File:Autosomal recessive inheritance.jpg

Autosomal Recessive Inheritance

In this example, two unaffected parents each carry one copy of a gene mutation for an autosomal recessive disorder. They have one affected child and three unaffected children, two of which carry one copy of the gene mutation.

Examples of Autosomal Recessive Disease

• Cystic fibrosis (CF) (More? respiratory}

• Sickle cell anaemia (More? blood)

• Tay-Sachs disease (More? neural}

Preconception carrier tests are available for some autosomal recessive (AR) diseases. These tests were initially developed for autosomal recessive diseases that were frequent in specific ethnic groups:

• Tay–Sachs disease - Ashkenazi Jews
• hemoglobinopathies - Mediterranean and African populations
• cystic fibrosis - European-derived populations

Inheritance Pattern images: Genetic Abnormalities | autosomal dominant | autosomal recessive | X-linked dominant (affected father) | X-Linked dominant (affected mother) | X-Linked recessive (affected father) | X-Linked recessive (carrier mother) | mitochondrial inheritance | Codominant inheritance | Genogram symbols | Genetics

Links: Genetic Abnormalities | spermatozoa | oocyte | Search Pubmed - autosomal inheritance

Reference

Image Source: Genetics Home Reference. http://ghr.nlm.nih.gov/handbook/illustrations/autorecessive

Copyright

Government information at NLM Web sites is in the public domain. Public domain information may be freely distributed and copied, but it is requested that in any subsequent use the National Library of Medicine (NLM) be given appropriate acknowledgement. http://www.nlm.nih.gov/copyright.html

Cite this page: Hill, M.A. (2024, April 26) Embryology Autosomal recessive inheritance.jpg. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/File:Autosomal_recessive_inheritance.jpg

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G