cytogenetics Flashcards

1
Q

what is cytogenetics?

A

the study of whole chromosomes (structure, number, morphology etc) in order to understand how they can lead to specific disorders

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2
Q

How is a karyotype produced?

A

to study chromosomes of a single organism, geneticists arrange micrographs of the stained chromosomes in homologous pairs of decreasing size to produce a karyotype

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3
Q

What aids karyotyping?

A

chemical stains such as quinacrine and giemsa can be used to differentially stain chromosomes to reveal species specific banding patterns

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4
Q

what are telomeres?

A

caps of the chromosomes which protect the chromosome from being condensed after cell division

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5
Q

all genes in the euchromatin can be easily transcribed, true or false?

A

true

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6
Q

What can human metaphase chromosomes be categorised by?

A

length of the arms and centromere location

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7
Q

How are metacentric chromosomes identified?

A

have short and long arms of roughly equal length with the centromere in the middle

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8
Q

How are submetscentric chromosomes identified?

A

have short and long arms of unequal length with the centromere more towards one end

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9
Q

how are acrocentric chromosomes identified?

A

have a centimetre very near one end and have small short arms - have secondary constructs on the short arms that connect very small pieces of DNA to the centromere

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10
Q

What does ploidy mean?

A

something with ploidy on the end refers to the number of chromosomes

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11
Q

how do you refer to an organism with 2 sets of chromosomes?

A

diploid cell

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12
Q

how do you refer to something with one set of chromosomes?

A

haploid cell

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13
Q

How many chromosomes does a human have?

A

23 pairs (46 in total)
22 pairs of autosomes
1 pair of sex chromosomes (XX and XY)

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14
Q

How do diploid cells reproduce?

A

By mitosis making daughter cells that are exact replicas
e.g. of cells include skin, blood, muscle cells (somatic cells)

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15
Q

What are haploid cells the result of?

A

the process of meiosis, a cell division which diploid cells divide to give rise to haploid germ cells
cells used in sexual reproduction (egg and sperm)

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16
Q

What does polyploidy mean?

A

multiple sets of chromosomes are present
common in plants but rare in animals

17
Q

What are some types of numerical abnormalities?

A

polyploidy (triploidy, tetraploidy)
aneuploidy (trisomy, mono song, tetrasomy)
mixoploidy

18
Q

what are some types of structural abnormalities?

A

deletion
inversion
duplication
insertion
ring
translocation
isochromosome

19
Q

what is reciprocal translocation?

A

segments from two different chromosomes have been exchanged

20
Q

what is robersonian translocation?

A

an entire chromosome has attached to another at the centromere

21
Q

what is non-disjunction?

A

major occurrence in meiosis
the failure of homologous chromosomes or sister chromatids to separate during meiosis
abnormal number of chromosomes may result

22
Q

what determines the sex in Drosophila?

A

by the number of X chromosomes
there is no Y chromosome - XX is female X0 is male

23
Q

What triggers testes formation in mammals?

A

SRY- encodes a protein testis-determining factor

24
Q

What is male and female sex in birds?

A

make homogematic - ZZ
female hetergamatic - ZW

25
Q

how does environment determine sex?

A

occurs in some reptiles
sea turtles lay their eggs on the beach for temperature-dependent sec determination