Gene and Chromosome Mutations

What are Gene Mutations?

affect a single gene by changing its base sequence, resulting in an incorrect, or non functional, protein being made

Gene Mutations can broken down into 2 subcategories

• A Substitution

• Framshifts

What are the 3 types of Substation mutations (point mutations)?

• Missense

• Nonsense

• Silent

Missense

protein changed

Nonsense

protein changed to stop codon

Silent

nitrogen base changed but the codon/ amino acid did not change

Created same protein

Framshifts

• Insertion

• deletions

What are Framshift mutations impact?

Frameshifts have a larger impact/ change on the newly synthesized strand

insertion

insertion of a single nucleotide

Deletion

deletion of a single nucleotide

The 4 types of changes in chromosome structure are?

• deletion

• duplication

• Inversion

• Translocation

Alterations of chromosomes number or structure cause?

Some Genetic disorders

Large-scale chromosomal alterations often lead to?

miscarriages

or cause a variety of developmental disorders, or even cancers

Change in Chromosome Structure - deletion

removes a chromosomal segment

Change in Chromosome Structure - Duplication

repeats a segment

Change in Chromosome Structure - Inversion

reverses a segment with in a chromsome

Change in Chromosome Structure - Translocation

moves a segment from one chromosome to another