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G and H > GH Revision - Part 1 (1-7) > Flashcards

GH Revision - Part 1 (1-7) Flashcards

week 1- 4

1
Q

What is a transcriptome?

A

all transcripts,

including alternatively spliced and structural RNAs

tissue specific!

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2
Q

What is a proteome?

A

all the proteins

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3
Q

What is the Exome?

A

The PROPORTION of genome that encodes for functional proteins/ exons

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4
Q

What are SNPs and what can we predict through identifying the prexene/ absence of them?

A

SNPs = difference or mutation in a single DNA base pair at a specific position in a population.

Some are very important in helping us predict disease risk, expressed traits and drug response.

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5
Q

How much of the total genome sequence does the protein coding region encompass?

A

1%

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6
Q

What are the 5 characteristics of a genome?

A

1- repetitive sequences (50%)
2- Pseudogenes (2000)
3- Simple sequence repeats
4- genes in introns of other genes
5- significant person-person structural variation

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7
Q

What makes up the ‘gene-dense’ parts of the human genome?

A

Urban centres= rich in G and C

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8
Q

How did the human genome project change science and medicine?

A

Spot potential disasters (cystic fibrosis, Huntington’s disease, cancer, arthritis, diabetes) LONG before it presents

expected to prove that high number of protein-coding genes = organism complexity BUT showed Non-Coding RNAs dramatically increase with developmental complexity

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9
Q

At what stage in Mitosis do human cells briefly contain twice the number of independent chromosomes?

A

Anaphase

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10
Q

Homologous chromosomes vs sister chromatids.

A

HC= same size, same genes in same location BUT DIFFERENT ALLELES (mum and dad)

SC= same size, same genes in same loci and SAME ALLELES

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11
Q

What is the process for viewing chromosomes?

A

a fetal cell sample taken (Ammniocentesis or chorionic villi sampling) –> centrifuge to collect cells –> growth of cells in culture medium,–> treat with Colchicine for hrs –> drop cells onto slide to spread chromosomes

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12
Q

Define metacentric, submetacentric and acrocentric.

A

Meta= divided equally

Sub= one long arm and one short

Acorcentric = located near one end

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13
Q

What was the scientific objectives of the human genome project?

A

sequence all DNA in the human genome , identify and map all of the genes within the genome

develop tools to obtain and analyse the date and make the information available to the public

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14
Q

What is Tay-Sachs disease and clinical symtoms?

A

What
- progressive neurodegenerative disoder in which brain cells are damaged and decline in CNS function

appear normal until 3-6months, then have:
-muscle weakness
-lose motor skills
-lose ability to reach and hold
-lose ability to smile
-progressive hearing and vision loss
-paralysis

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15
Q

Inheritance and cause of Tay-Sachs disease

A

Autsomal Recessive

mutation in HEXA gene (15q23)

HEXA gene encodes an enzyme beta-hexoaminidase A = affected = prevents breakdown of GM2 = accumulation of lipid in brain and spinal cord

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16
Q

What is the naming convention for chromosomes?

e.g Xp11.2

A

X= chromosome

P= arm

1= region

1= band

.2= sub-band

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17
Q

what are the five main causes of chromosome abnormalities and what do they result in?

A

Anaphase lag = monosomy

Chromosome missegregation = monosomy, trisomy and triploids and tetraploids.

meioric/mitotis failure = triploids and tetraploids

dispermy = triploids and tetraploids

incorrect DNA repair = deletions, duplications, Ring, translocations and inversions

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18
Q

triploidy vs trisomy

A

trisomy= extra copy of chromosomes

triploidy= three COMPLETE sets of chromosomes

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19
Q

What is anaphase lag?

A

one chromosomes fails to migrate to pole of spindle and is hence excluded from the daughter cell

monosomy

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20
Q

what is chromosome Missegregation ?

A

Non-disjunction

homologous chromsomes or sister chromatids fail to separte

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21
Q

Meiosis I vs Meiosis II erros with Non-Disjunction

A

I= three copies, non-idencial = all abnormal

II= three copies, two identical one not = 50% abnormal

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22
Q

what are the 4 ways in which meiotic and mitotic failure and dispermy arise?

A

1- complete non dis-junction
2- error in gamete formation (cytoplasm or cell as whole fail to divide)
3-error i early mitotic division (cytokinesis does not occur)
4- errors at fertilisation (dispermy, haploid egg + 2 haploid sperm)

23
Q

What are the two types of inversions? chaacteristics

A

pericentric (includes centromere) and paracentric

don’t always result in abnormalities (if breakpoints do not disrupt genes)

24
Q

what are translocation and what are their two types?

