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14-3 Human Molecular Genetics

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Katelynn Dorn

on 12 March 2014

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Transcript of 14-3 Human Molecular Genetics

Human Genome Project
Effort to analyze human DNA sequence
Started in 1990, finished around 2002
6 billion base pairs to figure out
Headed by Dr. Francis Collins & Dr. Craig Venter
Worked on by researchers, universities, companies all over the world
A Breakthrough for Everyone
Human genome research is not secretive.

Human Genome Project website
Human DNA Analysis
Testing for Alleles
Parents may test for diseases they could pass on (CF, Tay-Sachs)
DNA probes- specific DNA base sequences that detect the complimentary base pairing sequence of a disease-causing allele
Some tests detect difference between normal and abnormal alleles.
Other tests search for changes in restriction enzyme cutting sites.
Gene Therapy
An absent, faulty gene is replaced by a normal one.

Body can then make correct protein or enzyme it needs to eliminate cause of disorder.
Ethical Issues in Human Genetics
Should biologists engineer people to change their height, hair color, gender, blood group?

What will happen to the human species if we design our bodies?

What will be the consequences of cloning human beings?
14-3 Human Molecular Genetics
Rapid Sequencing
Mile markers
Cut DNA into fragments to determine sequence of bases in each fragment
Computers found areas of overlap.
Fragments were ordered based on where overlap occurred.
Searching for Genes
Only a small part of human DNA molecule is made up of genes.
First look for
, where RNA polymerase binds.
Then look for
open reading frame
- sequence of DNA bases that makes an RNA sequence to turn into amino acids.
Gene has to be read all the way to stop codon.
How Reliable Do You Think DNA Fingerprinting Is?
DNA Fingerprinting
analyzes large amounts of repeat DNA that vary from person to person
restriction enzymes
cut the DNA and separate genes from repeats.
Fragments are sorted by size using gel electrophoresis.
Fragments of variable regions are detected with DNA probes.
A pattern of bands is produced.
DNA samples from blood, sperm, hair, skin
DNA Analysis- Testing & Fingerprinting
Human Genome Project
Gene Therapy for Curing Genetic Disorders
Full transcript