Chromosomes Flashcards

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1
Q

genome and include an example

A

a skin cell or a liver cell, contains this same set of instructions

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2
Q

where are the copy of genomes found

A

all cells within the body that have a nucleus

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3
Q

chromsomes

A

tiny thread like strands that carry thousands of genes

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4
Q

How many chromsomes in a somatic cell

A

46 chromosomes in a somatic cell

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5
Q

When do chromsomes form, howmanychromsomes does each gamete contain

A

chromsomes form when 2 gametes guse

each gamete contian 23 chroomsomes each

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6
Q

karyotype

A

an individual’s complete set of chromosomes which are arranged in sizes and pairs

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7
Q

each chromsome will vary based on

A

the number of nucleotides present

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8
Q

gene locus

A

location of a specific gene on a chromosme

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9
Q

Telomere vs centromere

A

telomere: repetitive base sequences to protect the ends of chromosomes

centromere: sequence of DNA that hold the two chromatids together

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10
Q

what are homoglous chromsomes

A

pairs of chromosomes that:

  1. are the same size and length
    2.have the same centromere postiion
    3.hare the same genes at the same gene loci
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11
Q

pairs of 1-22 chromsomes are known as

A

autosomes.

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12
Q

pairs of 23 chomrosomes are knwon as

A

sex chromsomes(xy for males and xx for females)

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13
Q

how can abnormalities in chromsomes be identified

A

karyogram

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14
Q

Aneuploidy

A

a genetic disorder where the total number of chromosomes doesn’t equal 46

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15
Q

types of aneuploidy

A

monosomy: one missing chromsome (2n-1)

trisomy: one extra chromsome(2n+1)

tetrasomy: two extra chromsomes(2n+2)

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16
Q

Monosomy example

A

Turner sydromome

Mutation in turner sydrome; single X(often presented as XO)

Incidence rate:1:2000

Common symt[[oms: infertilty, short stautre, fused neck and head

17
Q

example of trsionomy:

A

Downsydromome

mutation: extra copy of chromoesm 21

incidencd rate 1:1000

common symtpoms: delayed physical growth, possible heart defects, flattened face profile, mild to moderate intelluctual abilty disabilty

18
Q

example of tetrasomy

A

tetrasomy x

mutation: two extra copies of the x chromosomes(totalling 4)

incidence rate: there exists a community around 100-150 confirmed cases around the world—less feamles diaongosied

common symtpoms: mild delay in physcila devleopment, delyaed sppech developopment, slight to moderate learning diffiucleus

19
Q

why do majortiy of tetrasomy cases go unidgansoised

A

females with this disorder rarely show symtpoms, thus go undigansoied

20
Q

what is Polyploidy, who is it lethal in and who is it beneficial in

A

refers to a chromosome abnormality where an organisms has more than two sets of each chromosome

it is lethal in humans, yet its beneifical in some plants as they thrive and survie in thse conditons causing them to becoming larger and plumper eg. strawberries

21
Q

autosomes

A

chromosomes apart from the sex chromosomes in a eukaryotic cell.

22
Q

.Purines

.Purines

A

double ringed structures, always pair up with pyrimidines—–Adeninine and guanine

22
Q

Pyrimidines

Pyrimidines

A

-single eringed structures, always pair up with purines—cytosin, thymine, uracil

23
Q

what are 3 features of chromosomes/what 3 things do chromsomes contain

A

Telomeres: repetitive base sequences to protect the ends of chromosomes
DNA coiled around histone proteins
Centromere: sequence of DNA that hold the two chromatids together

24
Q

what are the possible effects of mutations on proteins

A

a variant can cause a protein to malfunction or to not be produced at all eventually leading to disorders

25
Q

the function of a protein is largely determined by its

A

shape

26
Q

how can the shape of a proteinchange

A

Dna chaning even the slgithast