genetics- not finised Flashcards

1
Q

chromosome structure

A
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2
Q

chromatids are made from ___ and are the site of ___

A

repetitive sequences of DNA- satellite DNA

kinetochore- attatches chromatids to spindle

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3
Q

heterochromatin is made of

A

silenced genes- condensed structure

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4
Q

euchromatin is made from

A

active genes- open structure- where transcribed genes are

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5
Q

chromatin structure

A

DNA packed with histones into nucleosomes

histones have positive charge and DNA have negative

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6
Q

characteristics of autosomal dominant inheritance

A

each child has a 50% chance of inheriting

no skipped generations

equally transmitted to females and males

male to male transmission

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7
Q

characteristics of sex linked inheritance

A

only males affected usually

can skip generations

unaffected women and men can transmit

no male to male transmission

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8
Q

is sickle cell recessive or dominant

A

recessive- both parents must be carriers

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9
Q

is CF recessive or dominant

A

recessive- needs both parents to be carriers

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10
Q

child’s chances of illness in recessive conditions when both parents are carriers

A

1 in 4

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11
Q

childs chances of carrying with one parent is a carrier in a recessive condition

A

2 in 4

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12
Q

huntingtins dominant or recessive

A

dominant

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13
Q

how is Duchenne’s spread

A

X linked inheritance

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14
Q

how are sex genes inherited

A

females get X from dad and X from mum

males get X from mum and Y from dad

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15
Q

X linked inheritance: mother carrier chances

A

50% chance each son will have

50%chance each daughter

both get an X from mother

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16
Q

X linked inheritance: father carrier chances

A

none of sons will have

all daughters will carry

17
Q

3 types of chromosome abnormality

A

numerical

structural

mutational

18
Q

numerical abnormality: non disjunction mainly comes from

A

the mother

except turner syndrome 45,X

19
Q

numerical abnormality: whats non disjunction

A

chromosomes don’t line up properly during meiosis 1 or 2

sister chromatids don’t separate or 2 homologues end up in 1 cell

20
Q

numerical abnormality: autosomal aneuploidy syndromes

A

trisomy 21

trisomy 13- patau syndrome

trisomy 18- edwards syndrome

all mainly by non disjunction

21
Q

numerical abnormality: trisomy 13 patau syndrome

A

dysmorphic features and mental retardation

poor survival

22
Q

numerical abnormality: trisomy 18 edwards syndrome

A

severe developmental problems

poor survival

23
Q

numerical abnormality: sex chromosomes aneuploidy syndrome

A

45,X- turner syndrome

47, XXY Klinefelter syndrome

24
Q

numerical abnormality: turner syndrome 45, X

A

spontaneous loss common

always female- no Y

short stature

infertile

webbed neck and widely spaced nipples

25
Q

numerical abnormality: klinefelter syndrome 47,XXY

A

tall stature and long limbs

always male

infertile and small testes

mild learning difficulties

26
Q

structural abnormality: include

A

balanced or unbalanced rearrangements

translocations

deletions, insertions and inversions

27
Q

structural abnormality: reciprocal translocations

A

breaks in 2 chromosomes making 2 new derivative chromosomes

28
Q

structural abnormality: robertsonian translocations

A

fusion of 2 acrocentric chromosomes (far away from eachother)

29
Q

how are chromosome mutations detected

A

PCR

gel electrophoresis

RFLP

ARMS

DNA sequencing

30
Q

genetic processes associated with cancer

A

oncogenes

tumour suppressor genes

DNA damage response genes

31
Q

what do tumour supressor genes do

A

cells brakes for growth

inhibit cell cycle or promote apoptosis

cancer happens when both breaks fail

32
Q

what are microsatellite sequences

A

repeated sequences of DNA