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Uni Biology > Human bio: genetics + pedigrees > Flashcards

Human bio: genetics + pedigrees Flashcards

1
Q

what is genetics (4)

A

study of genes/ genomes and their variation

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2
Q

how is DNA packaged so tightly

A

it is wrapped around histone proteins

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3
Q

mitotic chromosome

A
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4
Q

nucleosome definition

A

each particular histone with DNA wrapped around it

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5
Q

minor and major grooves in DNA helicial structure diagram

A
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6
Q

what are the purines

A

A and G

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7
Q

what are the pyrimidines

A

T and C (bases for purine/pyrimidine pairs)

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8
Q

what are genes known as

A

transcriptional units

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9
Q

what is the exome

A

all of the exons in a genome

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10
Q

what is the transcriptome

A

RNA copies of the active protein-coding genes

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11
Q

what is the proteome

A

the cell’s repertoire of proteins

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12
Q

what is the DNA in between genes called (4)

A

intergenic DNA

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13
Q

what do all your genes do

A
  1. expression, replication, and maintenance of the genome
  2. signal transduction
  3. various other activities
  4. general biochemical functions of the cell
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14
Q

what does RNA polymerase do specifically (4)

A

RNA polymerase (enzyme obviously) forms a complex with DNA and other proteins to initiation transcription - typically upstream of first exon (start codon)

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15
Q

a single gene can give rise to more than one transcript - results in different forms of a protein

A
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16
Q

what are housekeeping genes

A

genes that are regulatory genes that are needed in all cells

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17
Q

what does non-coding DNA do

A

regulatory elements
non-coding RNA
other sequences including from viruses (HERVs)

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18
Q

epigenetics

A

DNA packaging via histone modificaiton can influence the can accessibility of DNA binding proteins sites and in turn expression

methylation of CpG islands in promotor regions can affect expression

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19
Q

why is gene regulation good ?

A

can regulation can be critical for homeostasis, development and in disease, can be responsive to the environment

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20
Q

what are post-transcriptional control microRNAs

A

~22 bp long
can originate from precursor RNA
do not code for amino acids
bind to complementary region on mRNA
can block transcription of RNA transcript (and leads to degradation of mRNA)

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21
Q

explain chemical tag DNA modifications

A

chemical modifications (called tags) to DNA and histones can alter the way DNA is accessible/packaged (responsive to environment)

KEEP IN MIND!!! that these modifications do NOT alter the DNA sequence, they’re reversible and can be inherited

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22
Q

what can epigenetics help us to (4) determine

A

cell lineages and differentiation

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23
Q

explain the redundancy of the universal genetic code

A

an amino acid may have one for codon that codes for it

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24
Q

learn tRNA structure lol (be able to annotate a diagram)

A
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25
Q

explain the transcription modification of information

A

chromatin remodelling
alternative splicing
microRNAs block protein synthesis

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26
Q

explain the translation modification of information

A

protein folding
polypeptides shortened
sugars added
polypeptides aggregate

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27
Q

two types of G0 phases

A

quiescent G0
terminally differentiated G0

28
Q

what are cancer cells essentially

A

cells with cell senescence (where cells enter irreversible cell growth arrest)

29
Q

Explain the G1/S checkpoint

A

its a restriction point, is it environmentally favourable?

30
Q

explain the G2/M checkpoint

A

is all DNA replicated? is environmentally favourable?

31
Q

metaphase to anaphase transition

A

are all chromosomes attached to spindle?

32
Q

checkpoint during S phase

A

there is a DNA damage checkpoint towards the end of the S phase of the cell cycle

33
Q

telomere shortening

A

results in an altered structure that initiates signals for cell senescence

34
Q

3’ to 5’ endonuclease activity

A

DNA polymerase can reverse its direction if it detects an incorrect nucleotide has been placed

35
Q

what can frameshift mutation do

A

frameshift in coding sequences can create early stop (truncated) and/or polypeptide

36
Q

translocations

A

Fragment of a chromosome is moved
(translocated) from one chromosome
to another

The balance of genes is still normal
but transcription of genes can be
altered sometimes due to changes in
gene regulatory elements

