Biology Genetics Exam Revision

?
  • Created by: Azz
  • Created on: 02-05-22 17:23
What is a Genome?
All the DNA that makes up a cell
1 of 27
How Do we Sequence Genomes
Whole-Genome Shotgun Approach
2 of 27
What components make up the human genome
22 Autosome Pairs and 1 sex chromosome pair
3 of 27
What types of transposons are there?
Retro Transposons And DNA Transposons
4 of 27
What is a mutation?
A change in DNA that affects genetic information
5 of 27
What is a somatic mutation
The mutation cannot be passed to children
6 of 27
What is a germ-line(gamete-producing cell) mutation?
The mutation can be passed to children
7 of 27
What are the different types of gene mutation?
Point Mutations(Silent, Missense, and Nonsense) and Insertion/Deletion Mutations
8 of 27
What is the correct definition for the point mutations?
Silent Mutations have no effect because the same protein is formed. Missense Mutations change the final protein. Nonsense Mutations stops the DNA from being able to code a protein.
9 of 27
What is an alle?
Different forms of a gene that are inherited from your parents
10 of 27
What is autosomal dominant inheritance?
Where only one parent has to possess the gene for their child to inherit a disorder (50% chance)
11 of 27
What is autosomal recessive inheritance?
Where both parents have to possess the gene for their child to inherit it (25% Chance)
12 of 27
What causes Cystic Fibrosis?
A deletion mutation causes a gene to code a non-functional protein channel that doesn't allow salt to travel across the cell membrane - resulting in thick and sticky mucus which coats cells and builds up in lungs destroying their function.
13 of 27
What are the correct definitions of chromosomal mutations?
Inversion- Part of a Chromosome is Inverted. Deletion is where part of a chromosome is deleted. Translocation is where different parts of different chromosomes are swapped. Duplication is where part of one chromosome is copied twice and added to another o
14 of 27
What are the correct examples of chromosomal mutations?
Inversion - Four Ring Syndrome(Clubfeet). Deletion - Cri du chat syndrome. Translocation - Cancer of the Lymph nodes. Duplication- Charcot-Marie-Tooth disease(Claw feet)
15 of 27
What is non-disjunction?
When chromosomes fail to separate during meiosis
16 of 27
What disorders are caused by non-disjunction?
Down Syndrome, Kleinfetters Syndrome and Turner Syndrome
17 of 27
What is the correct order of organisms from lowest number of genes to highest
Bacteria, Archea, Eukaryotes(Yeast, Fruitfly, rice, giant panda, humans, Japanese Canopy Plant)
18 of 27
How many genes control Huntington disease?
One
19 of 27
How do we diagnose disorders like Klinefelters Syndrome?
Karyotyping
20 of 27
The karyotype designation 47, **+13 designates what?
A female has an extra copy of chromosome 13
21 of 27
Why do SNP's(mutations) mostly cause no problems?
Because there are multiple codes for each protein
22 of 27
How many genes in the human body?
21000
23 of 27
What is the correct designation for sperm and eggs
Eggs carry 1 X chromosome. 50% of sperm carry 1 X and 50% carry 1 Y.
24 of 27
What is the correct definition of Homozygous and Heterozygous
Heterozygous inherit different forms of a gene from each parent. Homozygous inherit the same form of a gene from each parent.
25 of 27
What do Retro Transposons do?
Retro Transposons transcribe RNA back into DNA
26 of 27
What component of the genome is used for DNA profiling?
Short Tandem Repeats
27 of 27

Other cards in this set

Card 2

Front

How Do we Sequence Genomes

Back

Whole-Genome Shotgun Approach

Card 3

Front

What components make up the human genome

Back

Preview of the front of card 3

Card 4

Front

What types of transposons are there?

Back

Preview of the front of card 4

Card 5

Front

What is a mutation?

Back

Preview of the front of card 5
View more cards

Comments

No comments have yet been made

Similar Biology resources:

See all Biology resources »See all Genetics resources »