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IB Biology HL > 3 Genes > Flashcards

3 Genes Flashcards

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1
Q

Define Locus

A

Location of a gene on a chromosome

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2
Q

What is a missense mutation

A

Benificial mutation - causes a new protein to form creating variation

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3
Q

What is a silent mutation

A

A neutral mutation which causes no change to the proteins formed

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4
Q

What is a nonsense mutation

A

A detrimental mutation which leads to no the protein building to stop

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5
Q

What causes sickle cell anemia

A

A change to the 6th codon of the beta chain of haemoglobin causing a different shaped haemoglobin molecule
DNA - GAG to GTG (non transcribed strand)

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6
Q

What amino acid changes in sickle cell anaemia

A

Glu to Val

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7
Q

What structure is haemoglobin with sickle cell anaemia

A

Insoluble Fibrous Strands

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8
Q

What are the possible effects of sickle cells

A

Clots in the capillaries due to sickle shape
Destroyed rapidly - anaemia due to low red blood cell count
Insoluble haemoglobin is less efficient - lethargy

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9
Q

Define aneuploidy

A

abnormal number of chromosomes in a haploid set

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10
Q

Define pseudogenes

A

Non-functional segments of DNA that resemble functional genes

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11
Q

Describe bacterial conjugation

A

A donor cell replicates it’s plasmid and passes it to a recipient cell via it’s sex pili by creating a conjugation bridge

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12
Q

Describe a nucleosome

A

8 histone proteins with DNA wrapped around

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13
Q

Describe Chromatosomes

A

A string of nucleosomes connected by an additional histone protein

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14
Q

Describe a solenoid

A

A ring of about 6 chromatosomes per turn which condenses to form 30nm fibre

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15
Q

What are homologous pairs?

A

Name given to the pair of chromosomes with the same loci and structure, one maternal and one paternal

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16
Q

When must homologous pairs be seperated?

A

Meiosis

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17
Q

Define diploid

A

Cells with homologous pairs (two sets) of chromosomes (somatic cells)

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18
Q

Define haploid

A

Cells with only one set of chromosomes (gametes)

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19
Q

Why must gametes be haploid?

A

So two can fuse to form a diploid zygote

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20
Q

Define Somatic cell

A

Diploid body cells

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21
Q

Define heterosome

A

Sex chromosome

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22
Q

Define autosome

A

Non sex chromosome (other 22 pairs)

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23
Q

Which gene has the male characteristics?

A

SRY on Y chromosome

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24
Q

What is a karyotype

A

The number and type of chromosomes in a eukaryote

25
Q

Define aneuploidies

A

When an organism has missing or additional chromosomes

26
Q

Define translocations

A

Chromosomes break and re-attach to another (chromosomal disorder)

27
Q

Define karyotyping

A

Using visual profiles called kariograms to determine chromosomal properties such as gender or identify disorders

28
Q

Define a non-disjunction event

A

This refers to the chromosomes failing to separate correctly, resulting in gametes with one extra, or one missing, chromosome

29
Q

Define Germline cells

A

Cells that divide into 4 genetically distinct gametes (egg/sperm cells)

30
Q

What is Mendel’s First Law?

A

Law of segregation
Each gamete carries only one allele for each gene (they are seperated)

31
Q

What is Mendel’s Second Law?

A

Law of Independent Assortment
The segregation of alleles for one gene is separate from any other gene

32
Q

What is Mendel’s Third Law?

A

Principle of Dominance
Recessive alleles will be masked by dominant alleles

33
Q

What zygosity is the sex chromosome in males?

A

Hemizygous

34
Q

What are the two possible genotypes for any given gene?

A

Heterozygous or homozygous

35
Q

Define phenotype

A

Physical characteristics

36
Q

Describe co-dominant alleles

A

Alleles can both impact on phenotype

37
Q

Define Mutagens

A

External factors that increase the rate of mutation (leading to genetic disease)

38
Q

Define Carcinogens

A

Mutagens that cause cancer

39
Q

Give an example of a biological agent which is a carcinogen

A

HPV virus

40
Q

What kind of gel is used to separate DNA?

A

Agarose

41
Q

What kind of gel is used to separate proteins?

A

Polyacrylamide

42
Q

What are proteins treated with before gel electrophoresis to linearize them and uniformize a negative charge?

A

Anionic detergent

43
Q

What name is given to the main genetic material in a prokaryote?

A

Genophore

44
Q

When does crossing over occur?

A

Prophase I

45
Q

What occurs in Meiosis I

A

Homologous pairs split

46
Q

What occurs in Meiosis II

A

Sister chromatids split

47
Q

Describe the process of crossing over

A

Non sister chromatids are held together at a chiasma
The homologous chromosomes condense into a bivalent
The bivalent is separated by meiosis creating recombinants

48
Q

Which factors increase genetic variability?

A

Crossing over
Random assortment
Random selection

49
Q

What are the two ways to genetically test foetuses?

A

Chronic villi sampling
Amniocentesis

50
Q

Features of chronic villi sampling?

A

More dangerous
Younger foetus

51
Q

Features of amniocentesis?

A

Less dangerous
Older foetus

52
Q

Name an autosomal recessive disorder

A

Cystic fibrosis

53
Q

Name an autosomal dominant disorder

A

Huntington’s

54
Q

What does it mean if genes are linked?

A

They are on the same chromosome

55
Q

Describe 3 categories of mutagens?

A

Radiation
Chemical
Biological agents

56
Q

Why can STRs be used for DNA profiling?

A

Short tandem repeats are usually unique to each individual
They are cut with restriction enzymes and gel electrophoresis is undergone to compare results

57
Q

Describe somatic nuclear transfers

A

The nucleus is removed from an adult skin cell and transferred into an enucleated (nucleus removed) egg
This is then implanted in the womb

58
Q

Give 4 examples of natural cloning

A

Binary fission
Budding
Fragmentation
Identical twins

IB Biology HL (35 decks)

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