Genetics 3: Sex chromosomes Flashcards

1
Q

How was sex linked traits shown on Drosophila-

A

The offspring of a cross between two flies heterozygous for Red eyes (D) x clear eye (r). Produced offspring in expected ratio of 3: red 1: clear, however all of the clear are males.

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2
Q

Explain the inheritance pattern in drosophila for sex linked traits

A

The male that were heterozygous and being crossed with a heterozygous female to produce this inheritance pattern did not have the gene for this trait on their Y chromosome, therefore they only have the dominant version in their X chromosome. Therefore any gametes where male donates the X, will have dominant phenotype. Therefore a fully recessive type would be one where the males Y chromosome has been donated and therefore be male

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3
Q

What is sex linked traits

A

Traits that are coded for by genes found on the sex chromosome.

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4
Q

Compare and contrast Heterogametic sex vs Homogametic sex

A

Heterogametic sex: the sex that produces two kinds of gametes and determines the sex of the offspring (males) whereas Homogametic sex: the sex that produces one kind of gamete. (females)

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5
Q

Compare the phenotypes of different sex chromosome combinations of humans and drosophila

A

With Humans, any genotype that has a Y will be a male. However with drosophila, it is the ratio of Xs to the autosomes that determine the sex.

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6
Q

Describe the main genetic features of the sex chromosome that make them similar and different

A

Both chromosomes 1 pseudoautosomal region at the top and bottom of chromsome which allow them to pair at meiosis
However the Y chromosome has a SRY just under the pseudoatosomal region. which isn’t on the X chromosome.

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7
Q

How is the SRY region important for sex determination in humans

A

SRY is a transcriptional factors produces a protein that binds to DNA and activates the genes leading to development of testes

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8
Q

Can SRY region be on the X and why

A

Yes, because of crossing over of the close pseudoautosomal region

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9
Q

How can individual with XY genome be phenotypically female (apart from gonads)

A

AIS: mutations in androgen receptor gene result in partial (go back to males in puberty) or complete inability of cells to respond to androgens

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10
Q

Explain why dosage compensation and X chromosome inactivation can lead to mosaic individuals.

A

Individuals with more than 1 X chromosome will inactivate the others, leading to only one active, however this is random in all cells throughout the body producing a potentially ‘mosaic individual as the alleles on the X chromsomes could be different.

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11
Q

What is an inactivated chromosome and what is it called and when is it present

A

Inactivated chromosome is condensed into a densely staining object in nuclei called Barr Body.
Found stable in mitosis but the X is reactivated in cells that give rise to ova.

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12
Q

How are organelle (mitochondria) genes inherited

A

Mitochondria/ (Chloroplasts) have small circular DNA. Inherited through maternal line as Ovum’s organelles are preserved and only sperm nucleus enters. Therefore not mendelian inheritance

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13
Q

What disorders are associated with mitochondrial DNA

A

Most disorders affect nervous and muscle system because they are affected by low energy stores. Eg. Myopathy causes muscle deterioration

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14
Q

What are two situations where meiotic non-disjunction happens and what n of chromosomes does resulting 4 daughter cells have

A

It can happen in Meiosis 1 where replicated chromosomes line up to metaphase plate.
- In non-disjunction, both of the homologous pairs go to one pole instead of both so two resulting gametes have the 2 chromatids in it. As these each split into 2 more, 2= n-1, 2 = n+1

Other situation is where in Meiosis 2: instead of sister chromatids (2-> 4) segregating, both of the sister chromatids go into 1 of the 4 resulting, so 1 has n+ 1, 1 has n-1 and 2 have n

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15
Q

Compare Trisomic, Monosomic and Nullisomic

A

Trisomic – 1 extra chromosome (3 copies).
Monosomic – 1 less chromosome (1 copy).
Nullisomic – lack both chromosomes (0 copies).

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16
Q

Compare Aneuploidy and Polyploidy

A

Aneuploidy – abnormal number of certain chromosomes.
whereas
Polyploidy – more than two complete chromosome sets e.g. triploid 3n and tetraploid 4n

17
Q

What is Turners syndrome, karyotype + phenotype

A

XO : Phenotypic but

sterile females as sex organs don’t mature. They can get estrogen to get 2ndary sex characteristics

18
Q

What is Klinefelters syndrome, karyotype + phenotype:

A

XXY: They have males sex organs, sterile and have abnormally small testes. The extra X is inactivated however some breast enlargement and other female characteristics.

19
Q

What is trisomy X karyotype + phenotype: vs trisomy 21

A

XXX: May be taller, but mostly usual female physical characteristics (nondisjunction of sex chromosome)
Trisomy 21: Downs Syndrome (nondisjunction of somatosome)

20
Q

Why does Aneuploidy happen and compare the difference between autosome disjunction and sex chromosome disjunction

A

Non-disjunction of chromosomes during Meiosis leads to imbalances in the number of chromosomes present in the resulting gamete.
In sex chromosomes this can be less worse than autosomes because Y carries very few genes and because extra copies of X become inactivated Barr Bodies.

21
Q

Compare the alterations to chromosome structure : Deletion, Inversion and Duplication with what it is and severity

A
  1. Deletion: removes chromosomal segment.
    Effect: depends on how early, how much and how many genes affected
  2. Inversion: Reverses a segment in a chromosome by making two breaks and then turning it back to front.
    Effect: Doesn’t have major phenotypic effects, but does have consequences in making gametes.
  3. Duplication: repeats a segment of DNA.
    Effect: Happens frequently. Many of our genes are duplicated.
22
Q

What is Translocation: Reciprocal vs non reciprocal and what is a disease related to it

A

Translocation: Moving a segment of one chromosome to another non homologous one.
Reciprocal is an exchange of fragments. Whereas Nonreciprocal is where one receives but one doesn’t.

Disease: CML, reciprocal translocation from C22 to C9

23
Q

What genes on the X chromosome cause Barr Bodies

A

XIST gene in the XIC region of X chromosome to be inactivated is expressed to produce multiple RNA transcripts that bind to that chromosome and effectively cover it up, thereby generating a Barr Body

24
Q

What is the evidence for existence of 4 pairs of chromosomes in Drosophila

A

Drosophila genes cluster into 4 distinct groups of linked genes