Chrom and Gam Flashcards

1
Q

What is the defining feature of all evolving living organisms?

A

ability to reproduce

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the requirements for genes to be functional?

A

→replicate
→separate its 2 copies at mitosis- eliminating mutations
→maintain itself between generations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

How can the same gene be specific?

A

→ by having alternative promotors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Give an example of a protein that uses different promotors depending on the tissue

A

→CYP19A1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the products of alternative splicing called?

A

→isoforms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

How can the protein be modified once made?

A

→Post-translational modification eg phosphorylation,

→Glycosylation i.e. adding on carbohydrates to protein, making protein more stable and soluble

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What happens to FSH as women age?

A

→more variants of FSH which are not as effective

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are the DNA requirements for sexual reproduction?

A

→Fusion of haploid cells (gametes) to create unique diploid progeny

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the advantages of sexual reproduction?

A

→Prevents the accumulation of genetic mutations
→Increase in genetic diversity
→Maintenance occurs because of the advantage of genetic variability

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the numbers of gene in the X and Y chromosomes?

A

X chromosome → 1000 working genes
Y chromosome → 86 working genes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is a gamete?

A

→a haploid cell specialised for sexual fusion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are gametes formed from?

A

→formed from germ line cells: primordial germ cells
→progenitors of both sperm and egg that migrate into the gonad and then differentiate to either male or female gametes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What happens to the two chromosomes during S-phase as replication happens?

A

→remain attached to each other

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is a chromatin?

A

→uncondensed form of DNA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What happens in prophase?

A

→chromatin condense to form chromosomes as DNA wraps around histones
→when DNA is condensed it cannot be replicated and gene activity is shut down
→nuclear membrane begins to break down
→mitotic spindle forms (duplicated during interphase)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What happens in metaphase?

A

→mitotic spindles attach to the chromosomes at the equator

17
Q

What happens in anaphase?

A

→the sister chromatids of each chromosome begin to separate
→spindle fibres pull chromosomes to each pole

18
Q

What happens in telophase?

A

→a nuclear envelope forms around each group of chromosomes at each pole
→mitotic spindle disassembles

19
Q

What are the two important sources of genetic variation?

A

→crossing over recombination during prophase I
→independent assortment during metaphase I

20
Q

What is a difference between meiosis I and meiosis II?

A

→no interphase or replication in meiosis II

21
Q

Why is meiosis advantageous?

A

→random distribution of male and female homologous chromosomes
→chromosomal crossing over
→keeps the number of chromosomes constant between generations

22
Q

Compare mitosis and meiosis

A

mitosis
→one cell division
→produces two diploid cells
→somatic cells
→growth and repair
→no Exhange of genetic material
→daughter cells genetically similar

23
Q

Describe crossing over

A

→Corresponding pieces of chromatids of maternal and paternal homologues (non-sister chromatids) are exchanged during synapsis when the homologues are aligned side by side.

Each of the affected chromatids has a mixture of maternal and paternal genetic information

24
Q

Why does crossing over not occur between X and Y chromosomes?

A

→They are hemizygous to each other & so recombination proved harmful
→PAR allows the X & Y chromosomes to pair and properly segregate during meiosis in males

25
What allows X and Y chromosomes to pair and properly segregate during meiosis in males?
→PAR →found on P-arm on X and Y chromosome
26
What is aneuploidy?
gain or loss of chromosomes from the normal 46
27
What is the common cause for spontaneous miscarriages?
aneuploidy- 47 chromosomes
28
What is a main cause of aneuploidy?
abnormal spindle pulling failure of meiosis-specific cohesions release
29
What is non-disjunction?
failure of homologous chromosome to separate during MI or sister chromatids to separate during MII, resulting in extra or missing chromosomes
30
What are the viable trisomies?
Trisomy 21 (aka Down’s syndrome, 1:750 births) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome)
31
Which type of aneuploidy is more viable?
sex chromosome Turner- 45X Klinefelter- 47 XXY
32
Describe Turner's syndrome
45X caused by complete or partial absence of 2nd sex chromosome phenotype=short stature, primary amenorrhea, webbed neck (classic Turners) candy cane aortic arch
33
Describe the Klinefelter syndrome
caused by presence of two X and one Y chromosome variable phenotype=taller than average, small testes producing reduced testosterone, infertility, curved pinky fingers
34
What risk increases with maternal age and why
risk of trisomy Recombination failure Premature homologue separation Premature sister chromatid separation due to loss of cohesion between sister centromeres
35
Why does oogenesis result in one egg and polar bodies?
unequal cytokinesis