RATED A+
gene c varia on
differences between members of the same species or those of different species
allelic varia on
gene c varia on in a popula on that involves the occurrence of two or more different alleles
for a par cular gene, muta ons in par cular genes
karyotype
A display of the chromosome pairs of a cell arranged by size and shape.
dele on
A deficiency in a chromosome resul ng from the loss of a fragment through breakage. A
muta onal loss of one or more nucleo de pairs from a gene.
duplica on
caused by abnormal events during recombina on, change to a chromosome in which part of
the chromosome is repeated
inversion
a chromosome rearrangement in which a segment of a chromosome is reversed end to end,
and a single chromosome undergoes breakage and rearrangement within itself (paracentric and
pericentric)
simple transloca on
when one piece of a chromosome becomes a!ached to a different chromosome, the transfer of
gene c material occurs in only one direc on
reciprocal transloca on
reciprocal exchange of segments between two non-homologous chromosomes
terminal dele on
dele on at end of chromosome
, inters al dele on
dele on in middle of chromosome
gene family
a set of several similar genes formed by duplica on of a single original gene, usually have similar
biochemical func ons
homologous genes
two or more genes derived from the same ancestral gene
paralogs
homologous genes within a single species that cons tute a gene family
copy number varia on
the phenomenon of duplica on or dele on of segments of DNA within a genome, so that
different individuals have different numbers of copies of a par cular DNA segment
compara ve genomic hybridiza on
used to detect small CNVs (microdele on/microduplica on)
label DNA with dye and label test with green; hybridize; test>reference >1= duplica on;
<1=dele on
posi on effect
a change in phenotype that occurs when the posi on of a gene changes from one chromosomal
site to a different loca on
balanced transloca on
When the chromosome material is present in the correct amount even though its posi on is
different
euploid
an individual with the appropriate number of chromosomes for their species
triploid
A chromosomal muta on where an organism has three sets of chromosomes (3n) instead of
two (2n)
anueploidy