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Basic Mechanisms of Monogenic Inheritance
Author(s) -
Ziegler Andreas
Publication year - 1999
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1157.1999.tb00891.x
Subject(s) - inheritance (genetic algorithm) , linkage disequilibrium , disease , linkage (software) , genetics , multifactorial inheritance , genetic linkage , biology , gene , medicine , genotype , haplotype , single nucleotide polymorphism , pathology
Summary: To revive the appreciation of the importance of genetic studies for the understanding of neurologic diseases inherited in a monogenic fashion. After a description of the basic patterns of monogenic inheritance, the importance of linkage studies for the mapping of a disease gene is mentioned. Furthermore, the term linkage disequilibrium is introduced. Finally, several procedures used in current linkage analyses are briefly mentioned, with the aim of identifying the disease gene. The importance of genetic studies of disease families with many members, preferably from isolated surroundings to favor homogeneity, is stressed. However, such analyses can be performed only as a consequence of a close cooperation between clinicians and research scientists.