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 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. Causes a change in chromosome number. Cambia el numero de las cromosomas

karyotipo

Trisomia Vs Monosomia: 3 Copies of a Chromosome 3 copias de un cromosoma 1 copy of a homologous pair 1 copia de un par homologo Trisomia 21 Monosomia X Down Syndrome/ sindrome se down 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 baby with down syndrome increases after the age of 35 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 respiratory and digestive tract Defect in gene that causes abnormally large amounts of mucus to build up __________- must have both copies of the gene mucus recessive 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 chromosome 15 Absence of __________ Causes a ________ to accumulate in cells- especially nerve cells Usually death by age 5 _________- must have both copies of the gene enzyme fat recessive Mutacion de gen en la cromosoma 15. Falta una enzima lo que provoca la acumulacion de grasa en la celula (Nervios) Muerte aproximadamente a 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 Missing _________ to break down the amino acid phenylalanine ______________ accumulates in blood and tissue Neurological problems, mental retardation Treated with a well maintained diet- cannot consume products with phenylalanine in it- high ________ foods __________- must have both copies of the gene enzyme phenylalanine protein recessive

Huntington’s disease __________- if you have the gene, you have the disease Neurological disorders Chromosome 4 Symptoms show up ______ child bearing years Dominant after

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.