tiny DNA loops can be added to cells to make them do what they're supposed to
35
DNA Fingerprinting (Gel Electrophoresis)
chopping dna up and switching it around and seeing what happens
36
Gene Therapy
put a gene in a virus and put the virus in a cell
37
RNA Interference –
make a gene stop by messing it up and shutting it down during RNA processing
38
what are Autosomal Dominant Disorders –
on the first 22 and only need one to show up
39
Autosomal Recessive Disorders –
§Found on one of the first 22 chromosomes and need 2 copies to show up.
40
X-Linked Recessive
Found on the 23rd Chromosome. Usually only X is involved, because Y carries very little information other than Androgen production.
41
What are multifactorial disorders
Caused by multiple genes and environmental factors for example cleft lip
42
What are Structural Abnormalities
§result from breakage and possibly relocation or deletion of one or more chromosomes.
43
What is having the wrong number of chromosomes called?
Aneuploidy
44
What are mitochondrial gene disorders?
When mitochondrias own DNA (37 genes) mess up
45
What is a Teratogenic Agent
any substance that causes birth defects or developmental disorders
46
What is the period of vulnerability?
§those critical time spans in the womb where critical cell divisions are taking place
47
What are some examples of teratogens?
radiation, chemicals and drugs, and cheaptorches
48
What is an ultrasonography?
noninvasive technique using high frequency sound waves
49
What are maternal serum markers
§checks for particular substances in the blood
50
What is amniocentesis?
§removes some amniotic fluid from uterus
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