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Human Molecular Genetics 2004 13(Review Issue 2):R225-R233; doi:10.1093/hmg/ddh254
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Human Molecular Genetics, Vol. 13, Review Issue 2 © Oxford University Press 2004; all rights reserved

Mechanisms of non-Mendelian inheritance in genetic disease

Veronica van Heyningen* and Patricia L. Yeyati

MRC Human Genetics Unit, Western General Hospital, Edinburgh EH4 2XU, UK

Received July 23, 2004; Accepted July 26, 2004

Single gene disorders with Mendelian inheritance patterns have contributed greatly to the identification of genes and pathways implicated in genetic disease. In these cases, molecular analysis predicts disease status relatively directly. However, there are many abnormalities which show familial recurrence and have a clear genetic component, but do not show regular Mendelian segregation patterns. Defining the causative gene for non-Mendelian diseases is more difficult, and even when the underlying gene is known, there is uncertainty for prenatal prediction. However, detailed examination of the different mechanisms that underlie non-Mendelian segregation provides insight into the types of interaction that regulate more complex disease genetics.

* To whom correspondence should be addressed. Tel: +44 1314678405; Fax: +44 1314678456; Email: v.vanheyningen{at}hgu.mrc.ac.uk


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