Human Genetics
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Transcript of Human Genetics
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Human Genetics
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Breaking Down the Definitions Honors1. Sex chromosome2. Autosome3. Sex-linked trait4. Linked gene5. Chromosome map6. Map unit7. Germ-cell mutation8. Somatic-cell mutation9. Lethal mutation10. Deletion
11. Inversion12. Translocation13. Nondisjunction14. Point mutation15. Substitution16. Frameshift mutation17. Insertion mutation18. Pedigree19. Carrier20. Genetic disorder
21. Polygenic22. Complex character23. Multiple allele24. Sex-influenced trait25. Huntington’s Disease26. Amniocentesis27. Chorionic villi sampling28. Genetic counseling29. Gene therapy
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Breaking Down the Definitions Reg. Bio1. Karyotype2. Sex chromosome3. Autosome4. Pedigree5. Sex linked gene6. Nondisjunction7. DNA fingerprinting8. Gene Therapy
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Sex Chromosomes and Autosomes•The sex chromosomes contain genes that determine the gender of the individual.•Autosomes are the remaining chromosomes that do not affect the gender of the individual.•Males= XY•Females = XX
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Gender Determination—What are the chances of having a girl or a boy??
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Gene Location• Genes located on the X-Chromosome are called X-Linked
Genes.• Genes located on the Y-Chromosome are called Y-Linked
Genes.• The X Chromosome is much bigger than the Y Chromosome
and therefore there are more genes on it.• A male with a recessive allele on the X chromosome will
exhibit the recessive trait since there is not a counter-part on the smaller Y Chromosome.
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Punnett Squares with Sex Chromosomes
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Linked Genes•Pairs of genes that tend to be inherited together are called LINKED GENES.•The genes are linked together because they are found on the same chromosome•During crossing-over the genes can be swapped.•Video Clip—Crossing Over
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Chromosome Mapping•The farther apart 2 genes are located on a chromosome, the more likely a cross over will occur.•Chromosome Map—a diagram that shows the linear placement of genes on a chromosome.•One MAP UNIT = 1% chance of crossing-over
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Mutations•A MUTATION is a change in the nucleotide base sequence of DNA (the letters)
Germ-Cell
• In the Gametes
• Do not affect the organism but can be passed on to offspring
Somatic-Cell
• In the body cells
• Can affect the organism, but are not passed on
Lethal
• Causes death; usually before birth
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Chromosome Mutations• CHROMOSOME
MUTATIONS are changes in the structure of a chromosome or the loss/gain of an entire chromosome
• Loss of a piece of a chromosomeDeletion
• A chromosomal segment breaks off, flips backwards, and reattachesInversion
• A piece of one chromosome breaks off and reattaches to another chromosome
Translocation
• A chromosome fails to separate during meiosis, therefore one gamete receives an extra copy and one gamete receives no copy
Nondisjunction
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Flapbook—4 types of Chromosome Mutations!
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Gene MutationsPoint Mutation• Substitution, addition, or removal of a single nucleotide (letter)• Change occurs within a single gene
Substitution• One nucleotide replaces another• If this occurs in a codon, the amino acid can be changed
Frameshift Mutation• Loss of a nucleotide resulting in the incorrect grouping of codons, making all the amino acids
change
Insertion Mutation• One or more nucleotides are added to a gene• Can also cause a Frameshift mutation
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Mutation Video Clip• Give an example of an addition• Give an example of a deletion
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Flapbook Gene Mutations!
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Inheritance of Traits•A PEDIGREE is a diagram that shows how a trait is inherited over several generations•Squares = males, Circles = females•Filled symbol = has the trait, empty symbol= no trait•Horizontal line =mating, vertical line = offspring
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Family Pedigree Practice!• Create a pedigree for eye color for the following family!• Children:• Suzy has brown eyes, Jose has brown eyes, Hiram has
blue eyes, Damien has brown eyes.•Mom has blue eyes, Dad has blue eyes• On mom’s side: Grandma has brown eyes, grandpa has
blue eyes• On dad’s side: grandma has blue eyes, grandpa has blue
eyes
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Weekly Homework!--Honors•Create a pedigree for your own family!• Choose 1 trait • attached ear lobes, color blindness, dimples, eye color, tongue
rolling, second toe longer than big toe, gluten allergy, near sightedness, right/left handed, curly/straight hair
• Go back at least to your grandparents, farther if you can.• Talk to people, look at pictures• If unknown, shade in gray• If trait is present-color red• If trait is absent, leave empty
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Genetics Classroom Survey• After completing the survey answer the following:1. Which 2-3 traits are the most common?2. Which 2-3 traits are the least common?3. Which gene of yours did you find to be common?4. Which gene of yours did you find to be uncommon?
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Pedigree Practice
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Genetic Disorders•GENETIC DISORDERS are diseases or disabling conditions that are passed down from parent to offspring•POLYGENIC are traits that are influenced by multiple genes rather than a single allele•COMPLEX CHARACTERS- human conditions that are influenced by a combination of genes and environmental factors.•Skin color, height, heart disease
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Multiple Alleles•Genes with 3 or more alleles. Example: Blood types, ABO•Multiple alleles often lead to codominance (both traits expressed) or incomplete dominance (an in-between trait is expressed, ie wavy hair).
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Blood Types •4 types•Type A, Type B, Type O, Type AB
•A and B are dominant •O is recessive•AO= A blood type•BO=B blood type•AB=genes are CODOMINANT, blood type is AB•Brain Pop –Blood Types
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Blood Typing
•Complete the squares below to determine the different possible genotype combinations for offspring:
A B
A
B
Father’s Genotype
Mot
her’s
Ge
noty
pe
Make Punnett Squares for these as well:1. Mom—OO Dad—AB2. Mom—AA Dad—BB3. Mom—AA Dad—AO4. Mom—BB Dad AO5. Mom—AB Dad OO6. Mom—AO Dad BO
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Codominance, ABO practice
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X-Linked Traits•X-Linked traits are traits found on the X-chromosome and often only males will exhibit the recessive trait (since they don’t have a counterpart on the Y to dominate it).•Colorblindness is an X-linked trait and therefore more common in males•X-Linked Practice!
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Single Allele Traits•More than 200 human traits are controlled by a single allele.•Huntington’s Disease is a single allele, dominant, disease.
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Genetic Screening and Genetic Disorders•Many people seek GENETIC SCREENING before having
children.• GENETIC SCREENING is an examination of a person’s genetic
makeup to see what traits may be passed on to an offspring.• GENETIC COUNSELING is when a person seeks professional,
medical guidance about the risks of passing on traits to children• AMNIOCENTESIS is a procedure to test the amniotic fluid
during pregnancy to analyze fetal DNA and check for genetic disease.
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Gene Therapy• In your own words, what is gene therapy?• Gene therapy cures blindness?
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Genetic Disorder Powerpoints and PresentationsChoose a disorder and complete the presentation. You may choose one from below or find your own.• Huntington’s Disease• Alexander Disease• Alzheimer’s• Autism
• Barth Syndrome• Cerebral Palsy• Cleft Palate• Cystic Fibrosis• Down Syndrome• Hemophilia• Marfan Syndrome• Long Q-T Syndrome
• Progeria• Sickle Cell Anemia• Spina Bifida• Williams Syndrome
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A Royal Case Study