Inheritance - Mutation Flashcards
What is mutations + causes
Random changes to bases in DNA structure - resulting in different protein created
-cancer, cell not working properly, adaptation
Mutagenic chemical (carcinogen), ionising radiation
If mutation is in gamete, not affect individual but the offspring
Body safe guard against mutation
DNA polymerase- fit complementary base + proof read bases
Proto-oncogene - make sure cell only divide during mitosis or meiosis (fully matured)
-oncogene if mutated - cell divide when not suppose to = cancer
Tumour suppressant gene - suppresses cell division - if mutated cell can divide when not mature
Gene mutations
Frame shift - errors in 1 base sequence that affects entire gene then code for wrong amino acid - lead to point mutation
Gene deletion - whole gene missing from chromosome
Substitution - a base replace with another
Inversion - 2 base swapped around
Addition - addition of another base
Deletion - a base deleted
Outcome of gene mutation
Intron mutation - non-coding gene so nothing happens
Silent mutation - codon still code for same amino acid
Missense mutation- different amino acid created may cause protein to dysfunction
Nonsense mutation - stop codon removed or happened = peptide chain too long or short
Gene mutations- sickle cell anaemia
Change in amino acid sequence chase haemoglobin change from biconcave to crescent shape
Chromosomes mutation
-Duplication of gene in chromosome
-Position of gene inverted in chromosome - affects chiasma
-Translocation - different length of 2 chromosome exchange - 1 too long other too short
Aneuploidy - loss or gain of chromosome in homologous pair (3 chromosome in 21st pair cause Down’s syndrome - cause by nondisjunction gamete - 2 chromosome in gamete)
Polyploidy - total chromosomes number is ofd number (if 61 chromosome 1 cannot be homologous pair = no gamete formation)
Error in chiasma - chromosomes not in homologous pair exchange not like wise gene
Cancer mutation
Cell not fully matured
-grow uncontrollably, wrong shape, chromosome number abnormal, large nucleus
Somatic cell + gamate mutation
Somatic cell - cancer
-can’t pass cancer to offspring, but gene increasing risk can
Gamete mutations
-can pass down
-single gene mutation (sickle cell anaemia)
-chromosomal mutation (Down’s syndrome)