SCI BIOLOGY Flashcards

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1
Q

DNA

A

DNA is a chemical that carries genetic instructions

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2
Q

Chromosome

A

Threadlike structures that contain long lengths of DNA that holds many genes.

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3
Q

Gene

A

Section of a chromosome that codes for one trait e.g. eye colour

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4
Q

Allele

A

The different forms of a gene e.g. blue eyes

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5
Q

Gamete

A

A sex cell with half the number of chromosomes

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6
Q

Fertilisation

A

The fusion of two gametes

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7
Q

Zygote

A

A fertilised egg cell

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8
Q

Embryo

A

A ball of cells formed from the zygote by cell division.

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9
Q

Foetus

A

An unborn or unhatched offspring that has developed beyond an embryo.

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10
Q

Homologous chromosome

A

Homologous Pair of Chromosomes have the same genes in the same loci

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11
Q

Meiosis

A

Meiosis is a cell division process that produces genetically unique gametes with half the number of chromosomes

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12
Q

Mitosis

A

The type of cell division that body cells are made by.

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13
Q

Sexual Reproduction

A

Reproduction that involves two individuals contributing genetically to offspring.

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14
Q

Asexual Reproduction

A

Reproduction that involves one individual contributing genetically to offspring.

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15
Q

Genetic Variation

A

The differences (in DNA) of individuals in a population/species

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16
Q

Continuous Variation

A

Continuous Variation where there is a complete range of measurements from one extreme to another e.g. height, body mass

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17
Q

Discontinuous Variation

A

Where the characteristics fall into discrete categories

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18
Q

Monohybrid inheritance

A

Monohybrid Inheritance is the inheritance of characteristics controlled by a single gene (mono = one).

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19
Q

Genotype

A

The alleles an individual has for a trait

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20
Q

Phenotype

A

The physical expression of the gene

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21
Q

Dominant allele

A

The allele that is always expressed if present

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22
Q

Recessive allele

A

The allele that is only expressed in the homozygous condition

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23
Q

Homozygous

A

Genotype with two of the same alleles

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24
Q

Heterozygous

A

Genotype with one dominant and one recessive allele

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25
Q

Punnett square

A

A diagram used to determine the probable outcomes of a genetic cross between two individuals.

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26
Q

Pure Breeding

A

An organism that is homozygous for a trait.

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27
Q

Natural Selection

A

The process whereby organisms better adapted to their environment tend to survive and produce more offspring.

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28
Q

Mutation

A

A change in the base sequence of DNA. The only source of new genetic variation

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29
Q

Point Mutation

A

A point mutation occurs when a single base or very few bases is changed which affects only a single gene.

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30
Q

Chromosomal Mutation

A

A chromosomal mutation affects the whole or a part of a chromosome which affects multiple genes.

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31
Q

Genetics

A

The study of the variation and inheritance of genes

32
Q

Selective Breeding

A

The process of choosing only plants and animals with desirable characteristics to reproduce

33
Q

Inbreeding

A

The production of offspring from the mating or breeding of individuals or organisms that are closely related genetically

34
Q

Rosalind Franklin

A

The discovery of the structure of DNA in 1953 was made possible by Dr Rosalind Franklin’s X-ray diffraction work. Her creation of the famous Photo 51 deduced the double-helix structure of deoxyribonucleic acid.

35
Q

How is the genetic code read

A

In triplets, triplets code for amino acids. Amino acids are ordered according to the base sequence to form different proteins.

36
Q

Base Pairing

A

A - T , G - C

37
Q

Parts of a Nucleotide

A

deoxyribose sugar, phosphate and base

38
Q

Process of Natural Selection

A

Over production & variation among offspring, competition, differential survival & reproduction, inheritance of favourable alleles

39
Q

Inbreeding Depression

A

Due to inbreeding offspring will carry harmful diseases which could affect their lifespan.

40
Q

Types of Point mutations

A
  • Substitution
  • Insertion
  • Deletion
41
Q

Types of Chromosomal Mutations

A

Deletion, duplication, inversion, and translocation

42
Q

Extra chromosome in the 21st pair

A

Trisomy 21

43
Q

Extra X chromosome

A

Kleinfelter - Only occurs in men

44
Q

Missing X chromosome

A

Turner’ Syndrome - Only in females

45
Q

Implications in inbreeding Bulldogs

A
  • Severe Breathing Issues
  • Skin problems
  • Joint problems
  • Dental Issues
46
Q

Implications in inbreeding King Charles Spaniels

A

Syringomyelia:
- Inability to move neck without pain or discomfort
- Yelping
- Crying
- Developing a wobble when they walk

47
Q

Haemophilia

A

An inherited bleeding disorder in which the blood does not clot properly.

