Reproduction & Genetics

Question 1

Define haploid.

Answer 1

1 set of chromosomes, found in sperm/egg

Question 2

Define karyotype.

Answer 2

Number of chromosomes found in the nucleus.

Question 3

Define diploid.

Answer 3

2 sets of non sex chromosomes, normal human cell

Question 4

Define polyploid.

Answer 4

More than 2 sets of chromosomes

Question 4

What is the purpose of a histone protein?

Answer 4

Binds the DNA proteins together and allows the unwinding of DNA

Question 5

Define amyloid.

Answer 5

2 sets +/- chromosomes or parts of chromosomes

Question 6

Define telomere.

Answer 6

Are the tails at the end of chromosomes. They reduce each time a chromosome is copied so can only multiple a set number of times

Question 7

Define telomerase.

Answer 7

This extends telomeres, allowing for additional replication once telomeres size has decreased

Question 8

Names the bases of DNA.

Answer 8

Adenine & Guanine (Purines)

Thymine (DNA only), Uracil (RNA only) & cytosine (pyrimidines)

Question 9

Define nucleoside.

Answer 9

Base + sugar molecule

Question 10

Which bases pair up in DNA structure?

Answer 10

Adenine (A) & Thymine (T)

Cytosine (C) & Guanine (G)

Question 11

What are the base pairings for RNA?

Answer 11

Adenine (A) & Uracil (U)

Cytosine (C) & Guanine (G)

Question 13

What is the function of DNA?

Answer 13

• provides instructions for building every protein in the body
• Replicates prior to cell division ensuring exact replication in each daughter cell

Question 13

Define codon.

Answer 13

RNA sequence for amino acids to form a protein

Question 14

What is the function of RNA?

Answer 14

• Regulates gene expression

- Transcribes & translates DNA instructions for protein manufacture

Question 15

Summarise DNA transcription.

Answer 15

The process of copying DNA to mRNA

Question 16

Where are mRNA converted into proteins?

Answer 16

Ribosomes on the endoplasmic reticulum

Question 17

Summarise translation.

Answer 17

tRNA is matched with a complimentary codon

Question 18

Define protein some.

Answer 18

Where protein structures are broken down and recycled

Question 20

Summarise DNA replication.

Answer 20

Transcription
Translation
Replication

Question 21

Define mitosis.

Answer 21

a type of cell division that results in two daughter cells each having the same number and kind of chromosomes as the parent nucleus, typical of ordinary tissue growth.

Question 22

Define meiosis.

Answer 22

a type of cell division that results in four daughter cells each with half the number of chromosomes of the parent cell, as in the production of gametes

Question 23

What are the stages of mitosis?

Answer 23

Interphase
Prophase
Metaphase
Anaphase
Telophase
Cytokinesis

Question 23

Define genotype.

Answer 23

Is the genetic information from our 2 genes

Question 24

What are the stages of meiosis?

Answer 24

``` Interphase I Prophase I Metaphase I Anaphase I Telophase & cytokinesis Prophase II Metaphase II Anaphase II Telophase II ```

Question 25

Define phenotype.

Answer 25

Observed characteristic from the genetic code

Question 26

Define alleles.

Answer 26

...

Question 27

Define polymorphism.

Answer 27

Commonly occurring variant alleles in a population.

Question 28

Define homozygous.

Answer 28

...

Question 29

Define heterozygous.

Answer 29

...

Question 30

Define co-dominance.

Answer 30

Where 2 associated alleles are both expressed independently. | E.g. Blood groups

Question 31

Define overdominance.

Answer 31

When heterozygous offspring exhibit traits outside range of homozygous parents. E.g. Sickle cell disease -

Question 32

Define incomplete dominance.

Answer 32

Dominance is incomplete therefore...

Question 33

Define mutation.

Answer 33

Change in genetic make up

Question 34

Define somatic mutation.

Answer 34

Mutation occurs in non germ ells that lead to difference in genetic make -up

Question 35

Define monosomy.

Answer 35

1 Chromosome e.g. Tuners XO

Question 36

Within genetic mutations, define deletion.

Answer 36

When there is a deletion of genetic material on a chromosome that can result in loss of function

Question 37

Within genetic mutations, define amplification.

Answer 37

When there is a duplication of genetic material within a chromosome

Question 38

Within genetic mutations, define translocation.

Answer 38

When there is chromosome rearrangement leading to abnormal gene expression

Question 39

Name the types of genetic mutations that occur at a coding level?

Answer 39

Insertion - Deletion - Point mutation - substitution on a single codon e.g. Sickle cell

Question 40

Define autosomal recessive.

Answer 40

Non sex linked when child is recipient of two recessive alleles and therefore the characteristic will be expressed.

Question 41

Define autosomal dominant.

Answer 41

Non sex linked where the presence of the dominant allele will cause the characteristic to be expressed

Question 42

Give an example of an autosomal recessive disorder?

Answer 42

Cystic fibrosis Congenital muscular dystrophy Sickle cell anaemia

Question 43

Give an example of am autosomal dominant disorder.

Answer 43

Huntington's disease

Question 44

Give an example of an x-linked recessive disorder.

Answer 44

Haemophilia - A

Question 45

Give an example of a trisomy disorder.

Answer 45

Down's syndrome, trisomy on 21

Question 46

Define multifactorial disorders.

Answer 46

Individual genetic susceptibility + environmental factors = personal liability for multifactorial disorder.

Question 47

Give examples multifactorial disorders.

Answer 47

``` Diabetes Atherosclerosis Schizophrenia Cancer Asthma Peptic Ulcer Essential Hypertension ```

Question 48

Define oncogene.

Answer 48

Are accelerators involved in cell cycling and cell survival

Question 49

Define tumour suppressor genes.

Answer 49

Involved in controlling the cell cycle with repair and induce cell death - the brakes

Question 50

Define proto-oncogenes.

Answer 50

Are normal genes involved in pathways controlling cell division

Question 51

What are oncogenes involved in?

Answer 51

Growth factors - Cell cycle regulators - Receptors -

Question 52

What is p53?

Answer 52

Important tumour suppressor

Question 53

Define apoptosis.

Answer 53

Programmed cell death

Question 54

Define angiogenesis.

Answer 54

Growth of new blood vessels

Question 55

Define metasteses.

Answer 55

Spread of cancer to distant sites

Question 56

How do monoclonal antibodies work.

Answer 56

Target molecules that | Target cell receptors

Question 57

Where does mitosis occur?

Answer 57

In normal cells

Question 58

Where does meiosis occur?

Answer 58

In gonadal cells

Question 59

Which cells are haploid?

Answer 59

Ova and sperm

Question 60

How many chromosomes are found in a haploid cell?

Answer 60

23

Question 61

What are the 3 phases of spermatogeneis?

Answer 61

Spermatogonal Spermatocyte Spermatid

Question 62

What are the 4 characteristics of sperm which help it deliver its genetic material to the ovum?

Answer 62

- A tail to propel it - Complement of mitochondria to provide energy for propulsion - Head contains DNA Acrosome which contains the

Question 63

Are foetal oocytes haploid or diploid?

Answer 63

Diploid

Question 64

In oogenesis, when does Meriosis II happen?

Answer 64

On fertilisation

Question 65

When does oogenesis occur

Answer 65

Throughout fertile like, from foetus, through infancy and at puberty.