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Speech and Language Therapy Y1 > BIOMED 7 > Flashcards

BIOMED 7 Flashcards

Genetics + genomics (65 cards)

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1
Q

How do cells look different?

A

Shape/size
Function
What is inside cell

  • genetics makes this occur
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2
Q

How are the structure + function of specialised cells determined?

A

By the different proteins being expressed by the cell

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3
Q

What determines which proteins are expressed in a cell?

A

DNA: instructions for making different cell proteins, found in nucleus

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4
Q

What is DNA?

A

Full set of instructions for all 25,000 human body proteins

  • but in any cell, only DNA instructions needed for that particular cell’s proteins are switched on, other DNA is silenced
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5
Q

What does DNA stand for?

A

Deoxyribonucleic acid

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6
Q

How does DNA exist?

A

Chromosomes in the nucleus

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7
Q

How many chromosomes do somatic (body) cells have?

A

46: 22 pairs (autosomal) + sex chromosomes (diploid, 2 of each)

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8
Q

Which body cells don’t have chromosomes?

A

Red blood cells (no nucleus)

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9
Q

How do gametes determine the DNA each person has?

A

23 chromosomes (haploid)
Fertilsation results in 1 diploid cell (zygote)

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10
Q

What is the structure of DNA?

A

Double helix
Biological molecule
Type of nucleic acid

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11
Q

How does DNA form a chromosome?

A

Condenses when cells about to divide

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12
Q

What is a chromatid?

A

Doubled/replicated chromosome (92)

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13
Q

What is the DNA code?

A

3 billion bases (4: A&T, G&C), make up the 46 chromosomes
- endless ways these can be arranged

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14
Q

What is the human genome project?

A

Mapped sequence of human genome, 3 bil human bases

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15
Q

What is RNA?

A

Ribonucleic acids
Exists as single strands

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16
Q

What are the 3 main functions of RNA in the cell?

A

Helps copy DNA instructions so proteins can be made
Helps build new proteins in cytoplasm
Forms ribosomes

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17
Q

What are the building blocks of proteins?

A

All made up of amino acids (20, combined in almost infinite ways to make large number of dif proteins needed)

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18
Q

How are proteins built up?

A

Primary structure: peptide
Secondary structure: eg helix, sheets (folded up)
Tertiary structure: eg active sit, enzymes

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19
Q

What is a gene?

A

part of a DNA molecule that codes for a protein

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20
Q

How many genes are there in humans?

A

20,000-25,000 spread across chromosomes

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21
Q

Does every cell carry all DNA?

A

Every cell carries all of DNA instructions
In one cell, only instructions (genes) for that cell’s proteins switched on
Each gene codes for a different protein

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22
Q

In humans, genes that code for proteins make up what % of our DNA?

A

2% Coding
98% Non-coding (regulates gene expression)

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23
Q

What does the genome consist of?

A

All of the DNA in any cell
- coding
- non-coding
- DNA in mitochondria

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24
Q

How are proteins made in cells?

A

Protein synthesis

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25
Describe the process of protein synthesis
DNA- gene instruction in group of 3 bases (codon) RNA- transcription: copies instruction Ribosomes- translation: reads instruction and builds amino acids into correct order to make protein
26
How does the ribosome move along the mRNA to read the triplets?
Like a ball
27
What is the name for the flow of information DNA → RNA → protein?
Central dogma
28
Why is cell division needed in: - childhood and adolescence? - adulthood?
Grow Renew + repair
29
What is the rate of cell division for GI epithelial cells?
Every 2-4 days
30
What is the rate of cell division for basal skin cells?
Every 10-30 days
31
What is the rate of cell division for brain cells?
Rarely, if ever
32
What is mitosis?
Cell division 2 daughter cells produced: genetically identical to parent Diploid, 46 chromosomes (same number as parent)
33
What is asymmetric cell division?
Stem cells keep a copy of themselves when dividing, daughter cells have different properties
34
What is meiosis?
Making gametes from body cells Cell division 4 daughter cells produced (haploid, 23 chromosomes) Some crossing over of DNA, so every gamete is genetically different
35
What specific cells can make gametes?
Testes cells (diploid somatic) → sperm cells (haploid) Ovary cells (diploid somatic) → ova/egg cells (haploid)
36
What is a DNA mutation?
Alteration/change to normal DNA sequence
37
How can DNA mutations occur?
Inherited Acquired via mutagens (toxins, chemicals, radiation, UV, viruses)
38
What can DNA mutations result in?
Mistakes in protein structure/function Lethal or non-lethal
39
What is an example of an inherited DNA mutation?
Cystic fibrosis
40
Which protein is mutated in cystic fibrosis?
CFTR (cystic fibrosis transmembrane regulator) - protein that regulates water content of mucous in respiratory tract + digestive tract (excess mucous)
41
How does the cystic fibrosis mutation occur?
Gene in lower panel has lost 3 of DNA bases (CTT) due to mutation RNA copy (transcript) changed Instruction ribosomes read (translate) changed Incorrect sequence of animo acids assembled Protein shape + function affected
42
What are alleles?
Different forms/variants of the same gene
43
If alleles are different for a particular trait…
Heterozygous
44
If alleles are the same for a particular trait…
Homozygous
45
If the gene allele is dominant…
The characteristic will be expressed if the allele if present on one or both chromosomes
46
If the gene allele is recessive…
The characteristic will be expressed only if the allele is present on both chromosomes
47
What is the genotype?
Genetic makeup of individual (genes + alleles)
48
What is the phenotype?
Characteristics expressed by individual (depends on which alleles are being expressed, made into proteins)
49
How is your blood type/group determined?
By the antigen (protein-sugar molecule) on surface of red blood cells
50
What are the 4 blood groups?
Blood type A (A-antigen) Blood type B (B-antigen) Blood type AB (AB- antigens) Blood type O (no antigen protein expressed)
51
What will final bloodtype also include?
Rhesus antigen status (Rh– / Rh+)
52
On which chromosome is the ABO locus?
Chromosome 9
53
What does allele type A do?
A antigen on surface of blood cell
54
What does allele type B do?
B antigen on surface of blood cell
55
What does allele type O do?
No antigen on surface of blood cell
56
Which blood group types are dominant vs recessive?
A is dominant over O B is dominant over O A and B co-dominant O is recessive
57
How many possible blood group genotypes are there?
6
58
How many possible blood group phenotypes are there?
4 AB, A, B, O
59
What are many inherited disorders caused by?
Caused by mutations in the allele/s of just one gene (single gene disorders)
60
What is an autosomal recessive condition?
Cystic fibrosis: alleles on chromosome 7
61
What is a sex-linked inherited disorder?
Caused by a genetic mutation on the X chromosome (can also be Y, but less common + only linked to male infertility)
62
What is an example of a sex linked condition?
Haemophilia
63
Explain how haemophilia occurs
Recessive... - women have 2 X, has to occur in both to occur - men have 1 X, has to occur in one to occur Thus, usually passed mother → son
64
What is haemophilia A?
Inherited bleeding disorder, blood does not clot normally
65
What is an acquired gene mutation?
DNA mutation occurs in a body cell Causes cell to grow much faster than normal May be 2 or more genes involved

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