mutations Flashcards
what are somatic cells?
normal body cells.
what are germline cells?
sex cells.
what is a point mutation?
a mutation that occurs at a single gene locus or a single base substitution- deletion or insertion
what is a chromosomal mutation?
a segment mutation which occurs over multiple genes.
what is deletion?
when a portion of a base sequence vanishes or is destroyed.
what is duplication?
a part of the base sequence is multiplied and more than one copy of it exists post duplication.
what is inversion?
a portion of chromosome is reversed/flipped. The base pairs that make it up are disordered as a result. Pericentric- includes the centromere in the inversion, paracentric do not.
what is translocation
sections of the chromosome are simply places elsewhere in the chromosome.
what is a spontaneous mutation?
one that occurs during the replication of DNA.
what is an induced mutation?
one caused by a mutagen.
what is proofreading?
when polymerase disconnects incorrect bases and reattaches correct ones.
what is a mismatch repair?
what a section of incorrect DNA is replaced.
what is an excision repair?
a constant process of snipping dead or incorrect DNA.
what is preimplantation genetic diagnosis?
when an embryo is tested before it goes into the surrogate mother.
what is amniotic fluid testing?
when the fluid around an embryo I stetted for genetic diseases.