48
Q

How is Haemophilia Caused

A

Caused by a point mutation. Located on the X chromosome

49
Q

What can Haemophilia lead to

A

This can lead to spontaneously bleeding as will as bleeding following injuries or surgery

50
Q

Cystic fibroses

A

A inherited disorder that causes severe damage to the lungs, digestive system and other organs in the body.

51
Q

How is Cystic fibroses Caused

A

Cystic fibrosis can be caused by a deletion point mutation of three bases in the CFTR gene which is recessive.

52
Q

What can Cystic fibroses lead to

A

The mucus, sweat and digestive juices become sticky and thick. These plug up tubes, ducts and passageways. This causes a higher rate of lung infection and lower nutrition absorption

53
Q

Sickle Cell Anaemia

A

An inherited disorder. Some red blood cells are shaped like sickles or crescent moons. These sickle cells also become rigid and sticky, which can slow or block blood flow.

54
Q

What can Sickle Cell Anaemia lead to

A

This can lead to problems such as clots, joint pain and anaemia. The lack of oxygen may cause heart and liver damage, and even death.

55
Q

How is Sickle Cell Anaemia Caused

A

Caused by a substitution point mutation.

56
Q

Recombination / Crossing over

A

Homologous chromosomes can swap small pieces of their chromatids when they are lines up.

57
Q

Independent Assortment

A

Happens when the chromosomes line up in their homologous pairs. A random alignment of homologous chromosomes

58
Q

Number of chromosomes in human cells

A

23 pairs, 46 individual

59
Q

The Genetic Code

A

The Base Sequence

59
Q

How is variation occurred in sexual reproduction

A

Shuffles the genetic information of a parent when gametes are produced through meiosis, and it also mixes the genetic information of the two parents through fertilisation. Offspring are produced with differences in their DNA.

60
Q

Why do individuals inherit 2 of each chromosome

A

They inherit one copy of a chromosomes from each parent. Therefore every person carries two copies of each gene

61
Q

Sister Chromatids

A

Duplicated chromosomes that are connected to each other at their center points (centromere). Have the same alleles.

62
Q

Somatic Cells

A

A body cell that has 2 sets of chromosomes

63
Q

How fertilisation produces genetic variation

A

Fertilisation mixes the DNA of two parents forming a zygote. It is random as to which two gametes from each parent join together. Meaning fertilisation can result in many different combinations of gametes in offspring

64
Q

Test Cross

A

when an individual showing the dominant phenotype is crossed with an individual showing the recessive phenotype to identify whether the individual is homozygous

65
Q

DNA sequencing

A

The process of determining the exact order or sequence of bases in a section of DNA or gene.

66
Q

Mutagens

A

Mutations can be caused by mutagens an example of this is radioactive substances

67
Q

Genetic Screening

A

The process of sequencing a section of DNA to identify mutations in genes that can cause or increase the risk of a disease such as cancer.

68
Q

What is Stomach cancer caused by

A

A mutation in the CDH1 gene. Carriers of the mutated gene have a 70% higher chance of developing stomach cancer

69
Q

How is Genetic screening carried out

A

A blood or saliva sample is collected and the DNA is sequenced. A Normal sequence chromatograms is compared to a sample chromatogram.

70
Q

Treatment options for carriers of the mutated CDH1 gene

A

Regular checks for cancer or may choose to surgically remove the stomach.

71
Q

Māori rates of stomach cancer compared to Europeans

A

3x higher than Europeans due to a higher incidence of the CDH1 allele

72
Q

How DNA sequencing is used in the genetic screening for cystic fibrosis

A

Individuals with a family member with Cystic Fibrosis and their partner may choose to have their DNA sequenced to see if they are carriers of the mutated CFTR gene before having children.

73
Q

Treatment options are available if someone is identified as a carrier of the mutated CFTR gene?

A

If both parents are identified as carriers of the mutated gene, they can undergo genetic counselling to decide whether or not to have biological children.

74
Q

Female cancer chances

A

Female carriers a 30-40% higher risk of developing breast cancer.