Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome

Genetic Epidemiology
Kimberly F KerstannStephanie Sherman

Abstract

Many of the birth defects associated with trisomy exhibit both variable expressivity and incomplete penetrance. This variability suggests that it is allelic variation and not simply the presence of an additional chromosome that leads to the development of certain trisomy-associated birth defects. With the proper tools, one may use trisomic populations to identify genes involved in the development of specific birth defects. A trisomic population may be advantageous over a normal population if the defect is over-represented in the trisomic population. Alternatively, one can view the trisomic populations as a "model system" to offer insight into aspects of both normal and abnormal embryonic development. Standard disomic linkage disequilibrium mapping approaches need to be adjusted to account for the presence of the additional genetic material in the trisomic individuals. We present an approach for linkage disequilibrium mapping of variable phenotypes in a trisomic population that adequately accounts for the additional alleles and the pattern of non-independent inheritance. We establish the laboratory methods and statistical tools necessary to conduct an association study in a trisomic population. As an example, we have applied the...Continue Reading

Associated Clinical Trials

Sep 23, 2008·William T. Mahle, MD

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Citations

Jan 21, 2011·European Journal of Human Genetics : EJHG·Irene C JoziasseJeroen Bakkers
Oct 2, 2008·Bioinformatics·Yan LinEleanor Feingold
Apr 6, 2006·PLoS Genetics·Randall J Roper, Roger H Reeves
Feb 17, 2015·Cardiology in the Young·Jeannie VisootsakJessica Hunter
Sep 21, 2011·American Journal of Medical Genetics. Part a·Jeannie VisootsakStephanie L Sherman
Nov 29, 2005·Gene·Oleksii NikolaienkoKatheleen Gardiner
Mar 18, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sallie B FreemanStephanie L Sherman
Oct 13, 2006·American Journal of Medical Genetics. Part a·Cheryl L MaslenStephanie L Sherman
Jul 20, 2019·American Journal of Medical Genetics. Part a·Jorge Román Corona-RiveraChristian Peña-Padilla

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Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.