Download Desordenes Geneticos - Hicksville Public Schools

LO: SWBAT explain the difference
between chromosome mutations and
gene mutations and give an example of
each.
Objetivo: Cual es la diferencia entre una
mutacion de cromosoma y una mutacion
del gen ?
Chromosome Mutation/ Mutacion de Cromosoma
• Causes a change
in chromosome
number.
• Cambia el
numero de las
cromosomas
Nondisjunction- occurs when homologous
chromosomes or sister chromatids fail to separate during meiosis.
•No disyunción - se produce cuando cromosomas homólogas o chromatidas
hermanas no separan durante la meiosis.
karyotipo
Trisomia Vs Monosomia:
Trisomia 21
3 Copies of a Chromosome
3 copias de un cromosoma
Down Syndrome/
sindrome se down
Monosomia X
1 copy of a homologous pair
1 copia de un par homologo
Turner Syndrome
Sindrome de Turner
The older the age of the
mother the greater the
likelihood of having a
child with Down
Syndrome.
Entre mas sea la edad de
la madre mayor será la
probabilidad de tener un
hijo con síndrome de Down.
Trisomy 21
Down Syndrome/ Sindrome
de Dawn
• Trisomy 21- extra
copy of chromosome
21
• Problems with brain
and eye
development
• Problems with
physical
development
• Chance of having a
• Copia de del
cromosoma 21
• Problemas con el
desarrollo del
cerebro y ojo
• Problemas con
desarrollo físico
Gene Mutations/ Mutacion de Genes
a change in the nucleotide sequence of DNA.
Cambio en la sequencia de nucleotidos del ADN
cystic fibrosis/ fibrosis quistica
•
•
•
•
mutation in gene
in chromosome 7
Buildup of thick
_______ in
mucus
respiratory and
digestive tract
Defect in gene that
causes abnormally
large amounts of
mucus to build up
__________recessive must
have both copies
of the gene
• Mutacion de gen en
la cromosoma 7.
• Se acumula el moco
en el sistema
respiratorio y
digestivo.
• Es recesivo- Ambas
copias del gen
deben ser recesivas
para que se
manifieste la
caracteristica
•
•
•
•
•
Tay Sachs Disease/ Enfermedad de Tay
Sachs
Mutation of gene on
• Mutacion de gen en
chromosome 15
la cromosoma 15.
Absence of __________
• Falta una enzima lo
enzyme
que provoca la
Causes a ________
to
fat
acumulacion de
accumulate in cellsgrasa en la celula
especially nerve cells
(Nervios)
Usually death by age 5 • Muerte
recessive must have
_________aproximadamente a
both copies of the gene los 5 anos.
• recesivo
sickle cell anemia/ Anemia
falciforme
•
•
La hemoglobina e los globulos rojos estan
mal formados y no pueden ‘cargar’
suficiente oxigeno.
Para que se manifieste ambos genes
deben ser recesivos.
PKU/ fenilcetonuria
•
•
•
•
•
•
Mutation on gene of chromosome 12
enzyme to break down the
Missing _________
amino acid phenylalanine
phenylalanine accumulates in blood and
______________
tissue
Neurological problems, mental retardation
Treated with a well maintained diet- cannot
consume products with phenylalanine in ithigh ________
protein foods
__________recessive must have both copies of the
gene
Huntington’s disease
•
•
•
•
Dominant if you have the gene, you
__________have the disease
Neurological disorders
Chromosome 4
after child
Symptoms show up ______
bearing years
They all affect the shape of proteins!! If we
change the shape of proteins (enzymes) they
will not function properly and this will affect
our phenotype.
Todas estas mutaciones afectan la forma de
las proteinas, haciendo que no funcionen
correctamente.