3.1 Genes Flashcards

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1
Q

What is DNA also known for?

A

Being the genetic blueprint

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2
Q

What does DNA code for and determine?

A

The characteristics of an organism

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3
Q

What type of features does DNA code for?

A

Physical
Behavioural
Physiological

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4
Q

What is DNA packaged and organised into?

A

Discrete structures called chromosomes

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5
Q

What is a gene?

A

The sequence of DNA that encodes for a specific trait

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6
Q

Is a specific trait influenced always by only one gene?

A

No sometimes it is influenced by multiple genes

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7
Q

What is the locus?

A

The position of a gene on a particular locus

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8
Q

What is the plural of locus?

A

Loci

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9
Q

What are alleles?

A

Alternative forms of a gene that code for the different variations of a specific trait

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10
Q

As alleles are alternative forms of the one gene, what do they possess?

A

Very similar gene sequences

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11
Q

By how much do alleles differ from one another?

A

By one or a few bases

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12
Q

What is an example of a characteristic that the gene has alleles that encode for different colours?

A

Hair or eye colour

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13
Q

What is a gene mutation?

A

A change in the nucleotide sequence of a section of DNA coding for a specific trait

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14
Q

How are new alleles formed?

A

By mutation

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15
Q

What are the three types of gene mutations?

A

Beneficial
Detrimental
Neutral

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16
Q

What do beneficial mutations do?

A

Change the gene sequence to create new variations of a trait

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17
Q

What do detrimental mutations do?

A

Shorten the gene sequence to stop the normal function of a trait

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18
Q

What do neutral mutations do?

A

Have no effect on the functioning of a specific function

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19
Q

What are beneficial mutations also known as?

A

Missense mutations

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20
Q

What are detrimental mutations also known as?

A

Nonsense mutations

21
Q

What are neutral mutations also known as?

A

Silent mutations

22
Q

What is an example of a disorder caused by a gene mutation?

A

Sickle cell anaemia

23
Q

How did the sickle cell anaemia allele arise?

A

From a base substitution mutation

24
Q

What is a base substitution mutation?

A

Where a single base is changed in the gene sequence

25
Q

Where is the change that causes sickle cell anaemia?

A

The 6th codon for the beta chain of haemoglobin

26
Q

How does the DNA sequence change in sickle cell anaemia and on what strand?

A

The DNA sequence changes from GAG to GTG on the non transcribed strand

27
Q

How does the mRNA sequence change in sickle cell anaemia and in what position?

A

From GAG to GUG at the 6th codon position

28
Q

What does the polypeptide change from in sickle cell anaemia?

A

From glutamic acid to valine

29
Q

What does the change from Glu to Val do in sickle cell anaemia?

A

Alters the structure of haemoglobin causing it to form insoluble fibrous strands

30
Q

What causes an individual suffering from sickle cell to feel constantly tired?

A

The insoluble haemoglobin cannot carry oxygen as effectively

31
Q

What causes the shape of a red blood cell to a sickle shape in sickle cell anaemia?

A

The formation of fibrous haemoglobin strands

32
Q

What causes the low red blood cell count in sickle cell anaemia?

A

Sickle cells are destroyed more rapidly than normal cells

33
Q

What can cause myriad health issues in sickle cell anaemia?

A

Sickle cells may form clots within the capillaries which blocks blood supply to vital organs

34
Q

What is a genome?

A

The totality of genetic information of a cell, organism or organelle

35
Q

What does the genome include?

A

All genes as well as non-coding DNA sequences

36
Q

What does the human genome consist of?

A

46 chromosomes
3 billion base pairs
21,000 genes

37
Q

What was the human genome project?

A

An international venture to sequence the human genome

38
Q

What did the human genome project show?

A

That humans share the majority of their sequence

39
Q

What did the human genome project showed contributed to diversity?

A

Short nucleotide polymorphisms

40
Q

What were the four outcomes the completion of the human genome project lead to?

A

Mapping
Screening
Medicine
Ancestry

41
Q

How did the human genome project help with mapping?

A

The number, location, size and sequence of human genes is now known

42
Q

How did the human genome project help with screening?

A

It has helped the production of specific gene probes to detect sufferers and carriers of genetic diseases

43
Q

How did the human genome project help with medicine?

A

The discovery of new proteins has led to improved treatments

44
Q

How has the human genome project helped with ancestry?

A

Comparisons with other genomes has shown insight into the origins, evolution and migration patterns of man

45
Q

Why is the number of genes present in an organism not a valid indicator of biological complexity?

A

As the number of genes will differ between species

46
Q

What is the number of genes in a genome usually predicted by?

A

Identifying sequences common to genes

47
Q

What may identifying regions may include?

A

Expressed sequence tags or sequences that are homologous to known genes

48
Q

What makes accurate counts of unique gene numbers very difficult?

A

The presence of pseudogenes and transposons

49
Q

WHy may final estimations of gene numbers vary significantly?

A

As scientists may use different approaches to predict gene numbers