37
Q

types of DNA variation

A

point mutations (single nucleotide polymorphisms)

simple indel (incl repeats)

copy number variation (CNV) (gene copy duplication)

chromosome inversion/translocation

chromosome number

38
Q

mutations can

A

cause changes to protein structure and function and are random

39
Q

DNA polymerase

A

has a high fidelity rate but can make rare errors (mutations)

40
Q

meiosis start with

A

2n (diploid) but finishes with 1n (haploid)

41
Q

reductional division of meiosis

A

segregation of homologs during meiosis I

42
Q

equatorial division

A

segregation of chromatids during meiosis II

43
Q

what are the products of meiosis

A

four different haploid gametes - half received allele A and the other half received allele a

44
Q

spermatogenesis

A

spermatogonium (diploid)

primary spermatocyte
1st meiotic division: secondary spermatocyte (haploid)

2nd meiotic division: spermatids (haploid)

spermatid maturation into sperm cells (haploid) in epidymis (nourised by sertoli cells)

45
Q

oogenesis

A

production of gametes in females

46
Q

oogonia

A

develop into primary oocytes by division + development

primary oocytes rest in prophase I

46
Q
A

From puberty Follicle stimulating Hormone (FSH) stimulates one Oocyte a month to
complete meiosis I

47
Q
A

Result: 2 cells: Secondary Oocyte and 1st polar body

48
Q
A

Secondary Oocyte develops to metaphase II, rests in this state till after ovulation
Only if fertilized completion of Meiosis I (casts off second polar body)

49
Q

genetic imprinting

A

for most genes, expression of maternal and paternal form is typical but for some genes only one copy is expressed (genetic imprinting)

50
Q

non-dysjunctioning during meiosis can

A

result in differences in chromosome numbers

51
Q

trisomic and monosomic meaning

A

trisomic = 3 pairs
monosomic = 1 pair

52
Q

what does karyotype enable

A

enables visualisation of gross changes in chromosome number and structure

53
Q

Triploidy (69,XXX or 69,XYY)

A

1-3% of all conceptions; almost never born live and do not
survive long

54
Q

ANEUPLOIDY (AUTOSOMES)

Nullisomy (lacking a pair of
homologs)

A

lethal at pre-implantation stage

55
Q

ANEUPLOIDY (AUTOSOMES)

Monosomy (one chromosome
missing)

A

lethal during embryonic development

56
Q

ANEUPLOIDY (AUTOSOMES)

Trisomy (one extra
chromosome)

A

usually lethal during embryonic or fetal# stages, but individuals
with trisomy 13 (Patau syndrome) and trisomy 18 (Edwards
syndrome) may survive to term; those with trisomy 21
(Down syndrome) may survive beyond age 40

57
Q

ANEUPLOIDY (SEX CHROMOSOMES)

Additional sex chromosomes

A

individuals with 47,XXX, 47,XXY, or 47,XYY all experience relatively minor problems and a normal lifespan

58
Q

ANEUPLOIDY (SEX CHROMOSOMES)

Lacking a sex chromosome

A

although 45,Y is never viable, in 45, (Turner syndrome), about 99% of cases abort spontaneously; survivors are of normal intelligence but are infertile and show minor physical diagnostic characteristics

59
Q
A

In humans, the embryonic period spans fertilization through to the end of the eighth week of
development. Fetal development then begins and lasts until birth.

60
Q

turner syndrome

A

karyotype of only 45 X, 1:2000 females, only viable monosomy (missing one chromosome) in humans, genetically female, short stature, and normal intelligence, no sexual maturation during puberty and are sterile, often congenital deformities

origin of disjunction may be I or II in either parent

61
Q

euploidy

A

diploidy (2n)
(two sets of each homolog)
haploidy (1n)
(one set of each homolog)

polyploidy = more than two chromosome sets)

triploidy (3n)
(three chromosome sets)

tetraploidy (4n)
(four chromosome sets)

62
Q

aneuploidy

A

monosomy (2n -1)
(one chromosome missing)

trisomy (2n +1)
(one extra chromosome)

63
Q

important genetic principles

A
  1. genes have multiple effects
    pleiotropy
  2. effect of a gene varies between individuals
    variable expression
  3. the effect of the gene depends upon the environment
    genotype-environment interaction
  4. several different genes can have the same effect
    genetic heterogeneity
64
Q
A

Uni Biology (29 decks)

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