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Glossary

Autosomal recessive inheritance

A pattern of inheritance in which a gene change has an effect only if two mutated copies are inherited, for example the gene that causes cystic fibrosis. Also known simply as recessive inheritance.



Articles using this Glossary Item


With an eye to the future - preliminary results of clinical trial in human embryonic stem cell-based therapy of macular degeneration

31 January 2012 - by Dr Dusko Ilic and Dr Emma Stephenson

Last week, Advanced Cell Technology (ACT) of Massachusetts, USA, made two important announcements regarding human embryonic stem (hES) cell-based therapies for the potential treatment of Stargardt's dystrophy and age-related macular degeneration, two devastating degenerative disease leading to blindness....[Read More]

DNA affecting the severity of cystic fibrosis discovered

31 May 2011 - by Kimberley Bryon

Two genetic regions that might explain some differences in disease severity in cystic fibrosis (CF) patients have been identified by US and Canadian researchers. The two regions contain genes that can modify lung function...[Read More]

Cord blood used to treat infant with SCID

15 November 2010 - by Chris Chatterton

Doctors from Great Ormond Street Hospital (GOSH) have used stem cells from donated cord blood to treat a child with a rare genetic disorder....[Read More]

New PGD technology guidelines published for the genetic testing of IVF embryos

01 November 2010 - by MacKenna Roberts

The European Society of Human Reproduction and Embryology (ESHRE) has published an updated set of best practice guidelines for fertility clinics on the use of preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) techniques...[Read More]

Newborn babies to be screened for rare metabolic disorder

19 February 2007 - by Antony Blackburn-Starza

All newborn babies in England will be offered screening for the rare metabolic disorder Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD). MCADD is an autosomal recessive genetic disorder that is caused by a lack of an enzyme that converts fat into energy, affecting blood sugar levels. The...[Read More]


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