DNA & Inheritance Flashcards Preview

Human Biology > DNA & Inheritance > Flashcards

Flashcards in DNA & Inheritance Deck (23)
Loading flashcards...
1

Genome

- The complete set of chromosomes (46) and all the information within them.

2

Gene

- A unit of DNA that encodes for particular proteins.

3

Histone

- Type of protein that binds to DNA, giving chromosomes their shape and controls the activity of genes.

4

Chromatin

- Formation of DNA when cell is not dividing

5

Mitochondrial DNA (mtDNA)

- Small circular chromosomes found within the mitochondria.
- Are maternally inherited.
- 37 genes in total, 24 encode for making of tRNA molecules with the other 13 containing instructions for some of the enzymes needed for cellular respiration.

6

Differences between DNA and RNA

- RNA is single stranded and DNA is double-stranded.
- RNA can fold upon itself whilst DNA cannot.
- RNA has Uracil instead of Thymine, which DNA has.
- RNA can fit through nuclear pores whilst DNA cannot.

7

Messenger RNA

- Made in the nucleus, takes genetic code into the cytoplasm to be read by a ribosome.

8

Transfer RNA

- Able to carry a specific amino acid and therefore plays a vital role in protein synthesis.

9

Ribosomal RNA

- rRNA ensures correct alignment of tRNA, mRNA and ribosome. Has an enzymatic role in formation of peptide bonds between amino acids.

10

Protein Synthesis: Transcription

- Process in which genetic instructions are copied from DNA to an mRNA molecule. The transcription is triggered by chemical messengers that enter the nucleus from the cytosol and bind to the DNA at the relevant gene. Thus causing an enzyme called RNA Polymerase to begin the process of making mRNA.
- Helicase unwinds the double-stranded DNA molecule. This can occur at roughly 17 base pairs at a time. RNA Polymerase then copies the bases on one strand of DNA to make a complementary mRNA strand.
- At the end of a gene, a sequence of bases tell the RNA Polymerase to stop copying and as a result the mRNA molecule is released. Often other RNA Polymerases will follow behind the first, so that many copies are made.
- As bases will always form complementary pairs, the order of bases on coding strand will be same as in the mRNA molecule, except for thymine - uracil swap.

11

Protein Synthesis: Translation

- The production of a protein using the information coded in the mRNA molecule. In the cytosol, a ribosome attaches to one end of the mRNA molecule at a particular sequence of bases called the start codon. This ensures that the ribosome attaches to the correct end of the mRNA.
- The ribosome then moves along the mRNA three bases at a time. Each group of three is called a codon and makes an amino acid. The start codon AUG, encodes for the amino acid methionine, meaning that every protein begins with methionine. However it may be removed later.
- As the ribosome reads the codons on mRNA, the tRNA molecules with complementary bases join to the mRNA. The sequence of three bases matching the codon is called an anticodon. The amino acids carried by the tRNA are joined so that the protein is assembled with the amino acids in the correct sequence. For each bond formed between the amino acids, the energy from the breakdown of one ATP molecule is required. Once tRNA has delivered its amino acid, it detaches from the ribosome and can then pick up another amino acid from the cytosol.

12

DNA Replication

- First stage in DNA Replication is when the two strands of the DNA molecule are separated by an enzyme known as helicase.
- Each strand of the separated contains half the original information. As base pairs can only pair with one other, this then means that the new strand is identical to the other original.
- Two enzymes that aid in the synthesising of the two new strands. These enzymes are DNA polymerase, which adds new nucleotides to the new strand, and DNA ligase, which joins sections of DNA together.
- RNA Primase aids DNA Polymerase by laying down a primer from which the DNA Polymerase can then start adding free nitrogenous bases from. There are two strands in the DNA when DNA Replication is occurring, the lagging and leading strand. Firstly, DNA Polymerase moves in the 3' to 5' direction. So the leading strand is able to move in this direction with no problems but on the lagging strand RNA Primase needs to circulate to aid the DNA Polymerase which can only move in one direction. These then leaves behind fragments of strands. These fragments are called Okazaki fragments. After DNA Replication is done, the enzyme ligase comes and bonds the base pairs together. This then result with 2 semi-conservative strands.

13

Allele

- An alternative form of a gene.

14

Dominant Allele

- An allele that masks the affect of another allele.

15

Recessive Allele

- An allele that is masked by the alternative, dominant allele.

16

Phenotype

- The physical appearance of an individual as determined by the expression for a characteristic.

17

Dominant Disorders

- Achondroplasia, Huntington's, Neurofibromatosis, FMD

18

Recessive Disorders

- PKU, Cystic Fibrosis, Sickle Cell, Tay-Sachs

19

Sex-linked Disorders

+ Red-green colour blindness, Haemophilia, DMD.

20

Polymerase Chain Reaction

- Copying DNA to make more copies in order to use them for a specific purpose.
- Need DNA Polymerase, DNA Primers, DNA template, nucleotide, and temperature change.
- Denature: Heat contents to 96 degrees to separate two strands of DNA.
- Annealing: Cool the contents to allow the primers to attach to the DNA templates.
- Extension: Heat the contents to 72 degrees to allow the DNA Polymerase to synthesise new strands of DNA using the nucleotides. And Repeat cycle.

21

Short Tandem Repeats

- Sections of DNA that have significant variability meaning that it is very unlikely two individuals will have the same STR's.
- Are inherited, meaning there are similarities between relations.

22

Gel Electrophoresis

- Technique used to separate DNA, RNA, and proteins based on their size and electrical charge.

23

Gel Electrophoresis Uses

- Separating DNA to create DNA profiles.
- Separating proteins by size and charge.
- Separating RNA fragments.
- Can identify gene mutations such as cystic fibrosis and Huntington's.
- Can be used for determining relationships between members of the same species.
- Used for DNA sequencing.