Chromosomal abnormalities can cause serious genetic disorders
Changes in chromosome number: Normal, trisomy, monosomy allow fetus to be born. Most
other changes result in abortion of fetus
Changes in chromosome structure:
● Reciprocal translocation is basis for chronic myelogenous leukemia (CML)
○ Reciprocal translocation : one part of chromosome gives and takes chunk and
attaches to non homologous chromosome which can lead to issues
○ Breakpoints occur in introns (noncoding) so when reciprocal translocation occurs,
it is still read by the reading frame and can lead to cancer
● Reciprocal translocation
○ No loss of genetic material bc it breaks in
introns
○ Doesn’t result in mutant phenotype because
genetic material is still present but just on a
different chromosome
○ Can result in mutant phenotype if breakpoint
is within or near gene (exons)
Translocation Effects:
- Change the number of chromosomes found in
species through evolution
- Can disrupt existing gene function
Changes in chromosome number: Normal, trisomy, monosomy allow fetus to be born. Most
other changes result in abortion of fetus
Changes in chromosome structure:
● Reciprocal translocation is basis for chronic myelogenous leukemia (CML)
○ Reciprocal translocation : one part of chromosome gives and takes chunk and
attaches to non homologous chromosome which can lead to issues
○ Breakpoints occur in introns (noncoding) so when reciprocal translocation occurs,
it is still read by the reading frame and can lead to cancer
● Reciprocal translocation
○ No loss of genetic material bc it breaks in
introns
○ Doesn’t result in mutant phenotype because
genetic material is still present but just on a
different chromosome
○ Can result in mutant phenotype if breakpoint
is within or near gene (exons)
Translocation Effects:
- Change the number of chromosomes found in
species through evolution
- Can disrupt existing gene function
