Open AccessMechanisms of non-Mendelian inheritance in genetic disease
Author(s) -
Veronica van Heyningen,
Patricia L Yeyati
Publication year - 2004
Publication title -
human molecular genetics online/human molecular genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.811
H-Index - 276
eISSN - 1460-2083
pISSN - 0964-6906
DOI - 10.1093/hmg/ddh254
Subject(s) - mendelian inheritance , biology , genetics , inheritance (genetic algorithm) , non mendelian inheritance , multifactorial inheritance , disease , omim : online mendelian inheritance in man , gene , identification (biology) , phenotype , single nucleotide polymorphism , genotype , medicine , botany , pathology , mitochondrial dna
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.