Difference between revisions of "ANAT2341 Lab 3 2013"

From Embryology
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Some are due to chromosomal abnormalities - polygenic disorders e.g. Williams-Beuren syndrome, Downs Syndrome
 
Some are due to chromosomal abnormalities - polygenic disorders e.g. Williams-Beuren syndrome, Downs Syndrome
  
#(List of well-known genetic diseases)  [http://www.genome.gov/10001204   examples of specific genetic disorders NHGRI]
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# (Some common genetic diseases)  [http://www.genome.gov/10001204 examples of specific genetic disorders NHGRI]
 +
# (Comprehensive database of human genetic disorders and associated genes)  [http://www.omim.org/  Online Mendelian Inheritance in Man OMIM]
  
 
==Diagnosis of human genetic diseases==
 
==Diagnosis of human genetic diseases==

Revision as of 17:28, 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. (Some common genetic diseases) examples of specific genetic disorders NHGRI
  2. (Comprehensive database of human genetic disorders and associated genes) Online Mendelian Inheritance in Man OMIM

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, December 6) Embryology ANAT2341 Lab 3 2013. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/ANAT2341_Lab_3_2013

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