Do Now #22 p.51 Objective: Explore karyotyping and genetic disease Nevada has a very high biodiversity compared to other states. Which reason best explains why this is the case? It is a large state in terms of area compared to other states. It receives more precipitation on average compared to other states. It has numerous ecosystems due to its basin and range topography. It has few people to disturb plant and animal habitats. Standard: Organisms and their Environment – A variety of ecosystems and communities exist on Earth. Ecosystems are dynamic interactions of organisms and their environment. Ecosystems have distinct characteristics and components that allow certain organisms to thrive. Change in one of more components can affect the entire ecosystem. L.12.C.4- Students know the unique geologic, hydrologic, climatic, and biological characteristics of Nevada’s bioregions. E/S DOK Level 1 Answer C   According to the World Wildlife Foundation, “The Great Basin is the largest arid area in the United States. It is a true basin and range, with completely self-contained drainage. The region supports numerous threatened and endangered species–Nevada is third in the nation in listed species.” Throughout Nevada, the biologic communities on the mountain ranges differ with elevation, and the individual mountain ranges act as islands isolated by seas of desert vegetation. Because the mountains exhibit such drastic elevation changes from the valleys to the peaks, Nevada supports an impressive diversity of species, from those adapted to the desert to those adapted to forest and alpine environments.

Karyotyping and genetic disease Human Genetics Karyotyping and genetic disease

What is the difference between an Autosome and a Sex-chromosome? Autosomes are the first 22 homologous pairs of human chromosomes that do not influence the sex of an individual. Sex Chromosomes are the 23rd pair of chromosomes that determine the sex of an individual.

Karyotype

Chromosome Number Homologous Chromosomes are the sets of each pair Different # for different species Full set = 2N=Diploid N= # pairs 1 pair from mother 1 pair from father Humans= 23 pairs or 46 total

Autosomes & Sex Chromosomes Autosomes = # 1-22 for all traits except sex Sex chromosomes= Pair # 23 XX(female) or XY(male)

Karyotyping Video

Introduction to Genetic Disease

Sickle Cell disease Sickle cell disease is a disorder that affects the red blood cells You inherit the gene from both parents Sickle cell disease prevents oxygen from reaching the spleen, liver, kidneys, lungs, heart, or other organs, causing a lot of damage.

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Cystic Fibrosis Cystic fibrosis is a genetic disorder that affects the respiratory and digestive systems You have to inherit the CF gene from both parents

Down Syndrome Down Syndrome: extra copy of chromosome 21

Down Syndrome= 3 of #21

Klinefelter’s Syndrome                                                     What is Turner syndrome? Klinefelter’s Syndrome Klinefelter’s: Klinefelter syndrome is a disorder that affects only males. Males who have Klinefelter syndrome have an extra X chromosome (XXY).

Klinefelter’s = XXY

Turner Syndrome Turner Syndrome: Missing or incomplete X chromosome. People who have Turner syndrome develop as females. The genes affected are involved in growth and sexual development

Video

Huntington's Disease Huntington's Disease (HD) is a brain disorder that affects a person's ability to think, talk, and move. Huntington's disease is inherited Too many “CAG” triplets

Williams Syndrome Affects a child's growth, physical appearance, and cognitive development. People who have Williams syndrome are missing genetic material from chromosome 7

Phenylketonuria (PKU) Phenylketonuria is a rare metabolic disorder that affects the way the body breaks down protein You have to inherit the PKU gene from both parents

List of other Genetic Disorders Trisomy 13 Trisomy 18 Deletion 5 Jacobs syndrome Triple X Cri-du-chat

Karyotype Activity Objective: To learn how to construct a Karyotype and discover different genetic diseases from a karyotype. Procedure: Work in groups of 2-3. Construct a karyotype from one smear Use “Information on Chromosome Disorders” to identify the type of mutation. Answer questions on the handout.