Lesson 2 - Mutations Flashcards
meaning translocation
a mutation in which part of one chromosome breaks off and rejoins to another completely different chromosome. It may be balanced, if 2 parts of the chromosome effectively swap, or it may be unbalanced if a piece simply breaks off one chromosome and joins another
meaning sex chromosomes
chromosomes that carry the information that determines the sex of the individual
which chromosomes do human females have
XX
which chromosomes do human males have
XY
meaning non-disjunction
the process that occurs when members of a pair of chromosomes fail to separate during reduction division of meiosis, resulting in one gamete with 2 copies of a chromosome and one gamete with no copies of that chromosome
meaning monosomy
when only one member of a pair of chromosomes is present in a cell
meaning polysomy
when a cell contains 3 or more rather than 2 chromosomes of a particular type
meaning aneuploidy
when a cell contains too few or too many chromosomes
meaning mutation rate
the rate at which mutations naturally occur
meaning mutagens
chemicals known to increase the rate of mutation
how are people with down’s syndrome formed
when there is non-disjunction of chromosome 21 sperm/ ovum. After fertilisation, the zygote have polysome, with 3 copies of chromosome 21
what are the symptoms of down’s syndrome
heart abnormalities, learning difficulties, lack fo muscle tone, visual problems