Mutation Flashcards
is a DNA molecule that is tightly coiled around proteins called histones
chromosome
support its structure, to form thread-like structures.
histones
Five types of chromosomal mutations
Deletion
Inversion
Translocation
Nondisjunction
Duplication
Due to breakage
A piece of a chromosome is lost
Deletion
Chromosome segment breaks off
Segment flips around backwards
Segment reattaches
Inversion
Involves two chromosomes that are
NOT homologous
Part of one chromosome is transferred to another chromosome
Translocation
Failure of chromosomes to separate during
meiosis
Causes gamete to have too many or too few
chromosomes
Nondisjunction
Disorders may get in nondisjunction mutation
Down syndrome
Turner syndrome
Klinefelter’s
Syndrome
also known as trisomy 21, is a genetic
disorder caused by the presence
of all or part of a third copy of
chromosome 21.
Down syndrome (DS or DNS),
single X chromosome A condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing.
Turner Syndrome
A genetic disorder that affects
males. ___
occurs when a boy is born with
one or more extra X
chromosomes.
Klinefelter’s Syndrome
Occurs when a gene sequence is
repeated
Duplication
Change of a single nucleotide
Includes the deletion, insertion, or
substitution of ONE nucleotide in a gene
Sickle Cell disease is the result of one
nucleotide substitution
Occurs in the hemoglobin gene
Point Mutations
- A __ is a mutation that
exchanges one base for another
Substitutions
- The addition of one or more
nucleotide base pairs into a DNA sequence
Insertions