3.1 Genes Flashcards
3.1 What is the essential idea of genes?
Every living organism inherits a blueprint for life from its parents.
3.1.U1 What is a gene?
Heritable factor that consists of a length of DNA and influences a specific characteristic
3.1.U2 Where is a gene?
A gene occupies a specific position on a chromosome, called the locus.
3.1.U3 What are the forms of a gene called?
Alleles
3.1.U3 What are alleles?
The various specific forms of a gene
3.1.U4 How do alleles differ from echother?
One or only a few bases differs.
3.1.U5 How are new alleles formed?
Mutation
3.1.U5 What is mutation?
when a base differs in a gene and forms a new allele.
3.1.U6 What is a genome?
The whole genetic information of an organism.
3.1.U7 What is the Human Genome Project?
The enitre base sequence of human genes was sequenced.
3.1.U1 What does a gene consist of?
A length of DNA occupying a particular position on a chromosome (locus)
3.1.U1 What is a chromosome made of?
DNA and protein
3.1.U1 Chromosome Definition
Structural units made up of DNA and proteins.
3.1.U1 How many chromosomes do humans have?
46 (two pairs of 23)
3.1.A1 What is the mutation in sickle cell disease?
On the 11th Chromosome, the bases CCT GAG GAG change to CCT GTG GAG. This means that the amino acids change from glutamic acid to valine.
3.1.A1 What does sickle cell disease mean?
The cells become misshapen, and oxygen can’t attatch properly to the cells.
3.1.U5 What is base-substitution mutation?
One base is substituted for another
3.1.U5 What are the types of base-substitution mutations?
Silent mutation, missense mutation and nonesnse mutation
3.1.U5 Define silent mutation
The change in base sequence has no effect on the amino acid produced
3.1.U5 Define missense mutation
The change in base sequence has caused one different amino acid to be produced
3.1.U5 Define nonsense mutation
The change in base sequence has caused a STOP codon to be produced, so the polypeptide produced is shortened.
3.1.U5 Give an example of a missense mutation
Sickle Cell Disease
3.1.U5 Give an example of a nonsense mutation
Cystic Fibrosis
3.1.U5 What kind of mutation is sickle cell disease?
A missense base-substitution mutation
