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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

second short answer/ multiple choice test of last week's lecture material (Week 3 of human development)
Tutorial on human genetic disorders, diagnosis, mapping and modern techniques such as genome sequencing.
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

(Some common genetic diseases) examples of specific genetic disorders NHGRI
(Comprehensive database of human genetic disorders and associated genes) Online Mendelian Inheritance in Man OMIM

Diagnosis of human genetic diseases

Clinical examination and assessment
Personal history
Family history
Genetic tests

Genetic tests may include clinical cytogenetics which involves an examination of the chromosomes to look for evidence of aneuploidy, which means a loss or gain of the usual amount of genetic material, such as Trisomy 21 - Downs Syndrome. This will lead to changes in the number of copies of genes in the genome - a copy number variation or CNV.

This method will also pick up chromosomal rearrangements such as inversions or translocations. The breakpoints of these chromosomal rearrangements can lead to abnormal expression or complete loss of gene function as well as in some cases, creation of an abnormal chimeric fusion gene such as the Philadelphia Chromosome which causes a fusion of the genes BCR and ABL. The resulting protein leads to the development of chronic myelogenous leukaemia.

Standard methods can only identify large scale changes and rearrangements. However, since the development of Fluoresecence In-Situ Hybridisation (FISH) it is now possible to identify small scale changes such as microdeletions (e.g. Williams-Beuren Syndrome).

Classical mapping strategies of human genetic disease

Modern methods in human genetics

Glossary Links

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Cite this page: Hill, M.A. (2024, April 16) Embryology ANAT2341 Lab 3 2013. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/ANAT2341_Lab_3_2013

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