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Medicine; Phase 1 > IMMS genetics > Flashcards

IMMS genetics Flashcards

1
Q

genotype

A

genetic constitution of an individual

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2
Q

phenotype

A

appearance of an individual (physical, biochemical, physiological)
interaction of environment and genotype

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3
Q

allele

A

one or more altenative forms of a gene at a specific locus

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4
Q

polymorphism

A

frequent hereditary variations at a locus

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5
Q

homozygous

A

identical alleles at a given locus (affected)

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6
Q

heterozygous

A

two different alleles at a given locus (unaffected, carriers)

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7
Q

hemizygous

A

only one allele refers to a locus on a X chromosome in a male

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8
Q

autosomal dominant inheritance

A

disease which is manifest in the heterozygous state

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9
Q

karyotype

A

the number and visual appearance of the chromosomes in the nuclei of an organism or species

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10
Q

autosomal recessive inheritance

A

disease which manifests in the homozygous state

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11
Q

X linked recessive inheritance

A

caused by pathogenic variants in genes on the X chromosome

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12
Q

Properties of mitochondrial inheritance

A

maternal

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13
Q

what are multifactorial genetic conditions

A

diseases that are due to a combination of genetic and environmental factors

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14
Q

mendelian inheritance

A

pattern of inheritance following the laws of segregation and independent assortment

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15
Q

what is Mendel’s 2nd law

A

law of independent assortment
- each pair of genes separate independently of each other in production of sex cells.

( gene pairs on separate chromosomes assort independently at meiosis)

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16
Q

autosome

A

any chromosome other than the sex chromsomes, that occurs in pairs in diploid cells

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17
Q

recessive

A

manifest only in homozygotes

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18
Q

allelic heterogeneity

A

lots of different variants in one gene

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19
Q

what is mendelian inheritance

A

autosomal vs sex linked

dominant vs recessive

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20
Q

what is non- mendelian inheritance

A

imprinting
mitochondrial inheritance
multifactorial

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21
Q

what are the typical features of autosomal recessive inheritance

A
  • affected individuals only in a single generation
  • males and females affected in equal proportions
  • parents can be related (consanguineous)
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22
Q

consanguinity

A

reproductive union between 2 relatives (represented as double lines on pedigree)

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23
Q

autozygosity

A

homozygosity by descent

(inheritance of the same altered allele through 2 branches of the same family

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24
Q

Autosomal recessive, what is chance of offspring being affected, 2 carrier parents

A

25%

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25
Q

autosomal dominant inheritance

A

disease manifests in the heterozygous state (only one affected gene needed)

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26
Q

what are the typical features of autosomal dominant

A
  • affected individuals in multiple generations
  • male and females affected in equal proportions
  • transmission by individuals of both sexes, to both sexes
27
Q

penetrance

A

the percentage of individuals with a specific genotype showing the expected phenotype

28
Q

expressivity

A

refers to the range of phenotypes expressed by a specific genotype

29
Q

anticipation

A

whereby a genetic disorder affects successive generations earlier or more severely
(usually due to expansion of unstable triplet repeat)

30
Q

somatic mosaicism

A

genetic fault present in only some tissues in body

31
Q

gonadal mosaicism

A

genetic fault present in gonadal tissue

32
Q

late onset

A

condition not manifest at birth (congenital), classically adult onset

33
Q

sex limited

A

condition inherited in AD pattern that seems to affect one sex more than another

34
Q

X linked inheritance

A

genes carried on X chromosome

35
Q

typical features of X linked inheritance

A

usually only males affects
transmitted through unaffected females
no male to male transmission

36
Q

lyonization (x- inactivation)

A

process by which one of the X chromosome can be activated in females

37
Q

X linked inheritance

will an affected male have carrier daughters

A

yes

38
Q

Autosomal dominant

if both parents are unaffected, can children be carriers or affected

A

NO

good way to spot on pedigrees

39
Q

imprinting

A

epigenetic phenomenon that causes genes to be expressed in a parent of origin specific manner

mother affected allele causes a different disease to a father affected allele

40
Q

homoplasmy

A

eukaryotic cell whose copies of mitochondrial DNA are all identical

41
Q

heteroplasmy

A

there are multiple copies of mitrochondria DNA in each cell

42
Q

what causes mitrochondria genetic disease

A

mutations in the mitrochondiral DNA or in nuclear genes (then imported to mitrochondria)

43
Q

what does a diamond and small circle mean on a pedigree

A

diamond- sex unknown

small circle- abortion/ still birth

44
Q

do inherited cancers require 1 or 2 mutations to become malignant

A

1

sporadic cancers = 2

45
Q

variable expression

A

when one genotype can produce a wide range of different phenotypes

46
Q

sex limitation

A

genes present in both sexes but only expressed in one, remains turned off in the other

47
Q

what bases form a start codon

A

AUG

48
Q

what are numerical chromosome abnormalities

A

trisomy (47, XX +21)
monosomy (45 X)
polyploidy (more than two paired (homologous) sets of chromosomes)

49
Q

what are structural chromosomal abdnormalities

A
  • translocation (portion of chromsome breaks off and attaches to another chromsome)
  • inversion
  • duplication
  • deletions
50
Q

what is the name for looking at chromsome abnormalities

A

Cytogenetics

51
Q

genetic polymorphism

A

occurrence of multiple alleles at a locus

52
Q

how can multiple proteins get made from the same DNA

A

alternative splicing of the pre-MRNA

exon shuffling

53
Q

what are the types of genetic variant (general)

A

duplications of genes or part of genes
deletions (whole gene or some exons)
variants within the regulatory sequence
splice site variants

54
Q

what is a non-sense variant

A

introduce premature stop codon (out of frame deletion produces a stop codon)

55
Q

what is a miss-sense variant

A

single base substitution and changes the type of amino acid in the protein.

56
Q

difference between out of frame and frame deletion

A

out of frame- reading frame is completely disrupted (not a multiple of 3 bases are deleted)

in frame- multiple of 3 DNA bases are deleted so an entire codon is deleted, frame shift does not occur

57
Q

splice site variant

A

affects the accurate removal of an intron

58
Q

locus heterogeneity

A

variants in different genes give the same clinical condition

59
Q

Multifactorial diseases are due to an interaction of genes with environment, what are the embryonic environmental factors

A

drugs and chemicals
maternal infections
physical agents
maternal illness

60
Q

Multifactorial diseases are due to an interaction of genes with environment, what are the post natal environmental factors

A 
type 2 diabetes (obesity) 
lung cancer (smoking)
61
Q

what is the difference between screening test and diagnostic test?

A

screening test- process of identifying people with an inc chance of condition

diagnostic test- confirms whether disease is present or not

62
Q

when does crossing over occur

A

prophase I

63
Q

what is an example of a super secondary structure

A

zinc finger

Medicine; Phase 1 (10 decks)

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