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pathology > Genetic and Congenital Disorders (ppt3) > Flashcards

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?

A

XX

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?

A

YES

25
Q

What is meiosis?

A

The scrambling and halving of chromosomes so that they recombine with other sex cells

26
Q

What does meiosis do?

A

It makes sure this random assortment and variation in populations so we al different!

27
Q

What is crossing over?

A

when two arms of a Chromosome swap with one another.

28
Q

What can cause genetic disorders?

A

mistakes in meiosis: additions, deletions, mistakes in corssing over and mistakes in random assortment

29
Q

Whats a key tool in determining how particular diseases are inherited across generations

A

Pedigrees

30
Q

What is Mendels law of segregation

A

During gamete formation, the alleles for each gene segregate
from each other so that each gamete carries only one allele for each gene.

31
Q

What is Mendels law of independent assortment?

A

Genes for different traits can segregate
independently during the formation of gametes.

32
Q

What is Mendels law of dominance?

A

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
Q

What is genetic sequencing? the human genome project

A

If something is missing or messed up you can predict what can happen

34
Q

Recombinant DNA Technology (Plasmids) –

A

tiny DNA loops can be added to cells to make them do what they’re supposed to

35
Q

DNA Fingerprinting (Gel Electrophoresis)

A

chopping dna up and switching it around and seeing what happens

36
Q

Gene Therapy

A

put a gene in a virus and put the virus in a cell

37
Q

RNA Interference –

A

make a gene stop by messing it up and shutting it down during RNA processing

38
Q

what are Autosomal Dominant Disorders –

A

on the first 22 and only need one to show up

39
Q

Autosomal Recessive Disorders –

A

§Found on one of the first 22 chromosomes and need 2 copies to show up.

40
Q

X-Linked Recessive

A

Found on the 23rd Chromosome. Usually only X is involved, because Y carries very little information other than Androgen production.

41
Q

What are multifactorial disorders

A

Caused by multiple genes and environmental factors for example cleft lip

42
Q

What are Structural Abnormalities

A

§result from breakage and possibly relocation or deletion of one or more chromosomes.

43
Q

What is having the wrong number of chromosomes called?

A

Aneuploidy

44
Q

What are mitochondrial gene disorders?

A

When mitochondrias own DNA (37 genes) mess up

45
Q

What is a Teratogenic Agent

A

any substance that causes birth defects or developmental disorders

46
Q

What is the period of vulnerability?

A

§those critical time spans in the womb where critical cell divisions are taking place

47
Q

What are some examples of teratogens?

A

radiation, chemicals and drugs, and cheaptorches

48
Q

What is an ultrasonography?

A

noninvasive technique using high frequency sound waves

49
Q

What are maternal serum markers

A

§checks for particular substances in the blood

50
Q

What is amniocentesis?

A

§removes some amniotic fluid from uterus

51
Q
A
52
Q
A
53
Q
A

pathology (6 decks)

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