Mutation Flashcards
(8 cards)
Mutation
Permanent change results from alteration of one or more nucleotides in an organisms DNA , virus or any material related to gene
Mutation is only cause of dissimilarities
Types of mutation
Substitutions- mutation that exchanges one base for another
Insertion- extra base pair inserted in new place of the DNA
Deletion- type of mutation in which section of DNA is lost or deleted
Gene mutation and what are genes
Piece of DNA and collection of nucleotide form DNA . Gene mutation is change in nucleotide sequence
During transcription DNA converted to RNA and then translated to form proteins .change in nucleotide sequences leads to non-functioning proteins
Types of gene mutation
Point mutation -single base pair altered at one point, single nucleotide change can alter complete sequence of DNA. Mutagens such as UV, X rays cause this
Classify point mutation
Silent mutation-single nucleotide change but new genetic codon can encode for same amino acid has no effect on protein function. Example CGT, CGC, CGG encodes for arginine
Nonsense mutation - mutation amino acid changes into stop codon thus stopping protein synthesis
Missense- mutation sequence of nucleotide change various amino acid are formed , different proteins formed can be harmful or valuable ie if CGC convert to GGC glycine will be formed place of arginine
Chromosomal mutation
Change in chromosome either in structure or sequence . Chromosomal structures carry hereditary material , present in nucleus of our cells
Chromosomal mutation change whole chromosome while gene mutation can change single gene
Types of chromosomal mutation
Deletion-lost of nucleotide from chromosome. This occurs due to deletion of base it can happen anywhere or everywhere
Duplication- sequences is repeated or single base or 3 bars are duplicated , thus leading to extra information
Genetic disorder
Sickle cell- due to point mutation. Only one nucleotide mutation in hemoglobin reason for sickle cell and due to mutation any rbc have sickle cell shape which block capillaries
Cancer- mutation in single gene p53 cause cancer . p53 for cell cycle and tumor suppression
Progeria-genetic disorder caused by mutation in LAMNA genes which is used to make proteins that have ability to support cell nucleus