Mutations And Stuff Flashcards
The failure of homologous chromosomes to separate during meiosis
Non disjunction
What two conditions result from non disjunction?
Monosomy and Trisomy
What is monosomy?
A cell is missing a chromosome
What is Trisomy?
A cell has an extra chromosome
What is an aneuploid?
Any chromosome number that has the wrong number of genes
What does euploidy mean?
A balanced set of chromosomes
What is a polyploid?
An organism with 2+ copies chromosomes
What is a Triploid
An organism with 3 copies
What is a Diploid cell?
Normal body cells- 2 copies of each chromosome
What is a haploid cell?
Gametes/Sex cells- one copy of each chromosome
What is a Karyotype?
A photograph of the chromosomes of a cell, arranged from largest to smallest
What are the only chromosomes not labeled with a number called?
Sex chromosomes
A person with Trisomy 22 would have three copies of what?
Chromosome 22
What is deletion?
A portion of a chromosome is missing
What is duplication?
A segment of DNA occurs more than once
What is inversion?
A segment of DNA in a chromosome flips upside down, but remains in place.
What is translocation?
Genes from one chromosome are transferred to another, non-homologous chromosome
What does a square mean in pedigrees?
Male
What does a circle mean in pedigrees?
Female
What does partial colour mean in pedigrees?
Carriers/heterozygotes
Blank/no colour in pedigrees mean?
Unaffected/ without trait
What does autosomal mean?
Not sex linked
What is X-linked?
-generally only males have it
-can be hidden in generations
Y-linked
-only pass from father son
-only males affected