A

movement of genetic material to another nonhomologous chromosomes

insertional

reciprocal (exchange)

25
Q

what are Robertsonian Translocations and what is the result?

A

centric fusions of acrocentric chromosomes → 2 acentric + 1 dicentric

- no net gain or loss of genetic material ∴ normal phenotype (balanced)

increased risk for fetal abnormalities or miscarriage

26
Q

feature of deletions

A

size roughly correlates with severity of abnormality

27
Q

How do ring chromosomes form?

A

when telomeres are lost, and sticky chromosome ends fuse

28
Q

what karyotype disorders can Arise from non-disjunction?

A

trisomy 13, 18 and 21 or monsomy X (turners)

29
Q

what are the genotypic and phenotypic ratios for F1 hybrid cross?

A

G= 1:2:1
P= 3:1

30
Q

what is the phenotypic ratio for Di-hybrif cross?

A

9:3:3:1

31
Q

what is conditional probability?

A

probability of one event, given that another event has already occured

(offspring’s genotype depends on parents)

32
Q

Co-dominance vs incomplete dominance

A

Co= both alleles are fully expressed

incomplete= mix

33
Q

epistasis

A

alleles in one gene masking the phenotypic effect of another

34
Q

Bombay phenotype

A

hh individuals are blood type O, regardless of their alleles at the ABO locus

35
Q

what is the formula for recombination distance?

A

no. of recombinants/ total progeny

36
Q

what is the general format for mutations at DNA or RNA level?

A

prefix, position, reference base >new base

e.g g.AA>T

37
Q

what is the general format for mutations at protein level?

A

prefix, amino acid affected, position number, new amino acid

38
Q

Mendle’s Law of segregation

A

for any trait, the pair of genes of each parent will separate and nl==only one gene from each will pass on

39
Q

Mendel’s law od independent assortment

A

two dif alleles will randomly assory= their alleles in gamete formation due to random arrangement of homologous chromosomes

40
Q

what are the Automsomal recessive disorders?

A

Cystic fibrosis
PKU
Sickle Cell
Haemachromotosis
thalassemia

41
Q

what are the features of autosomal recessive inheritance?

A

Horizontal - one or more affected siblings

parents and children normally unaffected

each subseuent sibiling of affected = 1/4 chance being affected

unaffected sibling of affected = 2/3 risk carrier

parents must be carriers

male and female equal

42
Q

what is the carrier risk for cystic fibrosis?

A

1/25

43
Q

compound heterozygotes

A

two different alleles, both of which are defective

44
Q

What are the autosomal dominant diseases?

A

(growth)
Achondroplasia and hypochondroplasia

(neurological)
Huntington’s Disease
Myotonic dystrophy

(tumour supression)
retinoblastoma
neurofibromatosis

45
Q

What are the features of Autosomal dominant?

A

vertical degree pattern

each child of affected parent has 1 in 2 chance of being affacted

males and females equallu affacted

unless stated otherwise, those marrying in = wild type

46
Q

Expression and penetrance

A

Expression
-severity or mildness

Penetrance
-measure of chance
-some fully penetrant some only manifest if meet conditions

47
Q

What is anticpation and what disorders does it impact?

A

increasing disease severity and or earlier age of onset in successive generations

repeat disorders (huntingtins and myotinc dystrophy)

48
Q

X-linked recessive inheritance characteristics

A

Knight’s move pedigree pattern

parents and children normally health

NEVER transmitted FATHER –> SON

mostly males

female carriers

subsequent brothers of affacted boys = 50% chance

Sisters NOT affacted = 50% chance CARRIER

49
Q

features of X-linked dominant

A

AFFECTED MALE passes to ALL daughters and NO sons

50% chance mother passes on

at least 1 parent with trait

more prevalent in females

50
Q

Sex linked vs limited vs influenced

A

linked = controlled by genes on sex chromosomes

limited = only observed in one sex

influenced= alleles are dominant in one sex and recessive in the other

51
Q

Mitochondrial inheritance inheritance patterns

A

vertical

female –> all kids

children of affected men NEVER affected

extremely vairble due to heteroplasmy and homosplasmy

52
Q

Heteroplasmy and mitochondrial diseases

A

= cell or organism in which ALL copies of mitochondiral DNA are NOT the same

influences disease penetrance and expressivity

53
Q

Five major points of pedigree analysis:

A

1- unaffected indv cannot have dominant disease

2- marrying in = assume wild type (not carriers)

3- unaffacted individual can be a carrier and must be indicated on pedigree

4- X-linked= single recessive can impact male

5- father transmits his allele of X-linked to daughter but not son, mother gives to both

G and H (16 decks)

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