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Biosci 202 > Lecture 10 + 11 (12) > Flashcards

Lecture 10 + 11 (12) Flashcards

1
Q

What is the Position effect?

A

Due to translocations gene expression may come under the control of different regulatory sequences

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2
Q

Neurofibromatosis is…

How was it mapped

A
  • genetic disease with numerous fibrous tumours of the skin and nervous system
  • was mapped using translocation break points
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3
Q

Abnormal meiotic configurations can result from

A

Tranlocations

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4
Q

Translocations involve the movement of genetic material between…

A

nonhomologous chromosomes and within the same chromosome

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5
Q

What are the 2 types of translocations

A

reciprocal and nonreciprocal

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6
Q

how does genetic material move in Nonreciprocal translocation

A

genetic material moves from 1 chromosome to another without any reciprocal exchange

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7
Q

Translocation in meiosis __% of gametes of the segregation pattern are viable

A

50%

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8
Q

What are the 3 types of segregation patterns resulting from translocation in meiosis, and what one(s) produce viable gametes
-these are reciprocal or nonreciprocal translocations

A

-alternate segregation = viable gametes
-adjacent 1 (horizontal) = non viable
-adjacent 2 (vertical) RARE = non viable
are reciprocal translocations

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9
Q

A heterozygote with a reciprocal translocation has 1 or both normal and or translocated chromosome

A

1 normal and 1 translocated chromosome

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10
Q

What happens to the recombinants when a translocation heterozygote is testcrossed?
Why is this?

A
  • the recombinants do NOT survive

- they carry unbalanced genomes (duplications and deletions make them nonviable)

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11
Q

In a translocation heterozygote testcross what are the viable progeny

A

progeny with parental genotypes only

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12
Q

Genes on translocated chromosomes (that are normally on seperate homologous chromosomes) act as though they are linked, what is this called?

A

Pseudolinkage

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13
Q

What happens in a Robertsonian translocation (x3)

A

-the short arm of 1 acrocentric chromosome is exchanged with the long arm of another
-Generates 2 metacentric chromosomes, 1 with 2 long arms and 1 with 2 short arms
-the short arm often fails to segregate and is lost
(see pic)

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14
Q

Translocation of chromosome 21 (x2) = Familial Down Syndrome

A
  • The long arm of chromosome 21 is attached to the chromosome 14
  • The carrier is phenotypically normal but is at risk of producing Down’s syndrome children
  • 4% of ppl with down syndrome have this translocation familial type
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15
Q 
Of these what ones are aborted and what one(s) result in down syndrome?
Trisomy 21
Trisomy 14
monosomy 21
monosomy 12
A

Trisomy 21 = Down Syndrome
Trisomy 14 = aborted
monosomy 21 = aborted
monosomy 12 = aborted

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16
Q

Chimps, gorillas and orangutan have 48 chromosomes and humans have 46 , what casued this difference

A

Translocation and loss of a chromosome

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17
Q

What is special about Chromosome 2 (in humans) (x3)

A
  • is a large metacentric chromosome
  • G-banding patterns
  • this matches the banding patterns found on 2 acrocentric chromosomes in apes
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18
Q

Colchicine (x2)

A

Inhibits spindle formation

makes polyploid plants

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19
Q

Meiotic paring in autotriploid results in

A

Trivalent OR Bivalent+Univalent

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20
Q

In autopolyploidy mutations can occur with/without mutations

A

with out

21
Q

Bread =
cotton =
banana =

A 
Bread  = allopolyploid
cotton = allopolyploid
banana = autopolyploid
22
Q

non-disjunction

A

failure of homologous chromosomes to separate in mitosis or meiosis

23
Q

non-disjunction is the most common cause of _____ in meiosis and mitosis, but _____ is more common

A

Aneuploidy

meiosis is more common

24
Q

Without _____ nondisjunction at meiosis 1 increases

A

crossing over

25
Q

Meiotic nondisjunction at 1st division results in what gametes

A

x2 Trisomic

x2 monosomic

26
Q

Meiotic nondisjunction at 2nd division results in what gametes

A

x1 trisomic
x1 monosomic
x2 normal n

27
Q

Aneuploidy mutations are almost always lethal except in

A

Sex chromosomes

because the extra X chromosomes are inactivated and the Y chromosome carries few genes

28
Q

Klinefelter syndrome…

A

Human aneuploidy: have x2 X-chromosomes + Y -chromosome

Man is feminine: small testes, osteoporisis, brest development, tall, female pubic hair, impared IQ, loose chest hair

29
Q

Incidence of Down syndrome in USA

A

1 in 700

30
Q

Down Syndrome mainly arises from

A

Maternal nondisjunction

31
Q

Female are born with the primary oocytes suspended in the

A

diplotene substage of prophase 1 of meiosis

  • meiosis resumes at each menstural period, the chromosomes must remain in the bivalent for many decades
  • spindle may break down over time
32
Q

Most frequent chromosomal abnormality is…

A

aneuploidy in sex chromosomes

33
Q

in chloroplast a whole stack of Thylakoids =

A

Granum

34
Q

Mit diameter

A

0.5-1 um

35
Q

cp diameter

A

4-6 um

36
Q

matrix in mit or cp. stroma in mit or cp

A

matric in mit

stroma in cp

37
Q

Endosymbiosis

A

cell living inside another host cell

38
Q

Mit and cp both have a ____ origin

A

endosymbiosis

39
Q

An anaerobic eukaryotic cell engulfed an aerobic ____ through endocytosis to make present day animal cell (with mit)
Then engulfed a photosynthesizing eubacterial cell _____, to make present day plant cell with mit an cp

A

probacterium (eubacterrial cell)

cyanobacterium

40
Q

Protist=

A

single cell eukaryote

41
Q

human mit genome = ___ bp

A

16, 569

42
Q

Human mtDNA:
_rRNA
__tRNA
__ proteins

A

2 rRNA
22 tRNA
13 proteins

43
Q

Heavy chain of mitDNA strands has more __ while Light strand has more___

A

G heavy, C light

44
Q

What is the d-loop

A

origin of replication for he heavy strand, shows variation

45
Q

mitDNA is highly economic…

A

no introns, all mRNA is translated, only has a few noncoding nucleotides, compared to yeast which has introns and noncoding sequences

46
Q

poky mutaion occurs in

A

Cytoplasm in of mit, fungi have poky ie slow growth phenotype, poky mutation of rRNA

47
Q

Heteroplasmy

A

the existance of 2 different types of mtDNA

48
Q

cytoplasmic segregation

A

process by which 1 type of mtDNA comes to dominate tissue

Biosci 202 (3 decks)

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