Genes & Genome Flashcards

1
Q

Define Genome

A

All the DNA of an organism

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2
Q

Since when do humans have their genome?

A

Since fertilisation

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3
Q

What are the three main types of DNA?

A

Nuclear DNA, mitochondrial DNA, and Chloroplast DNA

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4
Q

What are possible traits of nucleotide sequences?

A

They are genes
Regulatory (on/off)
Non-coding (Introns)
Tandem Repeats (repetitive)

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5
Q

What is a Gene?

A

A heritable factor that consists of DNA and influences specific characteristics
OR
A sequence of DNA nucleotides that codes for a RNA or protein product

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6
Q

Define Locus

A

A specific location on a chromosome where a gene is located
OR
A specific location on a gene

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7
Q

Define allele

A

A different variation of the same gene

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8
Q

Give an example of an alelle

A

A gene encodes for the eye Color brown, dependent on the parents, the alternative code may be for blue eyes

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9
Q

How are new alleles formed?

A

Through mutations

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10
Q

What is a chromosome

A

Supercooled DNA and associated structural proteins

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11
Q

What is chromatin

A

A string of DNA wrapped around histone proteins

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12
Q

What is Gene expression

A

The process by which a gene creates a product

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13
Q

When is the X shape of a chromosome seen?

A

Only seen in prophase and metaphase when a cell has replicated its DNA and is dividing.

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14
Q

What does a chromosome look like when its not dividing?

A

Like one leg of a chromosome pair

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15
Q

Letters for homozygous dominant

A

AA

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16
Q

Letters for heterozygous

A

Aa

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17
Q

Letters for homozygous recessive

A

Aa

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18
Q

How are alleles of the same gene the same?

A

They are the same gene and both code for the same type of protein(eg hair Color). They occupy the same locus on homologous (similar) chromosomes and the majority of the sequence remains the same between alleles.

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19
Q

How do alleles differ from one another?

A

They base sequence is slightly different

20
Q

Which gene and corresponding protein is cystic fibroses controlled by?

A

The CFTR gene and Chloride ion channel protein

20
Q

What mutation is sickle cell disease caused by?

A

Mutation in the hemoglobin-beta gene

21
Q

What does a RBC experiencing sickle cell disease look like?

A

Like a half moon

22
Q

Why did the hemoglobin-beta gene mutate?

A

First it was an adaption to malaria (so that the virus cannot sit on the RBC).

23
Q

What is the issue with sickle cell anemia?

A

Oxygen cannot sit well on the half moon RBC, the life span of RBC is shorter so they die quicker and clotting occurs at a much higher rate.

24
Q

How many copies of chromosomes do eukaryotes have?

A

At least two. Meaning individuals have two alleles that may be the same or different

25
Q

What are mutations?

A

Changes to the base pair sequence of the organisms genetic code

26
Q

What is a germline cell?

A

One that gives rise to gametes(eg. egg or sperm cells)

27
Q

What happens when a mutation occurs in a germline cell?

A

The mutation can be passed on to offspring

28
Q

What is a body cell called?

A

Somatic

29
Q

What happens when a mutation occurs in a somatic cell?

A

Mutations are passed on to daughter cells during mitosis but are not passed on to offspring. An example includes cancer.

30
Q

Describe a spontaneous mutation.

A

A mutation that arises naturally and not as a result of exposure to mutagens.

They occur due to errors in DNA replication

31
Q

List a few examples of mutagens

A

UV light
Radiation(hiroshima)
Cigarettes
Radioactive substances
X-Rays

32
Q

What is the cause of physical mutation

A

Exposure to radiation that damages the DNA

33
Q

What is the cause of chemical mutation

A

exposure to chemicals (eg. heavy metal ions) that damage the DNA

34
Q

What is biological mutation?

A

Viruses that insert themselves into host DNA

35
Q

When did Hiroshima happen?

A

1945

36
Q

What was hiroshima

A

the US detonated two atomic bombs over Japan. Between 100,000-200,000 thousand people died. Many thousands died prematurely over the years due to radiation-induced cancer/ mutations in DNA. Second-generation bomb victims experience mutations.

37
Q

When did Chernobyl happen?

A

1986

38
Q

What is silent mutation?

A

There is no change to the polypeptide sequence

38
Q

What was Chernobyl?

A

Due to a flawed reactor design of not properly trained personnel. The plant released many radioactive isotopes into the atmosphere, polluting over 200,000 km^2. Instant effects were dizziness, fatigue, and vomiting. Long-term physiological consequences affected antioxidants, hormones and immunity. Long-term physical effects were leukaemia and cardiovascular diseases.

39
Q

What is missense mutation?

A

A single amino acid is changed

40
Q

What is nonsense mutation?

A

A stop codon is created, polypeptide sequence is stunted

41
Q

Explain why a horse(64 chr. pairs) and a donkey(62. chr. pairs) have offspring with 63 pairs? And what does this mean?

A

Because the left over chromosomes pair up. This number is uneven so the offspring is infertile.

42
Q

How is DNA structured/ organized?

A

With nucleoide arrangement, phosphate, pentose sugar, base. The shape is a helix

43
Q

What is the uncoiled structure of a chromosome?

A

A single double-stranded helix.

44
Q

When are chromosomes homologous pairs?

A

When maternal and paterna; chromosomes align during fertilization

45
Q
A