B. Genetic diseases

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14 Δεκ 2012 (πριν από 4 χρόνια και 7 μήνες)

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Chapter 3

A.

Gene function

Genes and protein synthesis and mutation

B.

Genetic diseases

Identification of genes

Pedigrees/DNA markers

Diseases (CF, PKU, Albinism,


Huntington Disease, DMD)

C.

Use/Misuse of genetic information

Genetic tests

Prenatal testing

PCR (polymnerase chain reaction)

Eugenics (positive/negative)

Chapter 4

A.
Genetic engineering

Restriction enzymes/plasmids

Genetically engineered insulin

Gene therapy

B.
Use of Genetic information

C.
Human Genome

Genomics/Bioinformatics


Chapter 4

A.
Genetic engineering

Restriction enzymes



Used to cut DNA at special sequences


e.g
EcoR1
cuts at

---
GAATTC
---





---
CTTAAG
---


palindrome

-
race car
-


Chapter 4

A.
Genetic engineering

Restriction enzymes



Used to cut DNA at special sequences


e.g
EcoR1
cuts at

---
GAATTC
---





---
CTTAAG
---


palindrome

-
race car
-


Chapter 4

A.
Genetic engineering

Restriction enzymes



Used to cut DNA at special sequences


e.g
EcoR1
cuts at

---
GAATTC
---





---
CTTAAG
---


palindrome

-
race car
-


Chapter 4

A.
Genetic engineering

Restriction enzymes



Used to cut DNA at special sequences


e.g
EcoR1
cuts at

---
GAATTC
---





---
CTTAAG
---


palindrome

-
race car
-


fig. 4
-
1

Plasmid

circular piece of non
-
chromosomal DNA

fig. 4
-
2

fig. 4
-
3

Have bacteria produce a product that the body can’t make.

Gene Therapy

Put good gene into someone who doesn’t have it

SCIDS

bubble babies

fig. 4
-
4

Gene Therapy:


Is it possible?

Is it right (ethical)?

Who dun it?

fig. 4
-
5

fig. 4
-
6

Chapter 4

A.
Genetic engineering

Restriction enzymes/plasmids

Genetically engineered insulin

Gene therapy

B.
Use of Genetic information

C.
Human Genome

Genomics/Bioinformatics


Sequencing DNA


if interested…see fig 4.7

fig. 4
-
8

Genome

complete genetic material of an organism

Human Genome project:

Proposed in 1986

Funded in 1989


Preliminary report in 2001 (94%)

Completed in 2003

Genome

results

1.
95% of human DNA is non
-
coding (not genes)

2.
Fewer genes found than expected (35,000)

3.
Many genes have unknown

4.
Only 1% of our genes are unique

(similar to 46% of genes in yeast)

5.
200 genes like bacteria

6.
mutation rates differ in different parts of genome

7.
Many sites (15) for variability




(each individual is genetically unique)

2
n

2
3
= 8

2
23
= 8,388,608

2
3
=

2
23
=

Genomics

study of the genome

e.g., identify individual genes

information generated is called
bioinformatics

uses molecular biology and computer science

95% of human DNA is non
-
coding

introns (non
-
coding) and exons (coding)


see figs 4.9 and 4.10

Genomics

comparative and functional

similarities and relationships

simple vs. complex

gene families

gene functions

……

Proteomics

study the protein content of
an organism

Normal function

Disease processes

Repair/drug interaction…..

Chapter 1

A.

Properties of living things

list them and relate them to further materials

B.

Scientific Method

subject matter and limitations

inductive



vs.


deductive reasoning

(specific to general)

(general to specific; if…then)


Hypothesis:

must be testable (falsifiable)


Experiments/observations

test hypothesis

must be reproducible

must have appropriate controls

B.

Scientific Method (cont)



Ethics:




deontological:

written code, individual rights






emphasis on actions






(right vs wrong)




utilitarian:


greatest good for most






emphasis on

consequences

Genes, Chromosomes and DNA

A.
Mendel and Peas



simple inheritance patterns



phenotype/genotype, dominant recessive



heterozygous/homozygous, Mendels “laws”

B.

Chromosomal Basis of Inheritance



Chromosomes



Cell division: mitosis and meiosis



Gene linkage, crossing over, nondisjunction

C.
Molecular basis of Inheritance



DNA structure and replication

Chapter 3

A.

Gene function

Genes and protein synthesis and mutation

(diagram)

B.

Genetic diseases

Identification of genes

Pedigrees/DNA markers

Diseases (PKU, Albinism, CF,


Huntington Disease, DMD)

C.

Use/Misuse of genetic information

Genetic tests

Prenatal testing

PCR (polymnerase chain reaction)

Eugenics (positive/negative)

How proteins are made (protein synthesis):









tRNA



RNA Polymerase


ribosomes (protein, rRNA)


DNA



mRNA



protein

4 "letters”



4 "letters”



20 "letters"




transcription



translation




(in nucleus)



(in cytoplasm)

Chapter 4

A.
Genetic engineering

Restriction enzymes/plasmids

Genetically engineered insulin

Gene therapy

B.
Use of Genetic information

C.
Human Genome

Genomics/Bioinformatics