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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

  • 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. (2019, April 22) 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 2019, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G

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