Bimm 110 Section 1 Problem Set & Slides

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BIMM 110 Section 1

DAYS UNTIL FINAL

April 8, 2009 George Chen [email protected] Office Hours: Tues 12:30-1:30 Sierra Summit or by appointment G. Chen

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Announcements ●

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April 14th Office Hour Change ●

2:30-3:30 PC East Food Court

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Contact me by email for appointment

These slides will be posted online to: www.pdfcoke.com/g_chen

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Section Format ●

Lecture ●

Course material

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Laboratory techniques

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Problem Set

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Questions?

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Mitosis and Meiosis

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Mendel's Laws ●

Law of Succession

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Law of Independent Assortment

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2 alleles per trait; 1 from each parent Inheritance of one trait will not affect the inheritance of other traits, unless they are linked

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Protocol: Karyotyping ●

Cells arrested during division using colchicine (or some other reagent/method)

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Chromosomes digested with trypsin

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Slides are prepared, flooded with Giemsa stain (Gbanding)

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Photograph taken

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Chromosomes cut out and arranged together by hand

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Karyotyping, 2 ●

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G-Banding ●

Binds to phosphate groups of DNA

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Dark bands are AT rich regions

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Light bands are CG rich regions

Also used to study pathogenic bacteria interactions with human cells

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Protocol: FISH ●

Probes created with fluorescent tags

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Probes applied to substrate-bound DNA

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Incubation ~12 hours

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Excess probes washed off

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Visualization

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Chromosomal abnormalities ●

Chronic myelogenous leukemia (CML)

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Caused by the translocation of chromosomes 9 and 22

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BCR-ABL fusion protein

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CML: Philadelphia Chromosome

FISH

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Chromosomal abnormalities ●

Lymphoma

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A “gain of function” mutation

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Overexpression of Myc

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Blood coagulation pathway ●

Intrinsic and extrinsic

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Fibrin clot

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Pedigrees

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Autosomally Dominant ●

Key features ●

One copy needed for condition

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Equal chance of getting from males and females – will see approximately half of the offspring with the condition

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Autosomally Recessive ●

Key Features ●

Two copies needed

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Increased in incest

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Large number of carriers

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X-Linked dominant ●

Key Features ●

Seen more in females than males

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For males, all daughters and no sons are affected if only father has trait

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For females, 50% chance

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X-Linked recessive ●

Key features ●

More males

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No male-male transmission

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Y-linked ●

Key Features ●

Rare

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Only in males

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Pedigree complications ●

Lethals

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Multifactoral inheritance

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Mitochondrial inheritance

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Any questions?

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Problem Set #1 ●

How is disease most broadly defined?

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Explain how a translocation mutation may cause the overexpression of certain proteins.

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Compared to the period 1900-1950, how have the primary causes of human death changed? Why?

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What are the two types of genetic disease? How are they related? 2009/04/08

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Problem Set #1 Cowden syndrome is an autosomally dominant genetic disease. Create a pedigree given the following information: 1) Sue and Tom have three kids, two of whom are affected. Since Sue was affected, each child had a 50 percent chance for developing Cowden syndrome, but only Joe and Jim (2 of the kids) actually inherited the gene change. 2) Sara (the third kid) did not inherit the gene change and has not developed CS. She cannot pass this gene on to her children, nor will they develop CS. 3) Joe has one daughter who had a 50 percent chance of inheriting the gene change and developing CS. Jen, his daughter, did not inherit the change and will not develop CS. 4) Kay and Jim have two children; Tim inherited the gene change. Lori did not inherit the change. 2009/04/08

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Problem Set #1 ●

What are some factors that may limit the expression of an autosomally dominant disease?

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A researcher following a genetic disease in several families and notes that the disease appears to be more prevalent in females than males. What kind of inheritance is likely to be occurring?

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What is the function of Von Willibrand Factor (VWF) in the blood coagulation pathway?

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Problem Set #1

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What is the inheritance of this disease?

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What is the most likely genotype of III-11?

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Problem Set #1

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What is the inheritance of this disease?

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What is the relationship between III-3&4?

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Problem Set #1

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What is the inheritance of this trait?

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Problem Set #1

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What is the inheritance of this trait? How is it inherited?

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