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Dysfunction > NCA > Flashcards

NCA Flashcards

1
Q

What happens in G1?

A

→Cell makes a variety of proteins needed for DNA replication and grow

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2
Q

What happens in S-phase?

A

→chromosomes are replicated so that each chromosome now consists of two sister, identical chromatids

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3
Q

What happens in G2-phase?

A

→synthesis of proteins especially microtubules

→finish growing in size

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4
Q

What is metaphase?

A

→chromosomes condense
→become distinguishable
→they align in the centre of the dividing cell.

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5
Q

What type of chromosomes are used for karyotyping?

A

→Metaphase chromosomes

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6
Q

What are the two purposes of meiosis?

A

→produces (haploid) gametes with 23 chromosomes

→introduces variation in the resulting cells through independent assortment and recombination

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7
Q

What is the difference in cells produced from meiosis in males and females?

A

→In males= production of four haploid sperm cells.
→In females, only one of the four haploid cells produced forms the egg,
→the other three products of meiosis form the polar bodies

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8
Q

What is the synaptonemal complex?

A

→a lattice of proteins between the homologous chromosomes

→supports crossing ovver

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9
Q

Describe the formation of the synaptonemal complex

A

→first forms at specific locations →then spreads to cover the entire length of the chromosomes

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10
Q

What is synapsis?

A

→tight pairing of the homologous chromosomes

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11
Q

What happens in synapsis?

A

→the genes on the chromatids of the homologous chromosomes are aligned precisely with each other

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12
Q

What allows the X and Y chromosomes to pair up during prophase I even though they are not homologous?

A

→a small region of homology

→A partial synaptonemal complex

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13
Q

What is crossing over?

A

→reciprocal breaking and re-joining of the homologous chromosomes

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14
Q

What is the result of crossing over?

A

→exchange of chromosomal segments and new allele combinations

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15
Q

What happens in meiosis I?

A

→Align as 23 bivalents
→Allows for chiasma formation (i.e. recombination)
→Pulls apart homologues from one another
→Daughter cells have 23 chromosomes (each with 2 chromatids)

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16
Q

What happens in meiosis II?

A

→Align as independent chromosomes
→Sister chromatids pulled apart
→Daughter cells have 23 chromosomes (each of 1 chromatid)

17
Q

What is the difference between the chromosomes in meiosis I and II?

A

→meiosis I has daughter cells have 23 chromosomes each with 2 chromatids

→meiosis II has daughter cells have 23 chromosomes (each of 1 chromatid)

18
Q

What are metacentric chromosomes? Give examples

A

→p & q arms even length

→1-3, 16-18

19
Q

What are submetacentric chromosomes? Give examples

A

→p arm shorter than q

→4-12, 19-20, X

20
Q

What are the acrocentric chromosomes?

A

→Long q, small p

→p contains no unique DNA

→13-15, 21-22, Y

21
Q

How are numerical chromosomal changes detected?

A

→karyotyping
→FISH
→QF-PCR
→NGS

22
Q

How are structural chromosomal changes detected?

A

→karyotyping
→FISH
→array CGH

23
Q

What is polyploid?

A

→multiple of the haploid number (e.g. 4n=92)

24
Q

What is aneuploid?

A

→chromosome number which is not an exact multiple of haploid number - due to extra or missing chromosome(s)

25
Q

What us non-disjunction?

A

→failure of chromosomes/chromatids to separate correctly at anaphase
→ can happen in meiosis I and II

26
Q

What is the primary mechanism of aneuploidy?

A

→non-disjunction

27
Q

Give examples of autosomal aneuploidies

A

→Trisomy 13 (Patau’s, 2 in 10,000 births)
→Trisomy 18 (Edward’s, 3 in 10,000)
→Trisomy 21 (Down’s, 15 in 10,000)

28
Q

Give examples of sex chromosomes aneuploidies

A

→Turner’s (45,X) (1 in 5000 female births)
→Triple X syndrome (47,XXX) (1 in 1000 female births)

→Klinefelter’s (47,XXY) (1 in 1000 male births)

29
Q

What can sex chromosome aneuploidies affect?

A

→fertility

30
Q

What can happen as a result of mitotic non-disjunction?

A

→majority of cells 2n, some 2n+1 = mosaic

31
Q

What happens if non-disjunction happens in gametes?

A

→all cells are affected

32
Q

What happens to monosomic cells in mitosis?

A

→they die

33
Q

What is mosaicism?

A

→presence of two or more genetically different cell lines derived from a single zygote
→thought to be less severe

34
Q

What is trisomy rescue?

A

→cell recognises wrong number of cells and throws out a chromosome randomly
→may only end up with only maternal or paternal copies of the cells

35
Q

What is partial trisomy and monosomy?

A

→microdeletion/duplication syndromes

→Lacking parts of a chromosome or acquired parts of chromosome

Dysfunction (29 decks)

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