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EMS > GIM week 1 > Flashcards

GIM week 1 Flashcards

1
Q

What genetic condition can cause eye lens dislocation

A

Marfan syndrome

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2
Q

Human Genetics:

A

the sciences of heredity and variation in humans

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3
Q

Medical genetics:

A

the subset of human genetics that is important in medicine and medical research

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4
Q

Molecular genetics:

A

the study of the structure and function of individual genes

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5
Q

Clinical genetics

A

the application of genetics to diagnose and patient care

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6
Q

4 genetic causes of inherited disorders:

A

single gene, chromosomal, mitchochondrial, imprinted

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7
Q

What are genetic biomarkers of disease used for? - 2 examples

A

Cancer profiling

Mechanism of disease course

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8
Q

Pharmacogenetics:

A

who will respond in what way, good or bad

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9
Q

Germline mutations:

A

a series of germ cells each descended or developed from earlier cells in the series, regarded as continuing through successive generations of an organism.

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10
Q

Somatic mutations:

A

the occurrence of a mutation in the somatic tissue of an organism, resulting in a genetically mosaic individual.

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11
Q

Non genetic tests:

A

blood tests - enzyme assays. Haematology

X-rays- skeletal dysplasia

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12
Q

Genetic tests:

A

Genomic architecture - cytogenetics, array-based techniques

Gene faults- sequencing, other methods, Targetted, global (WGS, exome)

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13
Q

What is genetic counselling?

A

An education process to help affected or at risk individuals to understand the nature of a genetic disorder - how its transmitted and options for management and family planning

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14
Q

what does 100kg refer to in genetics?

A

100,000 genomes

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15
Q

what percentage of children in hospital are there due to rare diseases?

A

1/4 to 1/3

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16
Q

which mendelian/monogenic forms cause hytertension? Give an example

A

rare syndromes of hypo- or hypertension eg pseudohypoaldosteronism liddle syndrome

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17
Q

which mendelian/monogenic forms cause epilepsy?

A

familial epilepsies

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18
Q

which mendelian/monogenic forms causes autoimmune disorders

A

monogenic autoinflammatory disorders (eg TRAPS)

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19
Q

which mendelian/monogenic forms cause altered head size

A

microcephaly (small brains)

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20
Q

which mendelian/monogenic forms cause diabetes?

A

familial forms (type 2), MODY

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21
Q

Which genes are mutated that cause hypertensions?

A

the ones involved in renal salt balance

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22
Q

Which genes are mutated that cause epilepsy?

A

ion channels eg KCNJ10

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23
Q

Which genes muted that causes autoimmune disorder, rheumatoid arthritis?

A

TNF-alpha receptor

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24
Q

What genes mutated that causes diabetes?

A

glucokinase, transcription factors, potassium channel

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25
Q

What genes mutated can cause altered headsize?

A

ASPM

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26
Q

What insight for hypertension?

A

basic mechanism of blood pressure regulation

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27
Q

What insights for epilepsy?

A

role of ion channels in CNS disorders

28
Q

What insights for autoimmune disorders, rheumatoid arthritis?

A

mechanism of immune regulation; therapy for RA

29
Q

what insights for head size?

A

regulation of neuronal growth, neuronal migration and cytoskeleton

30
Q

What insight is there for diabetes?

A

development and function of pancreatic B-cells

31
Q

What is the mechanism of action for glucose homeostasis

A

insulin comes into cell via facilitated diffusion
This is then synthesised into ATP
The ATP binds with ATP sensitive potassium channels- these close and cause depolarisation
Ca voltage gated channels open
Calcium enters
Exocytosis of insulin and amylin

32
Q

Pharmacogenetics:

A

studying an individuals genetic makeup in order to predict responses to a drug and guide prescription

33
Q

Pharmacogenomics:

A

analysing entire genomes, across groups of individuals , to identify the genetic factors influencing responses to a drug

34
Q

What does a chromosomal rearrangement called the Philadelphia chromosome cause?

A

Chronic myelogenous leukemia (can generally recover from treatment)

35
Q

how many nucleotides make up the DNA sequence?

A

3 × 109 nt

36
Q

What is the difference between DNA and RNA

A

-OH group on C = RNA

37
Q

Why is RNA more unstable than DNA?

A

transient because the reactions are faster due to -OH group reacting with P

38
Q

What direction are DNA sequences written in? (direction DNA and RNA are synthesized)

A

5’->3’

39
Q

What is a sense strand on DNA?

A

coding strand, is the segment within double-stranded DNA that runs from 5’ to 3’. It is complementary to the antisense strand of DNA, or template strand, which runs from 3’ to 5’.

40
Q

What are okazaki fragments?

A

The short sequences of DNA nucleotides that are synthesized discontinuously

41
Q

What is the long arm of a chromosome marked as

A

q

42
Q

What is the short arm of a chromosome marked as?

A

p (petit)

43
Q

What is the telomeric repeat sequence?

A

TTAGGGG

44
Q

Is TERT active in somatic cells (any cell except reproductive)?

A

No it is inactive

45
Q

What is TERT?

A

telomerase- it causes unregulated cell division

46
Q

What is TERT target useful for?

A

Some cancer treatments- as it causes unregulated cell division

47
Q

What does qtel stand form?

A

The telomere on the q branch

48
Q

Chromosome coordinates:

A

genetic reports must specify the version of the reference genome being used (banding is used to identify mutation locations)

49
Q

Diploid:

A

containing two complete sets of chromosomes, one from each parent- so copies of every gene

50
Q

Haploinsufficiency:

A

a dominant phenotype in diploid organisms that are heterozygous for a loss-of-function allele.

51
Q

What is dosage compensation?

A

Jump to search
Dosage compensation is the process by which organisms equalize the expression of genes between members of different biological sexes.

52
Q

Chromosomes:

A

threadlike structure of nucleic acids and protein found in nuclus of most living cells- carry genetic information in the form of genes

53
Q

Chromatids:

A

each of the thread like strands, into which a chromosome divides longitudinally during cell division - each contains a double helix of DNA

54
Q

How many Mbp double stranded DNA per haploid genome?

A

3,000

55
Q

What percentage of DNA is non-coding?

A

90%

56
Q

Approx howmany protein-coding genes in Human genome?

A

20,000

57
Q

What shape is mitochondrial genome and how many genes are there?

A

circular and 37 genes

- rRNA, tRNA, ox-phos

58
Q

Where does mitochondrial DNA come from?

A

All from the mother

59
Q

Where is the mitochondrial DNA located?

A

in the cytoplasm not the nucleus

60
Q

example of single-copy sequences

A

Genes

61
Q

Examples of repetitive sequences in the human genome:

A

interspersed repeats (eg Alu), satellite DNA (large blocks of repetitive sequences, Heterochromatin

62
Q

Transcription:

A

copying into RNA

63
Q

Translation:

A

Turning RNA into proteins

not all. short and long non-coding RNA inc miRNAs

64
Q

What are genes?

A

functional units of DNA

65
Q

Components that make up genes:

A

Exons, Introns, Regulatory sequences

66
Q

What are regulatory sequences?

A

promoters (eg TATAA), enhancers, locus control regions

EMS (1 decks)

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