Chromosomal Abnormalities (Megee L1) Flashcards

0
Q

Two key differences between mitosis and meiosis

A
  1. meiosis: pat. and mat. derived homologs pair at prophase I
    mitosis: pat. and mat. derived homologs segregate independently
  2. meiosis: reciprocal recombination between mat. and pat. sister chromatids = chiasmata between homologs
    mitosis: recombination rare

(also, mitosis 2n –> 4n –> 2n
meiosis 2n-> 4n -> 2n -> n)

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1
Q

Cell cycle - Mitosis

A

Interphase [G1 –> S –> G2] –> Mitotic [M] phase

Within M-phase: Prophase -> Prometaphase -> Metaphase -> Anaphase -> Telophase -> cytokinesis

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2
Q

What is a chiasma (pl. chiasmata)? How many are there per homolog pair and how do they form?

A

a physical linkage between homologs that occurs during the onset of meiosis (prophase I) allowing for reciprocal recombination between homologs.
2-3 per homolog pair
each link requires two double-strand breaks in order to form

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3
Q

At what points during cell division do chromosomal abnormalities arise and what are they?

A

Meiosis: Germ line mutations; genetic reassortment during meiotic crossovers

Mitosis: Somatic and Germ line mutations; mosaicism

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4
Q

What are pseudoauosomal regions?

A

Regions of sex chromosomes that can cross over during male meiosis. That is, part of the Y chrom. can cross over with part of the X chrom.
Allows for proper alignment and segregation of these two chromosomes
Often appears as an autosomal pattern in a pedigree.

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5
Q

What is a bivalent structure in and what is the structure that holds a bivalent together at the beginning of prophase I?

A

When mat. and pat. homologs become paired (synapsed) along their entire length.
Held together by synaptonemal complex (proteinaceous structure)

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6
Q

At the end of prophase I what holds the bivalent together?

A

just the chiasmata since the synaptonemal complex has disassembled.

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7
Q

When does recombination occur?

What is the total estimated variability this can produce?

A

prophase I of meiosis

80^23 woah

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8
Q

What is the difference between sister chromatids and homologous chromosomes?

A

Sister chromatids are generated when a single chromosome replicates. Now there are two copies

Homologous chromosomes are two different copies of a chromosome (one from mom, one from dad)

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9
Q

In meiosis, when do sister chromatids and homologous chromosomes separate?

A

Homologous chromosomes: Meiosis I; Anaphase I

Sister chromatids: Meiosis II; Anaphase II

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10
Q

What is nondisjunction?

A

Abnormal segregation of homologues or sister chromatids.

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11
Q

Metacentric, Submetacentric, Acrocentric?

A

Meta: centromere in the center
Submeta: centromere slightly off of center
Acro: centromere near one end

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12
Q

Acrocentric is unique. Describe. Which human chromosomes are acrocentrei?

A

On the small end, they have a small bit of chromatin called a satellite attached to the centromere by a stalk.

13, 14, 15, 21, 22

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13
Q

What is contained in the satellite and the stalk of an acrocentric chromosome?

A

Satellite region is many bp repeats.

Stalk contains DNA that encodes for rRNA (which, as we know, makes up a large portion of the ribosomal structre) as well as repeats.

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14
Q

What is Giemsa?

A

Stain used to identify individual chromosomes. Produces an unique banding pattern on a chromosome.

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15
Q

The short and long arms of a chromosome are labeled as what?

A
p = short arm (petite)
q = long arm
16
Q

What does “der” stand for?

A

derivative. when there is translocation we use “der” to designate where a piece of translocated DNA and centromere came from

17
Q

Aneuploidy and Polyploidy?

A

Aneuploidy = loss or gain of a particular chromosome (e.g. trisomy 21 or monosomy X)

Polyploidy = extra copies of all chromosomes (e.g. 3n, 4n)

18
Q

What are the three viable (survive to birth) trisomies and why are they (likely) to be such?

A

13, 18 and 21. These chromosomes contain the fewest gene-encoding regions of all the chromosomes. Only the Y chromosome has fewer genes located on it.

19
Q

Discuss the mechanisms that can produce polyploidy.

A
  1. Triploidy: di-spermy or diploid egg or diploid sperm

2. Tetraploidy: DNA duplication but no cell division (endomitosis)

20
Q

List some factors leading to Aneuploidy.

A

Meiotic chromosome nondisjunction
* location of recombination too close to centromere or telomere
* reduced frequency of crossover (recombination) events
Maternal age > 35 years

21
Q

Mosaicism

A

presence of 2 or more genotypes in cells in a tissue derived from a single zygote.

22
Q

How many mitosis divisions do germ cells undergo before entering the final meiotic division?

A

about 30 - 50

23
Q

Two examples of somatic chromosomal errors that occur during development and lead to mosaicism.

A
  1. 47, XX +21 / 46, XX mosaic trisomy 21 (Down’s syndrome)

2. 46, XX / 46, XY true hermaphroditism

24
Q

Somatic chromosomal mosaicism can lead to…

A

overexpression of oncogenes or loss of tumor suppressor genes

25
Q

How do the children of mosaic parents fare?

A

children will be fully affected.

26
Q

Common cause of mosaicism

A

nondisjunction in an early post-zygotic mitotic division.

27
Q

germ line mosaicism can result from…

A

mitotic nondisjunction in germ cell precursor

28
Q

Nondisjunction event in meiosis I will lead to…

A

100% abnormal gametes

2 are N+1 and the other 2 are N-1

29
Q

Nondisjunction event in Meiosis II can lead to…

A

50% abnormal gametes

2 are N (normal), the other 2 are N-1 (abnormal)