Difference between revisions of "ANAT2341 Lab 3 2013"

From Embryology
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==Human developmental diseases==
 
==Human developmental diseases==
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There are many common and rare human genetic diseases.
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Some are due to mutations of a single gene - monogenic disorders e.g. Cystic Fibrosis, Duchenne Muscular Dystrophy
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Some are due to chromosomal abnormalities - polygenic disorders e.g. Williams-Beuren syndrome, Downs Syndrome
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#(List of well-known genetic diseases)  [http://www.genome.gov/10001204  examples of specific genetic disorders NHGRI]
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==Diagnosis of human genetic diseases==
 
==Diagnosis of human genetic diseases==
 
==Classical mapping strategies of human genetic disease==
 
==Classical mapping strategies of human genetic disease==

Revision as of 16:03, 23 July 2013

Human genetic diseases

This practical contains the first of a series of tutorials designed to support the group projects. We will discuss various techniques used to diagnose and identify the genetic abnormalities found in many human congential illnesses.

Objectives of this laboratory

  1. second short answer/ multiple choice test of last week's lecture material (Week 3 of human development)
  2. Tutorial on human genetic disorders, diagnosis, mapping and modern techniques such as genome sequencing.
  3. Provide time for groupwork and allow groups to ask questions of lecturing staff.

Human developmental diseases

There are many common and rare human genetic diseases. Some are due to mutations of a single gene - monogenic disorders e.g. Cystic Fibrosis, Duchenne Muscular Dystrophy Some are due to chromosomal abnormalities - polygenic disorders e.g. Williams-Beuren syndrome, Downs Syndrome

  1. (List of well-known genetic diseases) examples of specific genetic disorders NHGRI

Diagnosis of human genetic diseases

Classical mapping strategies of human genetic disease

Modern methods in human genetics

Glossary Links

Glossary: A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z | Numbers | Symbols | Term Link

Cite this page: Hill, M.A. (2019, November 20) Embryology ANAT2341 Lab 3 2013. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/ANAT2341_Lab_3_2013

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© Dr Mark Hill 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G