BIMM 110 Section 1 61

DAYS
UNTIL FINAL

April 8, 2009

George Chen gtchen@ucsd.edu

Office Hours: Tues 12:30-1:30 Sierra Summit or

2009/04/08
by appointment
G. Chen 1

Announcements
●
April 14th Office Hour Change
●
2:30-3:30 PC East Food Court
●
Contact me by email for appointment

● These slides will be posted online to:

www.scribd.com/g_chen

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Section Format
● Lecture
● Course material
● Laboratory techniques
● Problem Set

● Questions?

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 Mitosis and Meiosis

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Mendel's Laws
● Law of Succession
● 2 alleles per trait; 1 from each parent
● Law of Independent Assortment
● 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)
● Chromosomes digested with
trypsin
● Slides are prepared, flooded
with Giemsa stain (G-
banding)
● Photograph taken
●
Chromosomes cut out and
arranged together by hand

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 Karyotyping, 2
● G-Banding
● Binds to phosphate groups of
DNA
● Dark bands are AT rich regions
● 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
● Probes applied to
substrate-bound DNA
● Incubation ~12 hours
● Excess probes washed
off
●
Visualization

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Chromosomal abnormalities
● Chronic myelogenous
leukemia (CML)
● Caused by the
translocation of
chromosomes 9 and 22
●
BCR-ABL fusion protein

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 CML: Philadelphia Chromosome

FISH

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Chromosomal abnormalities
● Lymphoma
● A “gain of function”
mutation
● 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
● 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
● Increased in incest
● Large number of
carriers

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X-Linked dominant
● Key Features
● Seen more in females
than males
● For males, all daughters
and no sons are
affected if only father
has trait
● For females, 50%
chance

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X-Linked recessive
● Key features
● More males
● No male-male
transmission

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 Y-linked
● Key Features
● Rare
● Only in males

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Pedigree complications
● Lethals
● Multifactoral inheritance
●
Mitochondrial inheritance

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Any questions?

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 Problem Set #1
● How is disease most broadly defined?

● Explain how a translocation mutation may cause

the overexpression of certain proteins.

● Compared to the period 1900-1950, how have the

primary causes of human death changed? Why?

● What are the two types of genetic disease? How

are they related?
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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.
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 Problem Set #1
● What are some factors that may limit the
expression of an autosomally dominant
disease?
● 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?
● What is the function of Von Willibrand Factor
(VWF) in the blood coagulation pathway?
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Problem Set #1

● What is the inheritance of this disease?

● What is the most likely genotype of III-11?

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Problem Set #1

● What is the inheritance of this disease?

● What is the relationship between III-3&4?

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 Problem Set #1

● What is the inheritance of this trait?

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Problem Set #1

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

inherited?

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