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Genetics Flashcards

1
Q

boy genotype

A

XY

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2
Q

girl genotype

A

XX

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3
Q

histone proteins

A

DNA is wrapped around histone proteins to form chromosones

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4
Q

mitosis

A

1 diploid parent cell divides into 2 identical daughter cells (not 100% identical due to mutations)

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5
Q

meiosis

A

1 diploid cell becomes 4 haploid daughter cells

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6
Q

process of meiosis

A

chromosomes duplicate
chromosomes line up and cross over
one chromosome to each daughter

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7
Q

what increases variation of meiosis

A

crossing over

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8
Q

polymorphism

A

variation in the human genome that is not directly disease causing

Any variation in the human genome that has a population frequency of greater than 1%

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9
Q

mutation

A

a gene change

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10
Q

when does mitosis occur

A

whenever more cells are needed

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11
Q

acrocentric chromosome

A

centromere is close to the bottom or top of chromosome

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12
Q

unbalanced chromosomal rearrangement

A

extra or missing chromosomal material

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13
Q

balanced chromosomal rearrangement

A

All the chromosomal material is present

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14
Q

translocation

A

rearrangement of chromosomes

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15
Q

Aneuploidy

A

whole extra or missing chromosomes

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16
Q

robertsonian translocation

A

two acrocentric chromosomes stuck end to end

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17
Q

trisomy

A

chromosomal disorder with an extra chromosome

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18
Q

down syndrome

A

extra 21 chromosome

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19
Q

turner syndrome

A

only one x chromosome

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20
Q

triple x syndrome

A

women with 3 x chromosomes in every cell

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21
Q

Klinefelter syndrome

A

males with at least 2 chromosomes and 1 y chromosome

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22
Q

monosomy

A

missing chromosome from diploid set

23
Q

FISH

A

Fluorescence in situ hybridization

24
Q

what test would you use to examine whole genome?

A

aCGH
detects missing/duplicated material but many are neutral
first line

25
Q

what test would you use to examine specific chromosomes

A

quantitative PCR

26
Q

mocaism

A

different cells have a different genetic make up

27
Q

what do exons do?

A

code for proteins

28
Q

what do introns do?

A
  • regulate genes
  • space out genes from promotors
  • provide a substrate for expanding the genome
29
Q

germ cells

30
Q

germline mocaism

A

2 populations of sex cells in an individual

31
Q

somatic mociasm

A

2 populations of non sex cells in an individual

32
Q

cancer and mocaism

A

cancer is a disease of somatic mocaism caused by post zygotic mutations

33
Q

zygote

A

cell formed by the fertilisation of two gametes

34
Q

hallmarks of cancer

A 
evade apoptosis 
sustained growth signalling
insensitivity to anti growth signals
tissue invasion and mets
limitless replicative potential 
sustained angiogenesis
35
Q

angiogenesis

A

new blood vessel formation

36
Q

genes involved in cancer

A

oncogenes: signal cell growth
tumour supressors: stop cell growth
dna repair: repair damaged DNA
drug metabolism: metabolise carcinogens

37
Q

driver mutations

A

mutations that drive carcingens

38
Q

passenger mutations

A

mutations that occur bc the tumour is unstable

39
Q

knudsons 2 hit hypothesis

A

cancers arrise from the accumulation of multiple dna mutations

40
Q

penetrance

A

the extent of which a gene is expressed in the phenotype of an individual measured by the proportion of carriers with the characteristic phenotype

41
Q

what gene is linked with breast cancer

42
Q

are cancers genetically stable or unstable?

43
Q

name of the condition in men with at least 2X chromosomes

A

kleifelter syndrome

44
Q

when 2 acrocecntric chromosomes join together

A

robertsonian translocation

45
Q

women with only oneX chromosomr

A

turner syndrome

46
Q

name of the condition with whole missing or extra chrmosomes

A

aneuploidy

47
Q

conditions with one chromosome

48
Q

condition with 3 chromosomes

49
Q

edwards syndrome

A

3rd copy of choromosone 18

50
Q
  • 1st line chromosome test
A

microarray CGH

detects missing or duplicated chromosomes

51
Q

Autosomal Dominant

A
  • Disease seen in all generations
  • 50% risk of affected child if parent affected
  • Disease severity variable
  • Males and females equally likely to be affected
52
Q

autosomal recessive

A
  • 2 faulty copies of the gene required to cause disease
  • Often only one generation affected
  • 1 in 4 (25%) risk of an affected child if parents are carriers
  • I
53
Q

X linked

A
  • Recessive
  • Y chromosome almost irrelevant
  • Haemophilia
  • If mother carrier, 50% chance daughter carrier, 50% chance male affected
  • No male-male transmission
54
Q

X inactivation

A
  • A cell only requires one working copy of the X chromosome. In females, each cell has a random X chromosome inactivated

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