GIM week 1

Question 1

What genetic condition can cause eye lens dislocation

Answer 1

Marfan syndrome

Question 2

Human Genetics:

Answer 2

the sciences of heredity and variation in humans

Question 3

Medical genetics:

Answer 3

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

Question 4

Molecular genetics:

Answer 4

the study of the structure and function of individual genes

Question 5

Clinical genetics

Answer 5

the application of genetics to diagnose and patient care

Question 6

4 genetic causes of inherited disorders:

Answer 6

single gene, chromosomal, mitchochondrial, imprinted

Question 7

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

Answer 7

Cancer profiling

Mechanism of disease course

Question 8

Pharmacogenetics:

Answer 8

who will respond in what way, good or bad

Question 9

Germline mutations:

Answer 9

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

Question 10

Somatic mutations:

Answer 10

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

Question 11

Non genetic tests:

Answer 11

blood tests - enzyme assays. Haematology

X-rays- skeletal dysplasia

Question 12

Genetic tests:

Answer 12

Genomic architecture - cytogenetics, array-based techniques

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

Question 13

What is genetic counselling?

Answer 13

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

Question 14

what does 100kg refer to in genetics?

Answer 14

100,000 genomes

Question 15

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

Answer 15

1/4 to 1/3

Question 16

which mendelian/monogenic forms cause hytertension? Give an example

Answer 16

rare syndromes of hypo- or hypertension eg pseudohypoaldosteronism liddle syndrome

Question 17

which mendelian/monogenic forms cause epilepsy?

Answer 17

familial epilepsies

Question 18

which mendelian/monogenic forms causes autoimmune disorders

Answer 18

monogenic autoinflammatory disorders (eg TRAPS)

Question 19

which mendelian/monogenic forms cause altered head size

Answer 19

microcephaly (small brains)

Question 20

which mendelian/monogenic forms cause diabetes?

Answer 20

familial forms (type 2), MODY

Question 21

Which genes are mutated that cause hypertensions?

Answer 21

the ones involved in renal salt balance

Question 22

Which genes are mutated that cause epilepsy?

Answer 22

ion channels eg KCNJ10

Question 23

Which genes muted that causes autoimmune disorder, rheumatoid arthritis?

Answer 23

TNF-alpha receptor

Question 24

What genes mutated that causes diabetes?

Answer 24

glucokinase, transcription factors, potassium channel

Question 25

What genes mutated can cause altered headsize?

Answer 25

ASPM

Question 26

What insight for hypertension?

Answer 26

basic mechanism of blood pressure regulation

Question 27

What insights for epilepsy?

Answer 27

role of ion channels in CNS disorders

Question 28

What insights for autoimmune disorders, rheumatoid arthritis?

Answer 28

mechanism of immune regulation; therapy for RA

Question 29

what insights for head size?

Answer 29

regulation of neuronal growth, neuronal migration and cytoskeleton

Question 30

What insight is there for diabetes?

Answer 30

development and function of pancreatic B-cells

Question 31

What is the mechanism of action for glucose homeostasis

Answer 31

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

Question 32

Pharmacogenetics:

Answer 32

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

Question 33

Pharmacogenomics:

Answer 33

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

Question 34

What does a chromosomal rearrangement called the Philadelphia chromosome cause?

Answer 34

Chronic myelogenous leukemia (can generally recover from treatment)

Question 35

how many nucleotides make up the DNA sequence?

Answer 35

3 × 109 nt

Question 36

What is the difference between DNA and RNA

Answer 36

-OH group on C = RNA

Question 37

Why is RNA more unstable than DNA?

Answer 37

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

Question 38

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

Answer 38

5'->3'

Question 39

What is a sense strand on DNA?

Answer 39

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'.

Question 40

What are okazaki fragments?

Answer 40

The short sequences of DNA nucleotides that are synthesized discontinuously

Question 41

What is the long arm of a chromosome marked as

Answer 41

q

Question 42

What is the short arm of a chromosome marked as?

Answer 42

p (petit)

Question 43

What is the telomeric repeat sequence?

Answer 43

TTAGGGG

Question 44

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

Answer 44

No it is inactive

Question 45

What is TERT?

Answer 45

telomerase- it causes unregulated cell division

Question 46

What is TERT target useful for?

Answer 46

Some cancer treatments- as it causes unregulated cell division

Question 47

What does qtel stand form?

Answer 47

The telomere on the q branch

Question 48

Chromosome coordinates:

Answer 48

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

Question 49

Diploid:

Answer 49

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

Question 50

Haploinsufficiency:

Answer 50

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

Question 51

What is dosage compensation?

Answer 51

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

Question 52

Chromosomes:

Answer 52

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

Question 53

Chromatids:

Answer 53

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

Question 54

How many Mbp double stranded DNA per haploid genome?

Answer 54

3,000

Question 55

What percentage of DNA is non-coding?

Answer 55

90%

Question 56

Approx howmany protein-coding genes in Human genome?

Answer 56

20,000

Question 57

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

Answer 57

circular and 37 genes | - rRNA, tRNA, ox-phos

Question 58

Where does mitochondrial DNA come from?

Answer 58

All from the mother

Question 59

Where is the mitochondrial DNA located?

Answer 59

in the cytoplasm not the nucleus

Question 60

example of single-copy sequences

Answer 60

Genes

Question 61

Examples of repetitive sequences in the human genome:

Answer 61

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

Question 62

Transcription:

Answer 62

copying into RNA

Question 63

Translation:

Answer 63

Turning RNA into proteins | not all. short and long non-coding RNA inc miRNAs

Question 64

What are genes?

Answer 64

functional units of DNA

Question 65

Components that make up genes:

Answer 65

Exons, Introns, Regulatory sequences

Question 66

What are regulatory sequences?

Answer 66

promoters (eg TATAA), enhancers, locus control regions