SBI3U - bio > genetics > Flashcards

genetics Flashcards

(49 cards)

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1
Q

What is DNA?

A

Deoxyribonucleic acid, hereditary material of life located in the nucleus.

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2
Q

What is a gene?

A

A portion of DNA molecule that carries the information to produce a particular trait of an organism.

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3
Q

What is chromatin?

A

The thin, uncondensed version of chromosomes, made of DNA and proteins

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4
Q

What is a chromosome?

A

Condensed tightly coiled DNA.

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5
Q

What is a histone?

A

Special proteins that DNA is wrapped around to prevent tangling.

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6
Q

What is a nucleosome?

A

A structural unit of a eukaryotic chromosome, consisting of a length of DNA coiled around a core of histones.

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7
Q

What is a nucleotide?

A

Made up of phosphate, sugar, and nitrogen base.Made up of phosphate, sugar, and nitrogen base. Basic building blocks of DNA and RNA

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8
Q

What is a pyrimidine?

A

A single ringed nitrogen base.

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9
Q

What is a purine?

A

A double ringed nitrogen base.

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10
Q

What is a trait?

A

A characteristic of an organism.

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11
Q

What is a centromere?

A

Holds sister chromatids together.

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12
Q

What is a telomere?

A

A protective end on a chromosome that shortens every time DNA replicates.

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13
Q

What are somatic cells?

A

Body cells, such as hair and skin.

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14
Q

What is diploid?

A

The total number of chromosomes (46 for humans) during mitosis.

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15
Q

What is haploid?

A

Half the number of chromosomes (23 for humans) during meiosis.

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16
Q

What is an autosome?

A

Any chromosome that isn’t a sex chromosome.

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17
Q

What is a zygote?

A

A cell produced from the fusion of egg and sperm.

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18
Q

What is asexual reproduction?

A

Reproduction involving one parent, resulting in identical offspring.

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19
Q

What are gametes?

A

Sex cells, specifically egg and sperm.

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20
Q

What are homologous chromosomes?

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A

Similar chromosomes, one from each parent.

21
Q

What is synapsis?

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A

The process where homologous chromosomes pair up and align their genes, allowing crossing over to happen.

22
Q

chromatid

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A

half of a chromosome

23
Q

chiasmata

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A

where pieces of adjacent pairs are exchanged

24
Q

tetrad

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A

a pair of homologous chromosomes, joined together during meiosis

25
trisomy
if the gamete ends up with 1 extra chromosome. different genetic disorders are caused by diff chromosomes being added/lost
26
nondisjuction
process where chromosomes fail to separate properly during cell division, mistake during anaphase I or II
27
mutation
any change to the DNA due to environmental factors (uv, pollutants, viruses, radiation..)
28
karyotype
map of chromosomes, taken during metaphase to determine genetic disorders
29
translocation
type of mutation when a piece of a chromosome breaks off and attaches to another non-homologous chromosome
30
deletion
type of mutation piece of chromosome is lost, large deletions are serious
31
duplication
type of mutation part if the chromosome is repeated, causes seizures
32
insertion
type of mutation extra base pairs are inserted into a new place in the DNA
33
inversion
type of mutation piece of chromosome breaks off, inverts, and reattaches. causes infertility
34
what are the 4 nitrogen bases? which pairs to which
guanine (purine) and cytosine (pyrimidine) - 3 hydrogen bonds adenine (purine) and thymine (pyrimidine) - 2 hydrogen bonds
35
crossing over
process of genetic recombination exchange of genetic material between homologous chromosomes in prophase I
36
independent assortment
process of genetic recombination homologous chromosomes line up randomly during metaphase I making different combos
37
patau syndrome
trisomy 13, 3 copies of chromosome 13 severe intellectual disabilities, heart and brain or spinal cord defects, extra fingers and toes, cleft lip. usually die in 1st yr
38
edwards syndrome
trisomy 18 3 copies chromosome 18 severe intellectual disability, abnormally shaped head, small jaw, clenched fist, heart defects usually die in 1st yr
39
down syndrome
trisomy 21 2 copies chromosome 21 Mild intellectual disability, characteristic facial features, poor muscle tone. Chances increase with age of mother. Life span of about 60 years.
40
klinefelter's syndrome
Two X chromosomes, one Y. Boys that remain sexually immature and don't produce enough hormones (testosterone) Infertility, reduced facial and body hair. Have a normal life expectancy.
41
Translocation Down's.
When a piece of chromosome 21 breaks off and attaches to chromosome 14, a type of translocation mutation.
42
Prader-Willi syndrome.
Part of chromosome 15 is deleted. Developmental and learning disabilities, decreased muscle tone, short stature. A type of deletion mutation.
43
Cri-du-chat
Deletion in chromosome 5. Low birth weight, high-pitched cries, widely spaced eyes.
44
What can insertion cause?
Fragile X syndrome, Huntington's disease, cystic fibrosis
45
Carrier testing
Test the parental genes before conception for the presence of carrier genes. (unexpressed, recessive)
46
Pre-symptomatic (predictive) testing.
Searches for specific genetic disease that runs in families. Usually done for disorders that appear later in life.
47
Diagnostic genetic testing
Confirms a diagnosis, especially when genetic unrelated conditions are observed. Can be done at any point in a person's life.
48
Prenatal testing
Detects chromosomal problems in a fetus. Commonly test for Down syndrome in spina bifida.
49
Amniocentsis
Used to genetically screen a fetus between weeks 14 to 20
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